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1. Make sure diet includes the recommended daily intake of calcium if needed supplement with vitamins Make sure diet includes the recommended daily intake of Vitamin D cholecalciferole and get enough healthy sun exposure if needed supplement with a vitamin Vitamin D levels can easily be checked with routine blood work If a person with CM experiences a fracture their doctor will most likely monitor bone density through a scan called a DEXA scan dual energy X ray absorptiometry Treatment of Very Brittle Bones In some cases medications may be used to help people with severely brittle bones These types of medications are called bisphosphonates and should only be administered by a doctor with experience using them in muscle disease Bisphosphonates should be considered when a person with CM has Two or more fractures e Bone pain e Severe osteoporosis as seen on regular X rays Failure of pins and screws from bone surgery due to weak bones e Other health conditions that worsen bone health e g celiac disease thyroid disorders and delayed puberty Maintaining and Increasing Mobility While Preventing Skeletal Problems Being proactive about your care is the best way to help prevent minimize or at least delay skeletal problems Exercise Staying active can help maintain and improve your muscle strength and function A physical or occupational therapist may recommend exercises stretches
2. for me to move around much while wearing it I try to exercise every day no matter how much I don t want to do it I have seen proof in my own body that exercise really helps Now I m not saying I m a muscle woman but I can promise you I am a lot better off now than I would have been if I didn t exercise I perform exercises to strengthen my core which makes the muscles around my spine stronger I think this helps the most in slowing or stabilizing the curve of my spine Although I had to make some changes in my life and the way I think I was able to make it through this challenge relatively intact This is a part of my life now and although it is hard I ve come to accept that Bracing Some doctors recommend bracing as a part of treatment while others do not If your doctor recommends a brace it should be customized to allow for maximum lung expansion while wearing The specialist may place a cut out where the diaphragm expands the torso outward Pulmonary function tests could be performed in the brace and out of the brace to determine if the brace is limiting your breathing ability A rigid brace will act as a total support that holds the torso up with virtually no muscle activation and can lead to worsening muscle weakness atrophy If you are concerned about a rigid brace leading to muscle atrophy it may be best to wear the rigid brace only during sedentary tasks like reading or watching television Some rigi
3. B Difficulty cleaning the teeth C Inefficient or unsafe chewing ability 4 When the upper and lower jaws are misaligned you might not achieve lip closure which leads to A More drool falling out B Difficulty articulating words so that others can understand you C Self esteem problems My child began seeing the craniofacial team at age four She had a large open bite and her lower jaw jutted out too far She also had a very narrow hard palate and immobile soft palate The extended treatment plan included An expander was placed to widen her hard palate She was fitted with a well designed palatal lift to help with her immobile soft palate and improve her speech intelligibility prosthodontics specialty A bite block retainer was worn to help correct the open bite later switched to molar cement and finally to simple rubber bands to leverage her jaw and achieve proper alignment Head gear was worn at night during childhood to pull the upper jaw in line with her lower jaw very slowly over time Regular braces on her teeth as a teenager to guide them into position We can see that without the orthodontic treatment her craniofacial proportions would be so far off by now that eating having a conversation or feeling good about herself would be severely corrupted For us it has been the right decision to begin orthodontic treatment early and stick with it during her growth and development To maintain the corr
4. Mechanical cough assistance using a mechanical insufflation exsufflation device mimics a natural cough The machine gradually delivers a large volume of air through a tube attached to a mask that covers the nose and mouth or a tube can be attached to a person s trach This incoming air is just like when you breathe in positive pressure Once the lungs have been expanded similar to a normal deep breath before a cough the device quickly reverses the flow of air to pull secretions out of the lungs negative pressure Mechanical cough assistance helps to make your cough stronger and more effective This helps keep your airways clear to reduce the chance of recurring respiratory infections RESPIRATORY MANAGEMENT 27 Cough assistance techniques can also be used as therapy for your breathing muscles to help keep them stretched and flexible It is more effective in children over the age of 2 years but has been used in infants with more severe forms of CM to good effect Assistance with Clearing Mucus There are many ways to help keep the lungs clear If you need help learning the techniques or using the tools contact your respiratory therapist for instructions to ensure you and your family members are confident when it has to be done at home e Breath Air Stacking A manual technique that uses a bag or breath holding and stacking to help push more air into lungs to prevent collapse of lungs atelectasis e Frog Breathing Calle
5. Volume incentive spirometer Other Breathing Exercise Tips 2 Deep breathing exerciser spirometer 3 Breathing exerciser Change body position freguently at least every two hours 4 Volumetric exerciser 5 Breath builder Encouraging them to sit up if safe to do so adaptive chair as needed Deep Breathing Technigue Crying and laughing can be good they help to exercise 1 Inhale deeply as your chest expands and your ribs lift the lungs Leave them to cry a little longer if they are upward safe comfortable 2 Hold the breath for five seconds e Steam in the bath may also help but keep them in a 3 Exhale slowly warm environment when out of the bath 4 Push on abdominals to get the last of the air out of your e Encouraging singing such as to nursery rhymes and lungs clapping Even if this is difficult it 5 Repeat the series for 5 minutes encourages movement and breathing each day if you feel lightheaded Any blowing toys instruments stop Movement is important to help the Breath Air Stacking Glossopharyngeal body and lungs develop and stay Breathing GPB Both inspiratory and indirectly healthier Encourage movement as much as tolerated never to the point of expiratory muscle function can be exhaustion though If you or your child assisted by air stacking technically is unwell resting takes precedence over WY known as glossopharyngeal breathing movement until you are on the
6. chopping food into very small pieces and cooking food to its most tender state Thin liquids can be harder to control in the mouth and during swallowing so your specialist may recommend a special cup or other means of making liquids easier to swallow Avoid foods likely to be choked on that are hard sticky rubbery or chunky i e corn nuts mixed textures Avoid mixing textures and consistencies e g milk and crunchy cereal is more likely to cause aspiration serve to supplement calories and fluids taken mostly by mouth Please ask your FEEDING NUTRITION amp ORAL CARE 45 Allow plenty of time for meals it will take someone with CM much longer to eat e Taking more than 30 40 minutes for a meal may indicate more help is needed feeding specialist or speech therapist e If eating meals is time consuming allow more whether it is safe to eat drink some opportunities to eat over the day for example six smaller meals a day may be tolerated better than three big meals and can sometimes be a way to help increase calorie intake Make sure food is well chewed before swallowing It might be helpful to alternate drinking in between bites of food Consider using other methods of eating i e temporary feeding tube if your child is weaker due to chronic fatigue or illness Select bottles with nipples teats that a baby can latch onto easily despite weak mouth muscles and with a flow of milk appropriate for your bab
7. each cell of the body However only one X needs to be active in each cell The pattern of which X is active and which is inactive Appendix Items e Research in Congenital Myopathy e Congenital Myopathy by Gene Related Subtype Transition to Adulthood After being taken care of by a team of pediatric specialists who have become familiar with your care switching to a group of adult specialists can cause worry and doubt This is very understandable but with some preparation the transition can be smooth Adult neuromuscular multidisciplinary teams function in a very similar manner as the pediatric teams Most multidisciplinary teams consists of a cardiologist neurologist pulmonologist wheelchair specialist and rehabiltation specialists that either work together in the same clinic or in collaboration although at different clinic times These specialists should also be experienced in neuromuscular disorders that are traditionally thought to be childhood disorders Before becoming an adult it is a good idea to gradually take on more responsibility for your healthcare such as refilling your own medications or scheduling your own appointments Caregivers have been handling all of the responsibility for many years so it is a big change for them too During medical appointments caregivers could begin looking to the teenage child to answer the nurse s or doctor s guestions during the initial stages of transitioning toward adult
8. mouth lack of velopharyngeal closure causing air to escape out the nose slower or weakened tongue and lip movements and difficulty controlling breath for speech are all contributors to the problem An evaluation of speech and language ability should be done as early as possible between one and three years of age A speech and language pathologist can not only help guide the development of speech abilities but also recommend alternative ways to communicate Having a way to communicate with caregivers and socialize is empowering to someone with CM that lacks the ability to speak clearly Communication also promotes development in many ways Some infants toddlers and children with CM are taught basic sign language given they have use of their hands to make the signs for common words As long as the family knows the same basic signs they can communicate together the use of bubbles for breathing exercises Oral motor therapy to strengthen and coordinate muscles breath training orthodontics and special devices like a palatal lift appliance can help improve speech To achieve the best outcome the techniques exercises and equipment recommended to you should be used daily It may take months or years but many people with CM will have noticeable improvements in their speech using these methods and some may have remarkable improvements Assistive communication devices also called augmentative or alternative communication devi
9. new vis com New Visions provides continuing education and therapy services to professionals and parents working with infants and children with feeding swallowing oral motor and pre speech problems amazon com gp product 1470190222 Complete Tubefeeding is the definitive guide for anyone living with or preparing to receive a feeding tube and those who care for them It also includes a detailed discussion of blended diets RESOURCES FOR FAMILIES 92 Glossary the on a Tm FE MM AR h All y Mw ALL te bi y i i FN PY ag y NL WU un hyf he MAN t P t s se nn iddo a ad SN FAAN 2 dab MEN FT ri Me ML R Fe 2 c Un ss Y Y ls oo a i ye 4 A Aa TN s aa iy i Y IE bd 7 i YW i At TA t T Y T on A l ay EE LEMONS OCH PBA HORUS Rees I p r De SEN oy E WM pw FA i id E y ay Ay a he y wi m re MAI i AY 4 da i oe Mi ane i SSLN 7 MY E a O an wdd yM ue VIGE i ie pill i te Hee eth vil EM LE i he i i an Weak en teh FRR ANER Y Woes RAN NS NON d TM a n Ti i 3 e n A WY cp FR a Wat A R K y i AS iN Fi VAr a a i Wa h wi i i hr k 7 FN i pee a cin tw MM SG Sw nee SSR AN i 3 HAN a iy Gare he Cl oe oN NG Bit al ow oh nn nu FL t Fi iA NWO i Wa A MW LL LU th a athe Wii i sag A ih J i ay a at th ai w e n is a MM WY TAU WM syn a a i AA fru Mk We rn eA hones nu ww INN vil i UN ye ww 4 EN A p
10. since there is likely to be some initial weight loss My daughter slimmed down but closely monitored her weight to height ratio and dismissed irrelevant standardized growth charts As long as she was tracking along her personal growth curve there was no call for concern patiently applied a combination of techniques with an optimistic attitude to achieve our goal Although if had to choose one thing that was paramount it was the FEEDING NUTRITION amp ORAL CARE 44 How One Mom Transitioned Her Child from G Tube to Oral Feeds puppets used them every day to keep eating fun even after the transition was complete She still recounts those puppets as one of her fondest childhood memories The next most important thing was allowing her choices such as what food to eat how to eat it which dish to use and what food the puppet should eat next Use of her oral muscles every day to eat promoted strengthening in those muscles and her oral coordination only got better with time had to remind myself that it was all going to be worth the effort in order to keep my confidence and perseverance strong It was a commitment that s for certain and well worth it for us By the time she was 2 years old she was consuming all her nutrition by mouth and showing good growth We had the g tube removed not long after confirming it a success It s been many years and she continues to thrive She is extremely happy that we provided
11. 2 Mental wellness is an important issue especially for those that have congenital myopathy As someone living with CM please share what mental wellness means with regard to various life stages Growing up with CM I think the hardest part for me was developing positive self esteem For me CM was not only a physical disability but also a facial difference and the two are very distinct experiences Society is often more forgiving of a physical disability and not so forgiving of a facial An Interview with Lynda Roy BA MSW difference particularly with young women and girls This negatively impacted my self esteem and my body image for a very long time When you live with any type of physical difference the focus growing up is often on what your body cannot do and not on celebrating the ways that young people learn to problem solve by doing things differently Independence is often narrowly defined too For example often the messages we receive as children is that wheelchairs are not a way of being independent but a way of being dependent This is not true for many of us with physical limitations As recently as two years ago I decided to get my first power wheelchair This was a huge decision for me and to this day I struggle with it despite the reality that in order to keep working I need a mobility device not just a car where I can cut down on my stress and fatigue and focus on my work A power wheelchair has helped to crea
12. A b 25 ej r TU gi MWYS i ma i et ie 4 ig Lon ms Pa Fw A y dw Ud kt Arad x wa Uk Ma iE gt 93 Abdominal chest and pelvis Relating to the abdomen which is between your Achilles tendon The tendon on the back of the ankle that attaches the heel to the leg Acidosis A condition in which there is too much acid in the body fluids Active stretching Where you assume a position and then hold it there with no assistance other than using the strength of your stretched muscles Acute An acute symptom is one that begins quickly or only lasts a short period of time Advance directive for medical decisions Advance directives are legal documents that allow you to explain your decisions about end of life care ahead of time They give you a way to tell your wishes to family friends and health care professionals and to avoid confusion during a future time of failing health Ambu bag A bag valve mask abbreviated to BVM and sometimes known by the proprietary name Ambu bag or generically as a manual resuscitator or self inflating bag is a hand held device commonly used to provide positive pressure ventilation to patients who are not breathing or not breathing adequately Ambulatory Relating to walking Anesthesia A drug or intervention to supress pain to permit the performance of a surgery or procedure Can be generalized or local Apnea The suspension or pause of external breathing During apnea there is n
13. Sour taste in the mouth e Feeling something in the back of the throat particularly after eating or drinking Irritated throat or swollen nodes Mild airway constriction e Aspiration leading to frequent lung infections Reflux is treated using medications to decrease the amount of stomach acid and by keeping the person in a suitable position usually upright during meals and after eating for at least a half hour If those methods are not successful your GI specialist may prescribe a medication that speeds up stomach emptying Sometimes freguent recurrent vomiting is a problem in those with CM leading to dehydration aspiration pneumonia and or weight loss Anti nausea medications can be helpful when freguent vomiting occurs outside of a stomach illness Sometimes symptoms can be severe enough to reguire an operation called a Nissen fundoplication in which part of the stomach is wrapped around the esophagus to reinforce the valve that normally keeps stomach contents from going up Surgery is only considered if all other options have failed Drooling Drooling occurs because the weakness in face and swallowing muscles prevents people with CM from closing their mouths and spontaneously swallowing their saliva Sometimes drooling is a sign of a severe swallowing problem Lip strengthening exercises such as blowing bubbles puckering saying oo and puffing your cheeks out with air o may be helpful to some who are mildl
14. about 50 minutes from my home my parents encouraged me to live at college They said You need to get that college experience If I didn t like it for the f rst year I could come back and live at home for the remaining years Given that everyone s disability affects them differently please think of all the pros and cons to this decision before making it But if it is at all feasible I strongly advise you to live on campus at your college e Meet with a vocational rehabilitation specialist to learn about programs and driving options e See if you could drive with vehicle modifications Plan for what mobility equipment you will travel with when deciding upon a vehicle to purchase 3 Transportation Considerations e Public transportation may be accessible to you and more feasible or convenient than driving e Ride share programs e Volunteer drivers e Medical transportation company e Travel reimbursement for medical appointments Recommendations e Meet with a social worker and or vocational rehab specialist to learn about available options 4 Community Life Considerations Goal setting Finding opportunities Volunteering Socializing Financial management High health care costs Safe living arrangements Level of independence achieved Home nursing care Assistance through government programs Self advocacy University training or job Scholarship availability Letters of reference from teachers doc
15. also contain sugars and salts electrolytes in the right measure to COMPREHENSIVE CARE 13 replenish what the body is missing For sudden severe dehydration watch for the symptoms mentioned above and also for signs of unusual sluggishness lethargy and extreme tiredness e pounding or irregular heart beat sudden changes in breathing e dizziness e delirium e fainting and loss of consciousness This type of sudden severe dehydration can be life threatening and often requires immediate replenishment of intravenous IV fluids through a vein at the hospital A trip to the emergency room will be required if you are unable to rehydrate the person within a couple of hours on your own Ideally homemade rehydration drinks should contain e starches and or sugars as a source of glucose and energy sodium salt potassium 5 Malignant Hyperthermia MH rThis is a rare condition in which some people with CM who are undergoing surgery and given certain types of anesthesia or muscle relaxants can develop very high fevers and a high metabolism It is a dangerous condition and requires close monitoring If you need to undergo surgery your neuromuscular specialist should discuss with you the risks and benefits of the procedure including the risk of malignant hyperthermia when given anesthesia Succinylcholine and halothane are the types of anesthesia that should be avoided The anesthesiologist should use a clean techniq
16. at all However a speech and language pathologist can help in finding other ways to communicate Oral and Dental Care The health of your teeth and mouth will have an effect on your overall health Without good oral care the bacteria in your mouth can reach high levels and cause infections The following is a summary of oral health complications and treatment Dental hygiene e See a dentist twice a year starting atage 1 Brush teeth at least twice a day from time of first tooth or after meals e Someone with low muscle tone may find it harder to clear the mouth of foodstuff Regular brushing will also help prevent aspiration of any residual food left in the mouth after oral eating Assist as needed and position the person for best access to the teeth e Use assistive devices to promote independent brushing e Use a mouth rinse if there are not swallow safety issues and you can do the swoosh and spit actions If aspiration is a concern use a soft foam oral mouth swab to clean around the mouth gums and tongue Hypersensitivity of mouth e Pediatric dentists or occupational therapists can offer technigues for those who resist teeth brushing Misaligned jaw and teeth or crowded teeth e An orthodontist may help with misaligned oral anatomy FEEDING NUTRITION amp ORAL CARE 50 malocclusion Take into account the amount of weakness and means of maintaining the correction long term Sometimes in CM the m
17. be made in collaboration with your medical team It is important that preparation for transitioning to oral feedings starts when the feeding tube is first placed You should have an oral motor stimulation program that you do daily with each meal time while tube feeding This helps avoid oral aversion so you can resume eating by mouth with fewer setbacks once it is safe to do so You or your child need to associate the mouth with hunger being satisfied For example you feel hungry and you eat feeling and tasting the food in your mouth and subsequently your hunger is satisfied However people who are only tube fed need help making this connection Oral Stimulation Ideas During Tube Feeding Use a silky piece of fabric to stroke the cheek moving toward the lips Use a nubby brush or soft toothbrush to gently stroke the cheek working toward the lips Use a popsicle cold wet sweet to rub small amounts on the lips and encourage the person to lick it Use vibrating toys designed for the mouth such as a vibrating teether Consult with a speech or occupational therapist for more ideas Oral Exercise Ideas if age appropriate e Stick tongue out and swallow to strengthen the swallowing muscles Push tongue into each side of the cheek and into the roof of the mouth and encourage to lick lips e Lip exercises such as tight closing pursing of lips Use a fat straw and a piece of paper with the aim of sucking the paper
18. excavatum or narrow This can impair lung capacity and should be treated early with breathing therapy which will be explained later in this section Someone with CM will benefit from being seen by a team of doctors that specialize in treating children or adults with neuromuscular conditions like CM Most importantly caregivers need to be well trained in technigues to manage the airways in someone who develops breathing problems associated with their CM What is Ventilation and Why is this Important to Understand Ventilation is the process whereby your chest wall expands during inhalation air enters the lungs oxygen goes into the blood and carbon dioxide is exhaled Proper ventilation is often difficult for people with CM because of weakness of the muscles involved in breathing Scoliosis can impair chest expansion and then lead to problems with ventilation so breathing management will reguire careful follow up between an orthopedic surgeon and a breathing specialist Decreased lung volumes lead to carbon dioxide build up over time When there are ventilation problems you may see the carbon dioxide level go up before you see the oxygen level get dangerously low This is why measuring the carbon dioxide level in people with CM is just as important as measuring oxygen levels RESPIRATORY MANAGEMENT 19 These are common symptoms that may indicate respiratory problems e Fatigue e Appearing anxious e Weight loss or poor
19. food on her lip or tip of tongue and encouraged her to taste it began with mild diluted tastes and slowly increased taste intensity according to her responses I sometimes dipped a clean baby cloth into water for her to suck on Small drops of flavored liguid offer the least texture and are easier to start with I varied the taste gradually not just sweet so that she would accept the taste of many foods from all food groups including vegetables Children are drawn to foods given at an early age and I wanted preferences to include healthy foods My daughter needed to follow bites of purees with liguid to help clear the back of the tongue and throat She FEEDING NUTRITION amp ORAL CARE 43 How One Mom Transitioned her Child From G Tube to Oral Feeds still uses this clearing tactic today Any signs of panic disorganized swallowing or retching are indicators to step back to a previous texture taste method or stage tried to keep aware of her preferences and readiness to move forward and adjusted accordingly I let her dip a spoon toy or finger into things to taste like pureed fruits veggies yogurt or ice cream We then worked up to stickier foods like cream cheese Food texture was changed very gradually I tried to limit mealtimes to 30 minutes although went as long as 45 minutes when needed Snack times would be 15 minutes or so At first she was completely disinterested in eating and even had some aversio
20. her the option of eating by mouth definitely enjoys eating and continues to maintain a good weight years later coordinate the muscles needed for safe eating and drinking by mouth See the Appendix to learn more about transitioning from tube to oral feeding including a sample weaning treatment plan Also see the personal account on previous page of how one child with oral weakness and swallowing dysfunction eventually transitioned successfully from g tube feedings to oral feedings aa re Safety When Some people are still able to enjoy food IN aung by mouth even though they have a g tube People with CM or PEG tube Tube feedings sometimes generally have difficulty controlling thin liquids swallowing thicker textures and chewing harder foods There are several strategies amount by mouth that may work for your child under the guidance of a feeding specialist Common suggestions include Position yourself to make it easier to eat such as your head being up higher from your stomach so that contents travel down with the help of gravity Ask your speech feeding therapist or occupational therapist about modified utensils and other feeding aids for infants toddlers children and or adults depending on your needs Use safe swallowing methods and avoid distracting activity talking or laughing while eating Make food easier to eat such as thinning if too dense thickening runny liquids peeling skins off
21. is a simple non invasive test that measures the following the amount of air that can be exhaled after a maximal e Use a cough assistance machine or manual cough inhalation also called forced vital capacity or FVC g g assistance see Appendix for instructions to help remove The FVC is often converted into a percent of predicted FVC secretions or mucus plugs Follow up with suctioning to predicted This value reflects the percentage of air volume remove loosened mucus as needed exhaled compared to an unaffected person of similar height or length sex race and age Inappropriate Oxygen Use The forced vital capacity is usually After being admitted to the ER of a reputable measured while sitting A difference children s hospital for respiratory distress my in FVC predicted when lying daughter was getting over 10 liters of oxygen down compared to sitting may with no BPAP support Her oxygen levels were indicate increased diaphragm muscle good 97 or so but obviously no one was weakness Based on this result your thinking about carbon dioxide My daughter doctor may recommend a sleep study was very young and we were still new to the diagnosis and her care so we to check for decreased breathing had no idea this treatment was all wrong for her at night even if the sitting FVC predicted is within the normal range Once we saw an actual doctor about 50 minutes after getting admitted he recognized the problem o
22. know for sure if there is hardened stool blocking the intestines The treatment for this is increasing your fluid intake and using a higher dose of laxatives stool softeners or enemas to remove the obstructing stool Sometimes an intestinal clean out done at home may be needed to remove hardened stool The process is simple and usually provides needed relief quickly Ask your GI specialist what products and process you should use at home to accomplish this Your bowel health is influenced by what you eat and drink If you diverge from your normal diet for some reason you will likely see changes in your bowel movements Ideally you should be able to empty your bowel each day or every other day If you find you have not been able to have a bowel movement for three or more days and laxatives are not helping you should see your doctor Constipation can lead to serious health problems if it goes on too long Reflux also called GERD Reflux is the movement of stomach contents up into the throat or nose It causes a burning sensation for some people but others may just feel something in their throats It can inflame the throat lining over time and lead to other oral health problems Symptoms of reflux include one or more may be present e Pain or burning in the upper belly chest or throat after eating drinking Burping spitting up or vomiting during or after eating drinking e Bad breath odor from the stomach contents
23. less reserve at the end of the day than people who do not live with CM I think a big part of mental well being is keeping active For many of us having to make the daily grind to work can prove impossible for a variety of reasons Volunteering is a really great way to pursue your passions Keep busy and meet new like minded people For me I think what has contributed most to mental well being is having diverse interests and good solid relationships with people around me I enjoy having downtime with friends and close family members I like to be around people that make me laugh I don t want someone who is always talking to me about disability because that indicates to me that they are seeing me in a very one dimensional way At the same time I do not want someone who pretends my disability doesn t exist My experiences have been informed by many aspects of my identity and disability is one of those pieces Ignoring someone s disability feels odd and is somehow invalidating of an essential part of who we are I think 5 What else is important to understand about mental wellness in the context of congenital myopathy I think that the social determinants of health and our level of access to housing employment and social and recreational activities plays a vital role in our mental well being This is no different for people living with congenital myopathies Appen IX 67 APPENDIX 68 CoughAssist Protocol Adult Ple
24. level What does this mean It means self selecting out of social events like dinner parties because of fear you ll have to reciprocate It means not being able to get a Sym membership or take a course These are all things that foster meeting new people and developing new friendships 4 How can people with myopathy improve their mental health at each life stage Parents can play an important role in ensuring that their child has positive self esteem Talk openly and honestly about your child s disability Listen carefully to what your child is asking and answer exactly what your child is asking If they are asking they are ready for the answer We all have heard negative things about what it is like to live with a disability but that shouldn t dictate your perception of what it s like In order to support children with disabilities it is important to unlearn these negative stereotypes and to appreciate and celebrate your child for all of her COPING WITH A DIAGNOSIS OF CM 66 his uniqueness Disability will always be a part of who your child is but as long as it s not the defining characteristic of your child and other parts of your child s identity are celebrated this is just fine For those of us who are employed I think a work life balance is very important I know I haven t always been great at finding that balance for myself but I know that I need to pay attention more to my body and to my moods We have
25. muscle disease back I think I could have included them a little more in his daily care and routines which might have helped them bond more Nurses felt a bit obtrusive in our home but at the same time a necessity so that I could be freer We were also very fortunate to have grandparents nearby who were happy to help with the two older ones and I was only too glad to have them be in Grandma s loving care Our lives changed with regards to family vacations and outings We made it work by having nurses come for Saturday afternoons so we could take the older children skiing in the winter or out on the lake in the summertime Trying to keep their lives aS normal as possible was important to me Bigger vacations and time away without our son was made possible by having a special nurse with whom we had avery high degree of trust take him to her house for a few days We would pay her extra money from a respite fund and we knew he would be safe and happy while we either as a couple or as a family got a much needed and refreshing break Looking back after a number of years I see that overall things went well for my family but if there is anything that could have been done better it would be to have seen a family counselor as a family aS a couple and as individuals A counselor can help guide focus and even lead when needed A counselor understands the difficulties you are encountering Solving these challenges with some h
26. myopath Gene symbol Cap myopathy Congenital fiber type disproportion Centronuclear myopathy CFL2 Nemaline myopathy CCDC78 Centronuclear myopathy CNTN1 Compton North congenital myopathy Centronuclear myopathy KBTBD13 related myo Kelch repeat and BTB POZ domain contain Nemaline myopathy pathy ing 13 KLHL40 related myopathy Kelch like protein 40 Nemaline myopathy KLHI41 related myopathy Kelch like protein 41 LMOD3 related myopathy Nemaline myopathy MYF6_ MYF6 related myopathy MYH7 MYH7 related myopathy Myosin heavy polypeptide 7 cardiac muscle beta o Myosin storage hyaline body myopathy Mtiltiminicore disease Congenital fiber type disproportion Nemaline myopathy po capmyopathy RYRI Centronuclear myopathy Congenital fiber type disproportion Dystrophic features and minicores Centronuclear myopathy Myotubular myopath Pt ALO Og D S S SiE S E SZ S Ry nd ian W d gt mt Opa J aS DID a O S gt e Go Central cores with hypertrophic cardiomyopathy Centronuclear myopathy Nemaline myopathy I nclusion body myopathy Laing distal myopathy lt Multiminicore myopath Central core myopathy Core rod disease or variant of nemaline rod myopa Selenoprotein N1 Congenital fiber type disproportion Multi minicore myopath TNNT1 Nemaline myopathy TPM2 Nemaline myopath Congenital fiber type disproportion TPM3 Nemaline myopathy so _ h capmycpathy Congenit
27. normal function has returned i e walking breathing sitting Anesthesia should be carefully chosen because some mutations especially those affecting the RYR1 gene are known to cause malignant hyperthermia MH The muscle relaxant succinylcholine and anesthetic agent halothane should be avoided The anesthesiologist should use a clean technique which means that the equipment was cleaned of all traces of anesthesia used on a previous patient They should also have the MH rescue medication dantrolene on hand in the surgery room Make sure your surgery team knows you may be at risk for MH After Surgery You will need aggressive and expert pulmonary care You will be cared for in the Intensive Care Unit You may be on a mechanical ventilator to assist your breathing for a while even if you have never needed to before Your doctors will wean you off the machine gradually if mechanical ventilation is not needed long term Airway clearance may be helpful post surgery It is common to be weaker after a major surgery so aggressive rehabilitation is very important By getting you mobile soon after surgery your therapist can help ensure your weakness does not worsen Rehabilitation therapists will evaluate you for the following Feeding self feeding may be difficult reguiring use of adaptive devices or a temporary feeding tube to help you eat Mobility transfers wheelchair modifications and home care supp
28. occur in those who participate in physical therapy and other physical activities to the greatest extent possible In mid to late adulthood muscle weakness may gradually worsen as it does with everyone as they age With age breathing concerns may show up and scoliosis may develop or worsen If walking is achieved that skill is usually not lost until much later in life although walking may become more tiring or difficult with advancing age Some people will experience worsening of symptoms in the teen years or early adulthood Walking can also sometimes be affected by a rapid growth spurt such as during puberty when the muscles may take longer to catch up with a growing skeletal frame Life span varies based on the CM subtype genetic mutation severity and ultimately on breathing function Unless there is severe respiratory failure during infancy most children with CM live into adulthood Brain Involvement Children with CM usually have normal intellect In one report three children with ACTA mutations were found to have a developmental delay in word comprehension Another report found two children with BIN1 mutations to have mild mental retardation in addition to skeletal muscle weakness More studies are needed to determine if any relationship exists between cognitive delays and CM Respiratory Management Good airway management and treatment may enable an infant child or adult to have a better guality of life and a
29. onto the end of the straw then releasing it after a few seconds e Practice dry swallows Knowing When to Transition Transition to oral feeding often reguires a team approach For children the caregiver will serve as the main player Teams may include a nutritionist dietician feeding speech therapist behavior therapist if behaviors are a barrier to eating a nurse and or physician with experience in transitioning children with CM from tube to oral feeds First check for readiness The following guestions are considered 1 Is it safe to feed based on video swallow study results and observation of oral motor skills 2 Has the person shown appropriate growth or maintained bodyweight on tube feeds 3 How many calories does the person need to eat daily to continue growing or maintain body weight 4 Are you and other caregivers ready to transition Do you have the time to devote to transitioning 5 Has the medical team given clearance to start oral feeds 6 Are you trained and aware of the signs and what to do if a choking incident occurs One of the initial steps in transitioning is to safely promote hunger Often a child will not show hunger until they have reached an appropriate weight for height so that is the top priority The tube feeding schedule needs to be normalized into meals and snacks After the feeding schedule is normalized calories are decreased in gradual increments and that volume replaced wi
30. road to GPB For individuals with weak inspiratory muscles and no ability to recovery breathe on their own GPB can provide normal lung ventilation and perfect safety throughout the day without using a ventilator or in the event of sudden ventilator failure day or night The technigue involves the use of the glottis throat to add to an inspiratory effort by projecting gulping boluses of air into the lungs The glottis closes with each gulp One breath usually consists of 6 to 9 gulps of 40 to 200 mL each During the training period the efficiency of GPB can be monitored by spirometrically measuring the milliliters of air per gulp gulps per breath and breaths per minute A training manual and numerous videos are available GPB is rarely useful in the presence of an indwelling tracheostomy tube It cannot be used when the tube is uncapped as it is during tracheostomy IPPV and even when capped the gulped air tends to leak around the outer walls of the tube and out the stoma as airway volumes and pressures APPENDIX 75 Tips for Managing a Scoliosis Surgery Written by the Parent of a Child with CM Our child with congenital myopathy went through a spinal fusion surgery at age 12 Here are some tips we learned from it Research Your Doctor If you or a loved one are starting to have worsening curvature of the spine you may want to consider consulting with several spine surgeons prior to the need for surge
31. symptoms or be able to describe what they are experiencing you should have regular examinations of your child s hearing and ear pressure For persistent cases surgical insertion of tiny tubes in the affected person s eardrum usually solves the problems associated with eustachian tube malfunction NEUROMUSCULAR CONCERNS 16 Weakness and Incoordination of Muscles Used in Speaking Weakness of the diaphragm throat mouth soft palate and facial muscles may also lead to difficulty with speaking More information on speech concerns can be found in the Feeding Nutrition and Oral Care chapter of this guide Weakness Leading to Orthopedic Complications Orthopedic problems such as dislocation of the hips joint tightness or an abnormal curve of the spine are often encountered as a result of muscle weakness More information on orthopedic concerns can be found in the Orthopedics and Rehabilitation chapter of this guide Weakness and Deep Tendon Reflexes During medical visits your doctor has probably checked your reflexes using the small rubber tipped reflex hammer In CM a person s deep tendon reflexes can be low hyporeflexia or absent areflexia Joint hypermobility another common occurrence in CM means having greater than normal flexibility Weakness in Eye Movement or Eyelids Weakness of the eye or eyelid muscles can occur in people with certain types of CM like Centronuclear Myopathy Fortunately most children d
32. team Health care providers from different specialties working together to see patients during a single consultation Intestinal motility The movement of waste spontaneously through the intestine Intravenous IV Administering a drug nutrient solution or other substance into the vein Kyphosis Atypical curvature of the upper back seen as a hump Lethargy A state of being drowsy listless unenergetic or indifferent Sluggish inactivity Ligaments The fibrous tissue that connects bones to other bones Lordosis Atypical forward curvature of the spine in the lumbar region resulting in a swaybacked posture Lung function How well your lungs work Malignant hyperthermia An allergic reaction to some types of anesthesia medicines given to people to make them sleep through a procedure This can be a life threatening reaction that causes the body to over heat Malignant hyperthermia treatment Dantrolene is a muscle relaxant used to treat this Malocclusion Imperfect positioning of the teeth when the jaws are closed Maxillofacial Of or relating to the jaws and face Mechanical ventilation Assist with breathing using a ventilator Microscopic appearance Too small to be seen with the naked eye but large enough to be studied under a microscope Milestones Important skills expected at certain times during child development such as rolling over sitting up crawling walking talking etc GLOSSARY 97 Motor m
33. that covers the iris pupil and anterior chamber Dantrolene A muscle relaxant used to treat malignant GLOSSARY 95 hyperthermia that acts by abolishing excitation contraction coupling in muscle cells probably by action on the ryanodine receptor De novo De novo is a Latin expression meaning from the beginning and a de novo mutation is a genetic mutation that neither parent posessed nor transmitted Deformity A distortion or disfigurement of the body Dehydrated Severely lacking in water nourishment Delirium A syndrome that presents as severe confusion and disorientation developing with relatively rapid onset and fluctuating in intensity Diaphragm The dome shaped sheet of muscle and tendon that serves as the main muscle of respiration and plays a vital role in the breathing process Dietician A health care provider specializing in nutrition or dietetics Discrepancy Adifference especially between things that should be the same Dislocation Putting out of joint or out of position as a limb or organ Disorder An abnormal condition affecting the body DNA DNA stands for deoxyribonucleic acid It is contained within the cell s nucleus in the form of chromosomes of nearly all living organisms It is the carrier of genetic information from one generation to the next Dual energy X ray absorptiometry Also known as DEXA A means of measuring bone mineral density Two X ray beams with different energy levels are aime
34. the blood Bolus feed A single dose of a nutritional preparation given all at once Botulinum toxin A powerful neurotoxin that causes muscle paralysis and has been most widely used in cosmetic procedures to reduce wrinkles but has been used to treat drooling problems in some people with CM Breath stacking A technique to expand lung capacity and to help form a productive cough for someone with weakened respiratory muscles Can be performed with or without assistance but basically involves taking a small breath focusing on filling the base of your lungs and holding for a second Then without exhaling take in a larger breath and hold for one more second Finally take a big breath that fills your lungs as much as possible and hold for three to 10 seconds Canine assistants A dog specifically trained to help people who have disabilities including visual difficulties hearing impairments mental illnesses seizures diabetes autism or physical limitations Capnograph A device that monitors the concentration or partial pressure of carbon dioxide in respiratory gases Cardiologist A doctor who specializes in the study of the heart and its functions in health and disease Cardiomyopathy A group of chronic disorders affecting the muscle of the heart resulting in impairment of the pumping function of the heart and can cause heart enlargement Cells microscopic in size cells contain nuclear and cytoplasmic The basic structura
35. the care of an experienced medical team in a hospital setting rather than an outpatient setting so that any unexpected circumstances can be handled by a prepared medical team Orthodontia is not recommended for everyone with CM that has oral and jaw problems however In some people with severe CM and very weak facial muscles the risks might outweigh the benefits or the benefits may be short term if there is no way to maintain the correction FEEDING NUTRITION amp ORAL CARE 51 Benefits of Early Orthodontic Treatment in CM What Our Experience Taught Us Written by Parent of a Child with CM Orthodontics is the science and art of redesigning the genetically established growth pattern Some patients families may decide to wait until growth has completed to do any work or may decide against any treatment Our orthodontist believes that redirecting the growth pattern throughout childhood is ideal for those with CM and may be enough to avoid surgical reconstruction later In our experience with orthodontic treatment have to agree with our orthodontist There are benefits to correcting jaw anomalies early that you might not think about such as 1 Teeth that do not line up cannot be used for chewing food 2 A mouth that is too narrow will not allow the tongue to move about as it needs to during eating and speaking 3 A mouth that is too narrow will cause crowding of teeth which leads to A Self esteem problems
36. to treat excessive saliva without affecting muscle in some people with CM Please refer to the Respiratory Management chapter for more information about Botox use in controlling excessive saliva Adaptive Eguipment One of the main goals when treating CM is to safely help maintain overall mobility and independence People with CM are at a greater risk of falling and may suffer more severe injuries when they do fall due to an inability to break their fall For children not being able to access their environments can lead to secondary cognitive and social dysfunction Improving mobility can result in many advantages for children including increased awareness of their environments better coordination more vocalizations and more contact with others with an enhanced motivation to explore their surroundings Use of devices scooters wheelchairs and accommodations can help such as Ride on toy cars for children s mobility These can be modified to suit individual needs Canes walking frames orthotics swivel walkers These can be used early on to help promote and maintain walking Manual and power wheelchairs Can be used by children as young as 2 years Points to consider Good support to pelvis trunk and head if needed Lap belts for safety Some may need chest straps Comfortable and customized seating to handle all your needs It may take some time to receive your power wheelchair so it s best t
37. was wrong but what they did know was that he had trouble breathing on his own he could not close his mouth to suck and he needed suction to help him keep saliva from going down his airway Keeping vigil night and day watching monitors in the NICU was all I could do Coming home with him after two months was a grand occasion full of excitement that we were making progress and anticipation that maybe some sense of normalcy might be on the horizon What no one could prepare myself and my family for was the invasion of the small army of nurses respiratory therapists specialized equipment physical therapists and others The buzzing of equipment that turned my son s room into a mini intensive care unit Nurses who would be in our home at odd hours like 10PM or during dinner All this makes for a huge adjustment on the part of each family member perhaps especially our other two children They had less quality time and energy from me and their father and the much anticipated arrival of their baby sibling turned out to be worrisome and disappointing for them I m sure I was concerned about them feeling too much of the impact so I made sure that each day I had a nurse come in the afternoon so I could do things with them as I had before like helping with homework or taking them to piano lessons They held their brother and played with him now and then Looking A short story from a mom of a high tech special needs child with a serious
38. 35 or 40 for 1 2 seconds 2 ETT suctioning followed by bagging 3 Vest Therapy or Chest PT or Percussor for ____ minutes with albuterol if prescribed 4 Cough Assist 5 sets of 5 breaths as above 5 ETT suctioning followed by bagging Cough Assist can be used every 10 minutes followed by ETT suctioning and bagging CONSIDER EXTUBATION when the patient is e Afebrile NOT reguiring supplemental O2 CXR is without atelectasis or infiltrates Off all respiratory depressants Minimal secretions AFTER EXTUBATION EXTUBATE to nasal ventilation and NO supplemental O2 eg BIPAP of 14 20 3 6 using spontaneous timed mode backup rate spontaneous rate After EXTUBATION minimum of g 4 hours airway clearance 1 Cough Assist may be needed as often as every 10 minutes 2 Cough Assist 5 sets of 5 breaths then suction then re expand w inspiratory breath 3 Vest Therapy or Chest PT or Percussor for ___ minutes with albuterol as prescribed 4 Cough Assist 5 sets of 5 breaths then suction then re expand w inspiratory breath Wean from nasal BIPAP or ventilation during the day as tolerated GOAL only with sleep Use Cough Assist if O2 sats drop to lt 9590 acutely Wean airway clearance regimen to 2 4 times a day Adapted from Univ of Wisconsin Mary Schroth MD 12 20 04 handout Bach JR et al Spinal muscular atrophy type 1 a noninvasive respiratory management approach Chest 2000 117 1100 Bach JR et al
39. A Guide for Families Contents Foreword 3 Preface 4 About the Contributors 5 Introduction 7 Chapter 1 Comprehensive Care 10 Chapter 2 Neuromuscular Concerns 15 Chapter 3 Respiratory Management 18 Chapter 4 Orthopedics amp Rehabilitation 30 Chapter 5 Feeding Nutrition amp Oral Care 40 Chapter 6 Understanding Genetics amp Testing 53 Chapter 7 Transition to Adult Care 57 Chapter 8 Coping with a Diagnosis of CM 61 Appendix 67 Resources for Families 86 Glossary 93 Foreword Whether you ve just received a diagnosis for your child or have known about it for quite some time we trust that The Care of Congenital Myopathy A Guide for Families will be a valuable resource for you This guide represents the expertise and experience of medical professionals and families like yours from all around the world As you know your child is unigue Not every scenario treatment or therapy presented here will apply to your situation However this guide will eguip you to be a strong advocate while giving you much to think about and discuss with your medical team Throughout the following pages you will find personal stories and photographs contributed by families who want to remind you that you re not alone on this journey It is their hope that these words and images will provide you with helpful advice encouragement and a fresh perspective Preface This family guide summarizes the work performed by the International Standard of Ca
40. Extubation of patients with neuromuscular weakness a new management paradigm CHEST 2010 173 5 1033 ver 12 1 14 LFW SP DS APPENDIX 72 The Pros and Cons of Having a Tracheostomy Written in collaboration by an adult living with a tracheostomy and three parents caring for children with CM The decision to get a tracheostomy for you or your loved one reguires careful consideration Oftentimes the decision is being made under tremendous stress such as during an urgent hospitalization when decisions are even more difficult to make Below are suggestions that you may find helpful to Know as you think about getting and living with a tracheostomy Some Pros A trach may be a medical necessity to sustain life i EN Fairly short recovery time from the surgery i LEN a8 Ny e Easier access to a stable airway Easier to suction out mucus plugs and secretions during infections No need for intubation through the mouth endotracheal tube e When used with other medical devices such as suction machine y lt r Y nebulizers vest and cough assist a trach may be more effective aru L A than non invasive ventilation in clearing the airway ber a 3 e No breathing mask is needed on the face n cc A Some Cons aa F There is recovery time from the surgical procedure e You may require nursing care in the home because of the trach e Your school may require a Registered Nurse to
41. Failure to thrive means there is poor weight gain or too much weight loss in children This is also referred to as being undernourished Your doctor may suggest feeding through a tube that enters at the nose called a nasogastric or NG tube and goes into the stomach as a temporary solution If your child does not gain the ability to swallow safely or if there is concern that he or she is not eating enough calories each day then a stomach tube called a gastrostomy tube or G Tube may be inserted These two most common feeding alternatives also work well for adults with CM that need assistance for proper nourishment 4 Dehydration Becoming dehydrated is a serious condition and can happen within just hours especially in someone of low body weight During bouts of diarrhea vomiting common colds fevers physical exertion or sweating body fluids are lost at a rapid rate and serious dehydration can occur Dehydration can come on guickly acute or have a gradual onset and continual presence chronic Gradual or chronic low to moderate dehydration often presents with headaches e tiredness e sunken appearing eyeballs constipation dry skin minimal dark colored urine sticky saliva irritability e lack of concentration e low blood pressure For some there is diminished or no self awareness of being thirsty or dehydrated Rehydration drinks like Pedialyte or Gatorade help better than plain water because they
42. Feeding Tubes Nasogastric Tube and Gastrostomy Tube For those with the severe neonatal form of CM having a safe method of feeding will need to be decided right after birth For those with moderate or mild CM feeding by mouth may be feasible possibly with some challenges Not getting enough nutrition by mouth or repeated lung infections due to aspiration can slow down growth and cause health problems If poor growth continues or other feeding related health concerns persist despite good effort and guidance from a feeding specialist then a feeding tube will need to be placed The two most common feeding tubes are the nasogastric tube NG tube and a gastrostomy tube g tube or PEG tube Some children and adults who use feeding tubes are also able to eat by mouth The tube is often used to supplement calories and nutrition that some are unable to consume on their own NG Tube and G Tube Often used for short term feeding an NG tube is a tube that goes into the stomach from the nose NG tubes are usually placed while you are awake A g tube or PEG tube is a long term feeding solution This Stomach Port outside the body G J Tube ends here Jejunum middle section of small intestine Illustration by Lucinda Ladwig FEEDING NUTRITION amp ORAL CARE 42 tube goes directly into the stomach through the skin G tubes and PEG tubes are typically placed while the patient is under anesthesia by a GI doctor If t
43. Kim was a member of the Standards of Care for Congenital Myopathies group Anne Rutkowski MD Dr Rutkowski is an emergency medicine physician at Kaiser Permanente in Southern California She maintains a clinical research role at Kaiser Permanente and co leads the Congenital Muscle Disease Traveling Clinics together with the NIH The mother of a teen with congenital muscular dystrophy Dr Rutkowski is co founder and board member of Cure CMD and director of the Congenital Muscle Disease International Registry CMDIR Juliana Gurgel Giannetti MD PhD A pediatric neurologist Dr Giannetti is associate professor in the department of pediatrics at the Federal University of Minas Gerais Brazil In addition she is chief of pediatric neurology service at Hospital das Cl nicas of Federal University of Minas Gerais and chief of pediatric neuromuscular clinics at Hospital das Cl nicas of Federal University of Minas Gerais Her PhD thesis was Nemaline Myopathy Clinical Immunohystochemical and Genetic Study 2001 Lucinda Ladwig A high school Junior and current University of Wisconsin student Lucinda has excelled in academics She plans to graduate from high school with honors in 2016 already having several college courses completed Some of her academic interests include gender and minority studies graphic design and research Lucinda provided the valuable perspective of someone that has a congenital myopathy for the devel
44. NJ Tube Pros Non surgical Can serve as a trial run before moving to a more permanent tube such as the GJ Can be used when there are stomach issues since it bypasses the stomach NJ Tube Cons The tube needs to be placed by Interventional Radiology using X rays to insure correct placement into the intenstines Many hospitals perform this procedure under sedation while some larger children s hospitals do not You will need to check with your hospital Your child will be continuously fed There is no bolus feeding to the intestines Your child can be off as many as six to eight hours Feeding schedules vary based on nutrition and hydration needs It is a bigger deal if your child pulls out the tube because you will need to get it placed by Interventional Radiology In addition there are all the same cons as for an NG ND Naso Duodenal Runs from nose to entrance of intestines ND Pros and Cons Not a common tube and has similar pros and cons to the NJ tube GJ Gastric Jejunal Button is placed at stomach and tubing runs to stomach for venting and giving medicine and also to small intestine for feeding GJs come in short children s and long adult sizes Longer lengths tend to stay in place better and can be used in children Button GJs are much easier to work with in children GJ Tube Pros e Feeds directly to the intestines important for those with severe reflux vomiting delayed gastric emptying
45. Newborn babies with clubfoot should have non surgical correction using serial casting or nighttime splinting Serial casting is when several casts are used one after another until the desired position is achieved Each cast can be positioned a little further than the last allowing the goal to be reached slowly over time Splinting involves wearing a rigid or flexible device that covers the bottom of the foot and half way up the lower leg to keep it in a specific position during sleep Heel cord lengthening surgery can also be done An older child or adult with foot deformities will need to carefully weigh the surgery s risks and benefits against the possibility of increased deformity and pain Leg Bone Fractures A fracture of your leg bone no matter the cause should be treated with splinting casting or surgery followed by aggressive rehabilitation to prevent loss of ambulation if achieved Surgery may involve inserting a metal rod into the bone to stabilize it Rehabilitation should start soon after surgery Casts should be lightweight and can be designed to include joints that still allow for walking Bone Health Bones can easily become thin osteopenia and brittle osteoporosis as a result of limited mobility and weakness This makes the bone prone to fracturing sometimes even without trauma The following can optimize bone health e Weight bearing activity including movement exercise and even standing
46. Y MANAGEMENT 25 Handling Colds and Respiratory Illnesses During a cold or similar illness a weak cough can become weaker and it is more difficult to clear mucus form the lungs Keeping well hydrated is important People with a muscle disorder have normal lungs so if the oxygen saturation is going down it normally means more help is needed to cough and breathe NOT that extra oxygen is needed You may find the following steps helpful in keeping the lungs clear and keeping oxygen saturations above 9490 1 At least every 4 hours A Cough Assist in 5 sets of 5 breaths ending on inspiration B Airway Clearance for 10 20 minutes chest percussions or vest 2 Use Cough Assist whenever you hear or feel a rattle in chest Suction mouth when mucus is stuck in back of throat 3 If you have a breathing machine at home like BPAP use it during all times of sleep including naps 4 Use the oximeter three times a day when sick and at least once a day when feeling better If oxygen saturation is less than 94 use Cough Assist to clear secretions and then recheck oxygen saturation If oxygen saturation is 92 or less or if the Cough Assist is not helping to increase the oxygen saturation to at least 94 then call your respiratory doctor right away medical team A tracheostomy may be a necessary life saving procedure for some people with CM See the Appendix for resources on tracheostomy decision making online care guides and netwo
47. a therapy not intended to do anything Most trials will assign you randomly into either group Also neither you nor the trial doctor may know which group you belong to Clinical trials are very helpful because they remove bias when testing an intervention and can tell us if it is truly effective Basic Science Research this type of research is typically done in a lab and aims to understand the fundamentals of CM This type of research typically uses animal models of CM to identify and test medications and other options for treatment Translational Research this type of research aims to apply the knowledge gained from basic science research onto patients with CM Gene Therapy this is a type of translational research where genetic knowledge can be used to treat a disease The goal of gene therapy is to provide patients with a healthy copy of the gene that is causing CM The body can use the healthy gene to make a functional protein APPENDIX 84 Enzyme replacement therapy this is a type of translational research where knowledge of how proteins are made and function is used to treat CM The goal is to provide a functional protein ie enzyme for the body to use APPENDIX 85 CM by Gene Related Subtype This table shows a snapshot of what is documented based upon current findings at time of publication Gene Subtype Protein Deficiency Muscle Biopsy Subtype Name ACTA1 related myopathy _ Alpha actin skeletal muscle Nemaline
48. accompany you all day during school e Mucus plugs may become stuck inside or outside the trach tube blocking the flow of air Although suctioning the trach is not painful it is not a pleasant experience e Suctioning can cause irritation of the airway and more mucus production e Sometimes granulation tissue can form at the stoma The stoma can become infected e Sometimes the trach can prevent speaking ability or may result in garbled speech In some having a trach can cause you to have trouble swallowing resulting in aspiration of food saliva or liquids causing pneumonia The tracheostomy tube requires special attention such as 0 regular bronchial suctioning 0 site wound care cannula changes You must carry a suction machine and a bag with extra catheters trach tubes and trach ties with you at all times e Can lead to an increase in secretions and higher risk of infection There are certain germs that commonly form around trach tubes like pseudomonas Extra caution is reguired during swimming and bathing so that water does not accidentally enter the airway Can result in tracheomalacia floppy airway APPENDIX 73 How can I encourage movement to help development of the body and respiratory system Learning to Move What are the benefits of movement e Helps to maximize potential strength e Helps to stimulate circulation and lung expansion e Helps child explore and learn about his her body and t
49. acebook com groups MtmCnmFamilySupportandDiscussion facebook com groups mtmcnmfamilyconference The Information Point for Centronuclear and Myotubular Myopathy centronuclear org uk Joshua Frase Foundation Based in the USA www joshuafrase org JFF Facebook Page RESOURCES FOR FAMILIES 88 facebook com pages Joshua Frase Foundation supporting Myotubular Myopathy 132151230150159 ref hl Welcome Packet for MTM Families joshuafrase org uploads MTM 20FAMILY 20GUIDE 20FINAL 20VERSION pdf MTM CNM Family Conference mtm cnm com Myotubular Trust Foundation Based in the U K they support worldwide efforts with a focus on myotubular myopathy research in Europe myotubulartrust com RYR1 org will cure org Congenital Fiber Type Disproportion facebook com groups 228939138710 RESOURCES FOR FAMILIES 89 Nemaline Myopathy Nemaline Myopathy Welcome Letter scribd com doc 242743410 WelcomeLetter Update 100914 A Foundation Building Strength Founded in 2008 by parents of a child with NM dedicated to finding a treatment for NM buildingstrength org Nemaline Myopathy Facebook Page Maintained by an NM parent who is also a clinical researcher in congenital myopathy facebook com NemalineMyopathy Nemaline Myopathy Support Groups Several have been established some in different languages facebook com groups 715627125115427 facebook com groups miopatianemalinica Nemaline Myopathy Website Established in 1999 nemaline org A F
50. age Over the counter medications Prescription medications which block neuropathic pain such as Gabapentin Fatigue is very common in people with CM This could be due to burning more calories than normal because of the differences in their muscle function Supportive devices like walkers scooters and wheelchairs may prevent fatigue and promote greater mobility and independence in daily activities Evaluation and physical therapy is recommended not only for treatment of muscle pain fatigue and reduced endurance but also to provide guidance when considering mobility equipment Please go to the Appendix for suggestions to help you find mobility equipment on the Resources page Weakness of Breathing Muscles Some people with CM ane bon TE weal More information on breathing breathing muscles and concerns can be found in the need the assistance of Respiratory Management a breathing machine chapter of this guide mechanical ventilator i either temporarily or permanently starting at birth Others with CM develop breathing muscle weakness over time This is a gradual process with breathing issues starting first at night in many cases Weakness of Face and Swallowing Muscles Some people with CM experience weakness of the face and swallowing muscles Weakness in these muscles can cause sucking eating drinking and speaking difficulties If a swallowing problem is identified there are some options to conside
51. age stretching muscle developing muscle tone e Tickling Dancing e Squeaky toys from a pet shop are often easier to squeak than children s toys e Switches pressure pads needing only light pressure to make toys work e Piano pads e Air hockey particularly small executive toy size Ten pin bowling use a shoot as your child can still direct the ball even if they can t hold it e Blowing and reaching for bubbles e Vibrating toys Frog jumping bouncer e Wheeled toys board scooter tricycle alternative bikes e Use an overhead sling to encourage independent play and increase joint range of motion Bach 2004 e Vibration therapy e Electrical stimulation Anti gravity treadmill for those at least 1 422 meters or 4 feet 8 inches tall e Encouraging them to move to look at or reach for objects popping bubbles for example How Can I Improve Lung Capacity Swimming Most specialists agree swimming is about the best activity for your body and lungs Armour et al concluded that swimming exercise promotes increased inspiration and expiration developing greater chest volume and an increased number of alveoli or number of air sacs per volume of lung tissue Armour J Donnelly PM Bye PT 1993 The large lungs of elite swimmers an increased alveolar number Eur Respir J 1 Feb 6 2 237 47 APPENDIX 74 Resistive Breathing Exercisers increase during the GPB air stacking process 1
52. agnosis with an employer is only appropriate if you are obviously disabled or need accommodations Employers are not allowed to ask about a disability Practice what questions may come up about your disability and how to answer them in the most positive way Employers often find that their employees with disabilities are the best because they appreciate what they have more than many other employees Survey employers to find out what they are looking for in young people that are potential new hires things like being reliable punctual honest having good communication skills willing to learn new things being flexible Coping with a Diagnosis of CM Initial feelings with a new CM diagnosis can often include shock emotional numbness denial anger and fear for the future Many will ask the rhetorical guestion Why has this happened It is normal to go through a period of uncertainty and emotional difficulty but it is possible for families to find workable coping strategies Families including extended members differ in how they manage this new challenge Some families rally to support while others find it difficult to cope or may withdraw This also poses special challenges within a marriage Spouses may wrongly blame each other Some couples may find it brings them closer Grandparents may have trouble accepting the new family dynamics Young siblings may feel scared or cheated The primary caregiver will have overwhelming pressures Th
53. al fiber type disproportion TRIM32 Sarcotubular myopathy TTN Centronuclear myopathy O 1 ___ y gt o Centronudear myopathy with cores Cap myopathy is considered by many to be a variant of nemaline myopathy capmyopathy WN tT as m Resources for Families 86 A Short List of Some Clinical Support Resources Muscular Dystrophy Association MDA mda org Muscular Dystrophy Australia mdaustralia org au Muscular Dystrophy Canada muscle ca Muscular Dystrophy Campaign muscular dystrophy org Deutsche Gesellschaft fur Muskelerkrankungen dgm org MD Canada Respiratory Guide muscle ca living with muscular dystrophy respiratory care Malignant Hyperthermia Association of the United States mhaus org Shriner s Hospitals see website for application shrinershospitalsforchildren org Center for Noninvastive Mechanical Ventilation University Hospital Newark New Jersey theuniversityhospital com ventilation index shtml FAO on VEPTR for Scoliosis chop edu service thoracic insufficiency syndrome center veptr fags html RESOURCES FOR FAMILIES 87 Affected Individual and Family Support VEPTR Kids closed group on Facebook facebook com groups 56052176312 Support and advocacy group for parents of kids using mechanical ventilation kids with vents blogspot com Central Core and Minicore Disease facebook com groups 243087794204 Centronuclear and Myotubular Myopathy mtm cnm com centronuclear org uk f
54. amily s Blog gretabaier blogspot com RESOURCES FOR FAMILIES 90 Tracheostomy Resources tracheostomy com Aaron Bissell the inspiration Cynthia Bissell Founder Ann Schrooten contributor Attorney and mother of child with muscular dystrophy globaltrach org A multidisciplinary team of physicians nurses respiratory therapists speech therapists and patients working together to disseminate best practices and improve outcomes around tracheostomy care trachkids org medical conditions hopkinsmedicine org tracheostomy about Johns Hopkins general info youtube com watch v tslLbun 1 XI0 How to change trach tube teenager demonstrates youtube com watch v d2wSiWuTxoc Comprehensive trach care and cleaning youtube com watch v qsktXLbBtNl Trach cleaning change infants kids with vents blogspot com Support and advocacy group for parents of kids using mechanical ventilation Eguipment and Adaptive Aids Wheelchairs Scooters Feeding Pumps Etc Internet based sales and exchanges New and used eguipment Ebay com New equipment 0 Amazon com e Secondhand medical equipment 0 affordablemedeguipment com 0 infinitecdme org 0 ifmobility mcservices com chariotsofhope org 0 lifenets org wheelchair ucpwth org about 0 craigslist com freecycle org oley org eguipexchange html for feeding supplies Local Providers Loan closet Local durable eguipment sales office Easter Seals program Shriner s Hospita
55. and or splinting based on your needs In addition to the therapies prescribed for you exercising on your own is important to see and maintain improvement Aerobic Training To the extent you are able do exercises that involve your entire body and use up oxygen like walking and swimming This is commonly referred to as aerobic exercise and it can be done three to five times a week without risk This means you should do as much as you are able to do but never to the point of exhaustion Signs You May be Over Exercising 1 Pain or cramping in muscles 2 You feel weaker a day or two after exercise 3 Heart rate above 150 beats per minute 4 Shortness of breath 35 For those with significant movement limitations please seek advice from your physical therapist Not all people with CM will be able to perform aerobic training Resistance Training Do lifting activities using your own body weight resistance bands machines or light weights to the extent you are able Resistance training may increase bone density and bone strength in addition to potentially improving muscle strength Methods include e Using gravity alone to impose resistance through lifting your arms up as high as you can This is enough to sufficiently exercise the muscles for some people Using elastic bands or tubes that stretch when pulled These provide more resistance than gravity alone and therefore will challenge muscles more Usin
56. ase refer to the CoughAssist Product User Manual for complete product description including indications and contraindications for use Once it has been determined that the CoughAssist treatment is clinically appropriate the following can be used as a suggested protocol Indications For use with any patient unable to cough or clear secretions effectively due to reduced peak expiratory flow Those who might benefit from the use of the CoughAssist MI E include any patient with an ineffective cough due to muscular dystrophy myasthenia gravis poliomyelitis or other neurologic disorder with some paralysis of the respiratory muscles such as spinal cord injury It may also be used to treat ineffective cough due to other bronchopulmonary diseases such as emphysema cystic fibrosis and bronchiectasis It is effective for both trached and non invasively ventilated patients Contraindications Any patient with a history of bollous emphysema e Susceptibility to pneumothorax or ppeumomediastinum e Recent barotraumas The above contraindications should be carefully considered before use Warnings and cautions Refer to the CoughAssist User Guide Implementation of CoughAssist Attach CoughAssist user circuit to the CoughAssist output including a bacterial viral filter smoothbore tubing and an appropriate interface mask mouthpiece or trach adapter If a mask is used it should be of appropriate size to provide for a tight seal Beg
57. at is known or suspected to cause CM Sometimes a doctor will be able to make a diagnosis based on your symptoms or family history However most of the time a muscle biopsy or genetic test is needed to confirm the diagnosis A final confirmation by genetic testing is ideal The different subtypes along with the gene mutation known to cause them are listed in the Appendix Why is there so much variation in congenital myopathy The way a muscle disorder affects someone varies from person to person This is true even within a family with more than one affected member having the same genetic variant The variation could be related to many things like the age symptoms are first seen the degree of muscle weakness how the disorder affects other organs within the body or how the condition is managed Some CM subtypes can be caused by changes in more than one gene This means that some people with the same CM subtype may have a mutation in a different gene that leads to similar symptoms and the same muscle biopsy findings Also mutations in the same gene can cause different CM subtypes see Appendix Therefore it is often helpful to have a geneticist neurologist or genetic counselor explain your form of CM and your genetic mutation to you once it is known Getting a correct diagnosis of CM may take some time How can I get help managing congenital myopathy Ideally a person with CM is best monitored by a team of doct
58. at may help Add fat to your foods such as butter olive oil cream mayo nuts Puree fruits into a smoothie so that you can drink the calories of five fruit servings which would never all fit into your stomach at one time otherwise Enjoy a full fat ice cream or frozen custard shake fortified with whey protein powder Choose the higher calorie options when making food choices to get more into each bite and drink your calories whenever possible Supplement meals with high calorie drinks commercial formulas and shakes Try high calorie nut based flour in your cooking and baking purchased from Internet companies or make your own Add chopped or pureed nuts to your meals Consume calories freguently throughout the day eating during the night is an option Drink more fruit juice instead of just water e Add powdered milk to milk or milk like drinks to add calories When all else fails prescription drugs with appetite stimulation side effects are worth a try Please talk with your dietician or nutritionist for more tips on how to optimize your body weight APPENDIX 78 Principles of Transitioning from Tube to Oral Feedings Introduction For some people with CM a feeding tube is a temporary need for getting nutrition For others tube feedings will be a lifeline tool to maintain nutrition Some people use a combination of both oral and tube feeds throughout their life Deciding what plan is best should
59. ble and VPI present In particular cases an oral surgeon may decide to perform surgery to help improve speech such as through a pharyngeal A tracheostomy can also affect the ability to speak If the trach The retainer will feel weird even intrusive to the wearer at first One suggestion is to put in a new retainer while lying down so it goes in more comfortably with the initial insertion The usual recommendation is to wear it for gradually increasing periods of time each day getting used to how it feels as there is a sensation of something being in the throat Once used to it you might not feel it anymore and may be comfortable wearing it every day all day It is to be removed while sleeping though Some people are not able to wear the palatal lift during colds and other illnesses due to airway passage blockage As the child grows new lift retainers will have to be made Your health insurance might pay for one every two years but check to find out has a balloon called a cuff that can be deflated for speaking it will allow air to pass over the vocal cords Speaking is harder with a trach but some people with CM are able to do so with practice A device called a speaking valve is a one way valve used by some people with tracheostomies to speak more easily but some have trouble getting enough air to breathe when the valve is in place Some people with CM will never be able to speak without assistive devices and some not
60. breath volumes or assist with coughing In a person with CM the ability to breathe can be impaired immediately after birth or can develop later in life Muscles used for breathing in some people with CM may be weaker than the muscles of the arms and legs which can often disguise the breathing problem Therefore breathing function should be monitored early and often by a pulmonary doctor or other specialist with expertise in managing breathing muscle weakness such as a respiratory therapist neurologist rehabilitation medicine physician or physical physio therapist Weakness of Breathing Muscles and CM Subtypes The weakness of breathing muscles is the most important factor to predict life span Severe respiratory impairment requiring breathing support from birth is common in some forms of CM In some infants with CM the first year of life is when they are most vulnerable to breathing failure They therefore require careful breathing management which may help to improve breathing function and prevent breathing problems However in others with CM breathing problems may occur over time or during other physical changes such as during the 18 development of scoliosis during or after the loss of mobility or during periods of rapid growth such as in puberty Weakness of the intercostal muscles between the ribs can lead to loss of movement and stiffness of the rib cage eventually misshaping the chest The chest may appear sunken pectus
61. can of his irregularly shaped head and he cried out Mama louder and clearer than I ve ever heard I cried the whole way home but thankfully all was well Or coming to a place where I m finally content most days with letting what feels like a parade of nurses and therapists into our home And being able to live with unresolved questions about what the next course of treatment will be for him With prayer and careful research it usually becomes clear Two years ago today I had been through a night of difficult labor and still the baby was taking awhile It was difficult from a mental standpoint more than a physical one as I knew the baby inside me had clubbed feet and I wondered if something more could be wrong My husband was a continuous patient support I never could ve imagined how our lives were about to be shaken But I also couldn t have anticipated how my son s loving nature and perseverance through trials have helped us grab ahold of the sweetness of this day and how he pushes us to rejoice and be glad in it COPING WITH A DIAGNOSIS OF CM 64 St Mom Makes Maintaining Family Life a Priority hl D fom P My son was born in 2006 with very low muscle tone a weak cry and empty sacks of skin where muscles are supposed to be The shock wave of such a birth the expectation of a having a healthy baby completely dashed put me into a fog of fright and fear that lasted for many days No one knew what
62. cardiomyopathy In cardiomyopathy the heart muscle becomes enlarged thick or rigid In rare cases the muscle tissue in the heart is replaced with scar tissue As cardiomyopathy worsens the heart becomes weaker It s less able to pump blood through the body When the heart cannot beat with enough power to supply the body with blood it is called heart failure In turn heart failure can cause fluid to build up in the lungs ankles feet legs or abdomen Heart failure has been found only in rare cases with mutations in the following genes ACTAI actin a1 DNM2 dynamin 2 TPM2 tropomyosin 2 SEPN1 selenoprotein 1 TTN Titin The heart muscle could also have an abnormal electrical rhythm causing it to beat irregularly This is called an arrhythmia Brief heart failure and irregularities in the electrical activity of the heart have both been reported in some people with nemaline myopathy NEUROMUSCULAR CONCERNS 17 CM patients without symptoms should be screened by a cardiologist every two years to make sure the heart is working properly More frequent evaluations may be recommended if you have obvious symptoms or known heart abnormalities Progression of Weakness The degree of weakness can change over time either improving or worsening In general after the first few years of life gradual improvement in muscle strength can be seen and sometimes maintained into adulthood An improvement in strength is more likely to
63. care Choosing your primary care provider is important This person should be easy to reach and respond guickly to your guestions and requests This person will need to be your advocate It is important for you to actively participate in your health care Perhaps you were participating even before but when you become a legal adult you are directly responsible for the decisions made Information sharing among the team will benefit everyone and most importantly you However your medical team will be restricted in what information they can share with your family about your healthcare once you are an adult If speech is difficult for you it may be useful to have someone accompany you to medical appointments that is familiar with your unigue speech pattern to help ensure the medical team understands you and your needs Technology can also help such as having a text to speech device with you that can read out loud the statements that you type When the primary issue with others understanding your speech is hypernasality you could try plugging your nose while you speak to direct the airflow out of your mouth to better produce speech sounds CM is not a progressive condition in which muscle is being destroyed but you can experience changes in your condition over time Do not assume that every new or changing symptom is related to CM however People with CM are just as susceptible to the same diseases and age related declines tha
64. ces provide another means of communication or can make it easier for someone with CM FEEDING NUTRITION amp ORAL CARE 49 may be impossible to produce like g and k in the back of the throat or b requiring a build up of air pressure in the mouth A prosthedontist is a specialist that can design a device called a palatal lift appliance that fits like a retainer at the roof of your Weakness of the soft palate and throat muscles leads to a difference in the sound and understandability of one s speech caused by air leaking out the nose hypernasality during speech When the soft tissue soft palate towards the back of your mouth doesn t contract and your throat muscles are too weak for contracting during certain speech sounds this is flap procedure called velopharyngeal incompetency VPI In people affected in this way articulation is less precise and some speech sounds Hypernasal speech is the distortion of speech that occurs when too much air escapes through the nose when the soft palate is immobile or has very little movement Hypernasal speech is a barrier to communication for many people with CM One solution a palatal lift is described here First an impression of the person s upper mouth is taken and used to create a mold for use by a specialty manufacturer to create a custom fit retainer that has a tail that extends back under the soft palate to hold it up Thin bands attached to the
65. cision after a full discussion with your medical team family and friends from your neuromuscular community One of the most important reasons to choose scoliosis surgery is when the curve has altered the shape of the rib cage and diaphragm to such an extent that breathing is compromised Another reason to have scoliosis surgery is to help with pain caused by the curve Due to worsened weakness following the surgery some patients who could walk and breathe on their own before surgery lose that independence following scoliosis surgery Spinal fusion surgery may not completely correct the curve depending on the severity and stiffness of the spine at the time of surgery Even after you are done growing skeletal maturity the spinal deformity can slowly get worse without surgery over time because of muscle weakness What to expect if you must undergo spinal surgery Before Surgery An evaluation with a dietician for optimal nutrition several months prior to surgery is recommended to make sure you are in the best condition and health An evaluation of your jaw and neck range of motion as well as an assessment of your heart and lung function Breathing measurements pulmonary function tests are necessary Your lungs need to be strong enough to withstand surgery e Make an extubation plan with your respiratory doctors Take baseline videos photos using your smartphone of your function so that the doctors can see when your
66. ct such as understanding language and problem solving Skeletal system You may develop an abnormal curvature of the spine called scoliosis or tightening across the joints called contractures These malformations will need to be monitored Routine liver function tests and abdominal imaging studies are recommended for all XLMTM patients by a rehabilitation specialist and or orthopedic surgeon Severe scoliosis often requires surgery to prevent the abnormal curvature of the spine from causing breathing problems Also people with CM are at risk of having thin bones so regular calcium and vitamin D supplementation is encouraged COMPREHENSIVE CARE 12 Emotions Behavior Mood or behavior troubles may occur in children that realize the differences in themselves compared to other children of similar age Addressing these issues with the help of a child psychiatrist or psychologist can be beneficial Also as a person with CM goes through the various life stages they may need more emotional support Friends or family are not always available as supports or may not be enough Treating mental health issues is just as important as treating physical health issues and should not be ignored Caregiving is stressful emotionally and physically Caregivers are also at risk of mental health concerns and should not ignore their own needs Sometimes talking through these issues is enough but when talking is not effective there are medicat
67. d at the patient s bones Echocardiogram An ultrasound of the heart This test looks at the heart s structure and can help show how the heart is functioning Electrocardiogram A test that looks at the pattern and speed of the heartbeat This test is performed by placing electrodes monitors on the chest arms and legs Routine ECGs usually take less than one hour Electrocardiographic A device that detects and records the minute differences in electric potential caused by heart action and occurring between different parts of the body Electrolytes Electrolytes are minerals in your blood and other body fluids that carry an electric charge Electrolytes affect the amount of water in your body the acidity of your blood pH your muscle function and other important processes You lose electrolytes when you sweat throw up or have watery stools You must replace them by drinking fluids that contain electrolytes Plain water does not contain electrolytes Endotrachealtube A specific type of tracheal tube that is usually inserted through the mouth or nose for emergency breathing assistance Enema _A procedure in which liguid or gas is injected into the rectum typically to expel its contents but also to introduce drugs or permit X ray imaging ENT A doctor who specializes in the ear nose and throat Eustaciantube A tube that links the nasopharynx to the middle ear Failure to thrive Indicates insufficient weight gain or i
68. d braces are not worn during sleep due to the pressure the brace imposes upon breathing muscles If you use a ventilator it might be possible to wear your brace during sleep but check with an experienced medical professional before wearing it at night or during naps For those with severe core weakness bracing may be the only way for them to sit upright and can be a good option to improve sitting posture Surgery The goals of scoliosis surgery are to preserve lung function mobility and posture for as long as possible There are many types of surgeries and a recommendation will be based on your particular situation In general your medical team will try to treat scoliosis using bracing and other conservative methods for as long as possible Treatment will vary by geographic location Surgery using growing rods will often be used if a child is still growing and less than 10 years old The rods are inserted into the spinal column and can be lengthened through a small ORTHOPEDICS amp REHABILITATION 33 surgery every year or so to allow a child to grow in height This option does carry some extra risk since it reguires multiple smaller spinal surgeries When a child has finished growing a final complete fusion surgery is performed Future treatments may include magnetic growing rods which minimize invasive procedures to extend the rods as the patient grows Surgery is not for everyone You will have to make a de
69. d glossopharyngeal breathing by doctors this technique involves use of the tongue and throat to force extra air into the lungs e Manual Chest Percussion Gently hitting the back percussing using either your cupped hand or a cupped tool to loosen mucus so that it can be removed This may be done when ill or regularly when feeling well e Postural Drainage The person is positioned at an incline with head and chest lower than the hips This can be achieved using pillows or a wedge Gravity helps pull mucus from the lower lungs into the upper airway allowing them to be removed through suctioning or coughing This technigue however may not be appropriate in someone with risk for aspiration e High Frequency Chest Wall Oscillation Vest Percussive Vest A vest that is worn and attached to a machine that vibrates the chest and helps loosen mucus which is then coughed up or removed with a suction device Discuss vest use with your clinicians as it may not be appropriate for everyone Intrapulmonary Percussive Ventilation IPV A mist of saline and burst of gas are delivered throughout the entire respiratory cycle using this machine that loosens and mobilizes secretions in the lungs Use with a mouthpiece or inline for trach and vent users Medications to break up mucus or open up airways can also be used when sick such as albuterol salbutamol or dornase alfa A machine called a nebulizer delivers these medications as a mist
70. d include ramps rails and stair lift systems Parking Obtain a handicap disability accessible parking pass Ask where the most convenient parking is located for someone with a disability when you are not sure Accommodations Reguest accommodations such as sitting near the doorway for ease in coming and going from your engagements BOTOX may be used in salivary glands but should NOT be used in skeletal muscles in those with CM Other Additional pieces of equipment and aids include a shower chair reacher UUs Hoyer lift transfer equipment service dogs canine assistants and aids to help with eating drinking communicating and toileting ORTHOPEDICS amp REHABILITATION 39 Appendix Items e Tips for Managing a Scoliosis Surgery Feeding Nutrition amp Oral Care Feeding and swallowing difficulties are common in CM and can result in poor nutritional status and other health problems Some children and adults are not able to eat safely by mouth due to swallowing problems either early in life or later in life Maintaining good nutrition along with gut and dental health is important because it improves growth energy level amount of activity and breathing ability The medical team members who will care for this aspect of your health include a speech swallow feeding therapist gastroenterologist neuromuscular specialist pulmonologist occupational therapist and a nutritionist or dietician Idea
71. dysmotility or poor stomach function A previously used g tube can be converted into a GJ easily APPENDIX 81 no new surgery No more vomiting formula fed by tube exception might be children with Chronic Intestinal Pseudo Obstruction and if tube has a complication GJs can be an alternative to a Nissen for children who aspirate GJ Tube Cons Tube is placed by Interventional Radiology using X rays and may be performed under anesthesia GJs need to be replaced about every three months Button should be kept stationary to avoid displacement as opposed to the g tube which should be rotated GJs can coil up and migrate to the stomach if the J part isn t long enough Seek medical attention immediately if you see formula in G output or venting GJ tube clogs are problematic if they occur Flush tube every four to six hours with 20 mLs of water through a syringe This should be done less guickly than a flush to the g tube as water going through guickly can affect placement Continuous pump feeds are reguired There is no bolus feeding to a GJ because the small intestine cannot stretch like the stomach can Feeding schedules vary based on nutrition and hydration needs and if a child is able to eat or drink anything orally Venting the G port is reguired In rare cases continuously venting or draining of the stomach is needed J Jejunal Button is surgically placed directly into the small intestine or i
72. e affected person and the entire family will have many challenges ahead First and foremost accept that you are going to have a different family life from what you had planned or expected Hopes and dreams of the family can be redefined Keep in mind that these expectations may change as a person s function changes over time Trust in yourself to get through it Seek support from people in a similar situation that will understand you Learn how to become a caregiver that you never expected to be Establish a routine Keep learning Find joy in the simplest of things Some good ways to control stress e Make time for yourself to relax or do something you love e Make time to connect with others that you care about coffee lunch date support group etc Accept help when it s offered Ask for help when you need it Talk about your day stressors feelings etc Have a stretching routine Meditate Take a walk or exercise Sleep when you need it Maintain a healthy diet Stay organized keep to a schedule make lists It is ok to seek professional counseling or medical support as needed Coping and acceptance of a CM diagnosis can change over time Many find that the time period right after the initial diagnosis is the most challenging emotionally Finding the coping strategies that work best takes time A happy joyful family life is possible for people with CM Often the best support comes from developing relatio
73. e Parents can learn how to change the tube at home Buttons can last for months sometimes years depending on the type between changing e Inconspicuous stays hidden under clothing and low profile buttons do not stick out very far e Great range of feeding options can feed thicker liquids and foods since the tubing is wider in diameter e Variety of methods to deliver the food including bolus feeding with gravity and a syringe syringe feeding with a plunger gravity feeding with a bag and pole and pump feeding G tubes may be vented to release gas from the stomach Think of it as belly burping G Tube Cons e Surgical procedure required to place a g tube and the site is sore for days to weeks during healing e Wound healing post surgery may be problematic Although difficult to accidentally remove this can occur e The balloon holding it in place can deflate or malfunction G tubes can clog always flush feeds and medications with 7 to 10 mls of water Infection or granulation is possible around the site little blisters and redness around the stoma If you do have a Nissen done the amount of gas to vent increases Continuous tube feedings should be stopped for at least an hour prior to procedures during which a patient may have to lie flat such as radiation If tube feeds will be done at night it is advisable to elevate the head to prevent reflux NJ Naso Jejunal Runs from nose to intestines
74. e ventilation can be found on the following pages Adapted from the work of Drs Schroth and Bach the protocol is entitled Recommendations for Post Operative Care and Extubation of Children and Adults with Neuromuscular Disease Another resource is the article listed below All of these could be printed and shared with your doctors Extubation of patients with neuromuscular weakness a new management paradigm By Bach JR1 Goncalves MR Hamdani Winck JC Chest 2010 May 137 5 1033 9 doi 10 1378 chest 09 2144 Epub 2009 Dec 29 The authors Bach ef a have found this protocol to be successful in preventing tracheostomy and maintaining noninvasive ventilation i e a ventilator or bilevel positive airway pressure device connected to a face or nasal mask or mouthpiece Since protocols like this may be unfamiliar to many physicians you may need to educate your team about this approach This education ideally will take place prior to planned events like surgeries Before agreeing to a tracheostomy consider asking your clinicans to please read the medical literature on the topic by referring them to the article Many physicians assume that if a patient is too weak to breathe on their own or to cough effectively then a tracheostomy surgery is needed before extubation is possible However this may not be necessary in many situations The extubation article Bach et al is summarized below Extubation can be attempted
75. ead of height in some situations such as when a patient has a curved spine or is unable to stand What Should be Evaluated During These Visits Lungs Preventing lung infections is crucial Lung infections called pneumonia can hinder growth and lead to hospitalization In some cases these infections can be deadly How well your lungs work lung function will be routinely monitored through breathing tests called pulmonary function tests PFT In addition to getting the typically recommended vaccines obtaining flu and pneumonia vaccines are strongly encouraged Nutrition and growth Children with CM will not follow the typical growth patterns If your child fails to gain weight loses weight or gains too much weight then it should be brought to the attention of your doctor Warning signs of an eating problem include freguent choking or coughing when eating or drinking vomiting reflux and constipation These issues should be brought to the attention of your doctor right away Social A social worker can help you with the more practical aspects of living with CM such as health insurance disability services social services equipment and supplies educational needs and finding emotional support Growth Development Many with CM will have difficulty achieving motor milestones These needs can be addressed by physical occupational and speech therapists Most children with CM do not have problems with their intelle
76. ection she has a bracket behind her lower teeth that is not noticeable A removable upper retainer is worn as needed to maintain the correction of her upper teeth FEEDING NUTRITION amp ORAL CARE 52 Appendix Items e Optimizing Body Weight e Principles of Transitioning from Tube to Oral Feedings e Types of Feeding Tubes Understanding Genetics amp Testing Our chromosomes exist in every cell of our bodies Each dark band on a chromosome is a cluster of genes Stated another way chromosomes carry the genes Our genes are made up of DNA DNA has its own special alphabet made of four letters A T G C There are at least 2 000 of those letters called bases to make just one gene Some genes are made from hundreds of thousands of the letters The order of these letters is the code for how proteins in the body will be made Proteins control most every process including how we grow and develop what eye color we have and how our muscles work One way to confirm the diagnosis of CM is to perform genetic testing often done using a blood sample from the patient The two most common genetic tests are seguencing and deletion duplication testing Seguencing reads through all the letters in the gene looking for any errors or misspellings Deletion duplication testing looks for large chunks of code that are missing or extra There are many types of gene changes that can be identified through genetic testing To better u
77. ed to do so people with permanent tracheostomies should be taught to remove mucus by coughing hawking or spitting expectorate frequently and should be instructed to use positioning to avoid aspiration More details on how to minimize risk of aspiration can be found in the Feeding Nutrition and Oral Care chapter Preventing Breathing Problems Avoiding illnesses and reducing the severity of infections are critical to preventing breathing issues from worsening Reduce Exposure Thorough hand washing of the affected person and everyone who comes in contact with the person When soap and water are not close by use hand sanitizer e Stay away from others with symptoms of illness such as runny nose coughing and fever Avoid crowded places like shopping centers subways and airports e Restrict exposure to groups of children like in day care centers or schools during the cold and flu season Avoid eating or touching the face when hands are not clean Stay well hydrated and well nourished e Do not share food drinks eating utensils or lip balm with eeoecerecec eo eee eee cere eee eee eee eee eee eee eee eee eee eee others Avoid toxic smoke such as from tobacco and open fires Vaccines e Pneumonia vaccine pneumococcal vaccine given at least once after age two Flu shots every year influenza vaccine Routine vaccinations Respiratory syncytial virus RSV protection is recommended for chi
78. elp instead of all on my own might have saved some hard struggles Now with my son well into his teenage years things have eased but we still find challenges that need to be overcome COPING WITH A DIAGNOSIS OF CM 65 o Woman with CM Takes Up Social Justice D fom P Lynda Roy is a very busy person by any measure She works at a community health centre that provides barrier free access to people that live with spinal cord related disabilities including neuromuscular disorders She also works for a violence prevention organization in a program for women with disabilities Finally she is teaching at George Brown College in Toronto in the Assaulted Women and Children s Advocacy Program Phew Catching up with this fast paced social justice advocate to talk was an ambitious move and totally worth it Oh and she happens to be living with congenital myopathy 1 What led you to this field as your occupation It was a bit of a meandering path to my chosen f eld for a variety of reasons What it came down to was that I have been most interested in social justice work and supporting communities to make positive social change I found that the most innovative thinkers were community activists and academics living with disabilities I discovered that I really enjoyed reading articles and books and appreciating art that focuses on and celebrates disability particularly as it pertains to identity body image and sexuality
79. ement that the person can do Symptoms include Nausea Vomiting e Abdominal pain e Cramping Bloating Diminished appetite e Fatigue Treatment includes e Increasing fluid intake e Increasing fiber in your diet e Positioning yourself upright during and for a half hour after meals e Standing if able use a stander if appropriate e Moving and exercising regularly to the extent possible e Using stool softeners or laxatives for constipation e Using prokinetic medication for slow stomach emptying Some people with CM depend on daily doses of laxatives to keep stools soft and allow for daily bowel movements Ask your GI specialist about a maintenance dose that is appropriate for your chronic constipation You may need to allow extra time using the toilet Some find that having something else to do while sitting on the toilet helps keep them there long enough for a bowel movement to occur Some ideas include reading a book singing listening to music or playing a game while seated on the toilet particularly FEEDING NUTRITION amp ORAL CARE 47 for children Sometimes a person that is constipated will have liquid stool pass around the hardened stool and they appear to have a problem with diarrhea Using your hand you may be able to feel through the lower abdomen and identify a hard area within the person s body Pushing on it may cause discomfort to the constipated person A stomach X ray is the best way to
80. enough attention to my other responsibilities etc etc People look at my daughter and say Wow she looks so good But no one knows the blood sweat and tears that have gone into getting her here I am afraid for the future but Iam so scared to talk about it because I feel like if I start crying I won t be able to stop I wish more than anything that she is happy no matter what life has in store for her 5 Honoring a Child s Life If you ever wonder what you can do to help grieving parents remember their child Don t worry about bringing up the subject because believe me we think of our lost ones 24 7 COPING WITH A DIAGNOSIS OF CM 63 co How a Mother Finds Joy Despite Son s CM CY ae gt fom As my son turns 2 today I am thinking about the gift he has proven to be He s been expressing his wants and needs more but he doesn t ask for much He loves our nighttime routine After I hook up his continuous overnight feeding and put his clubfoot brace on he signs book by placing his hands together and opening them up Then he taps the spot beside him making sure I will sit where I always do AS we read he uses sign language to name the animals on each page The lion has been his recent favorite He runs his hands over his head and down for the mane and adds a growl for good measure He just started to say a few words too Elmo is his most complex spoken word so we ll be celebrating
81. er injury that may be caused by moving the part Subluxation When a bone comes partially out of a joint but does not completely dislocate Subtypes A subdivision of one type Symptoms _ A physical or mental feature that is regarded as indicating a condition of disease particularly such a feature that is apparent to the patient Tissue A group of biological cells that perform a similar function Torso The trunk of the human body that excludes the head and limbs Treatment group A group of patients that is given a treatment drug intervention in a research study A treatment is something that is hypothesized to directly affect the behavior or symptoms under study For example in a drug study subjects in the treatment and placebo groups may receive identical looking medication but those in the treatment group are receiving the medicine while those in the placebo group are receiving a sugar pill Velopharyngeal closure Closure of the nasal airway by the elevation of the soft palate and contraction of the pharyngeal walls This closure is reguired for making vowel sounds and for all consonants except n m and ng Velopharyngeal incompetency VIP A disorder resulting in the improper closure of the velopharyngeal opening during speech allowing air to escape through the nose instead of being directed through the mouth for correct speech sounds Ventilator A machine designed to mechanically move breatheable air into and ou
82. f using oxygen and not monitoring her carbon Th PFT can be done in children dioxide levels He got her on BPAP right away and ordered the oxygen to be six years of age or older However turned way down but that was not before her carbon dioxide levels had hit beginning the test in children as the 90s and she was acting drunk That was double the acceptable carbon young as age four may help teach dioxide level them how to perform the test It took about an hour or more on BPAP for her to get back to appropriate Traditional spirometry and other carbon dioxide levels This was before we had a BPAP machine at home tests that rely on patient exertion and when we didn t know enough about her respiratory care but now I may be ineffective or inconclusive for know much better It stinks that this happened to us and I ll do anything to individuals with severe respiratory prevent it from happening to others weakness lf possible measure carbon dioxide level to determine if the individual reguires ventilator support or a change in ventilator settings In some regions capnographs are not readily available for home use but if your doctor ordered oxygen you should have a way to measure both oxygen and carbon dioxide levels at home See capnography explained below e Rule out a lung infection pneumonia if appropriate Carbon dioxide measurement Capnography is a measure of the amount of carbon dioxide in your blood A capnograp
83. g machines such as a leg press or stationary bike commonly found at gyms or available for purchase Light free weight lifting is sometimes recommended beginning in the late teens for those who are able Weights should be lifted with good technique and under direct supervision with a spotter to prevent injury Your goal should not be to bulk up but to make some gains such as in strength function or mental wellness If you have decreased range of motion then your medical team should help guide how much if any resistance training you should do Resistance training that feels painful or leads to overexertion is not advised Balance Core Training lf able perform exercises that require balance such as sitting unsupported sitting on a large exercise ball or standing on a wobble board with supervision Where available therapeutic horse riding hippotherapy is another balancing activity that promotes core muscle strengthening Keeping your core as strong as possible may help prevent or postpone curving of the spine as discussed in this chapter All exercise programs should be started slowly with gradual increases and moderation in mind so that you are not terribly sore or severely fatigued for days after the exercise It is acceptable to feel a little sore or tired for a day following a physical challenge like exercise will induce Stretching before and after exercise can limit muscle soreness and p
84. h CM for guidance on your options e Maintain healthy diet and stay active to be in best condition for possible surgery as an adaptive response leading to an abnormal fixed curve Have a shoe insert made to correct the difference in leg lengths and wear it in your shoe for all standing and walking activities Seating Weak trunk muscles along the spine abdominal shoulder and pelvic muscles lead to a floppy or slumped posture Children and adults with CM might bend their backs into a position where they can find support leading to greater curve of the spine Seating that promotes a symmetrical upright posture and offers support for when the person fatigues is critical Degree of curvature When scoliosis is found the doctor will likely do X rays approximately every 4 to 6 months to monitor the curve Doctors measure the curve amount by degrees The higher the degree the worse the curve Any curve of the spine between 10 to 24 degrees should be ORTHOPEDICS amp REHABILITATION 32 carefully monitored by you and your doctor It is recommended that your stretching and core strengthening activities increase in frequency at this time e A curve between 25 and 50 degrees should be treated with strategies like bracing and physical therapy programs e Curves over 50 degrees often require surgical correction The better your condition and health prior to surgery the more promising your outcome is likely to be There are individua
85. h is a device that painlessly measures the amount of carbon dioxide in your breath which is closely related to the level of carbon dioxide in the blood It can be measured using a mouth piece or a nasal cannula that fits into the nostrils In a person with a tracheostomy and ventilator carbon dioxide can also be measured by adding a capnostat which is a plastic piece that fits into ventilator circuits A capnograph is sometimes prescribed by a breathing specialist to measure carbon dioxide levels at night either in the hospital or at home The CM standards of care include having a sleep study regularly with O2 and CO2 levels measured Sleep studies like the one pictured above should begin as soon as CM is diagnosed even before a person has symptoms of disordered breathing RESPIRATORY MANAGEMENT 21 Another way to measure carbon dioxide in your blood is to wrap a small sensor around a finger to measure carbon dioxide levels just under the skin transcutaneous measurement As discussed earlier in this section elevated levels of carbon dioxide are dangerous and should be treated with ventilator support and or airway clearance Do not just give oxygen to make the oxygen saturation go up without addressing the root cause of the decrease first In a breathing emergency offering oxygen may be beneficial as long as there are not secretions in the airway Cr ey Invasive oxygen and carbon dioxide measurement Arterial bl
86. he environment Helps child to interact with others It s fun What role do the muscles play e Maintain a steady posture lying sitting standing e Steady and brace one part of the body while another part moves Bend or straighten a joint bend an elbow or turn your head e Overcome gravity e Overcome friction e Work against opposition to movement like tight clothes or tight joints e Stimulate bone growth through muscle pull on attachments to bone How can I help my child to move e Reduce the hindering effects of gravity friction and opposition to movement and offer physical support to help steady your child as they move By developing strength confidence and pleasure in moving in this way your child may gradually reguire less help e Supported in side lying reduces effect of gravity on arm movements Hand resting on a toy car or similar the wheels reduce the friction and make arm movement easier Moving on a slippery surface lino laminate and in slippery clothes reduces friction e Slippery finger paints friction free e Sliding hand up a chalky board is easier than lifting arm up unsupported Unrestricting clothing for easier movement e Water in a bowl hand play a bath spa pool lake held by caregiver Aquatic therapy hydrotherapy with a physical therapist e Swimming recreationally e Standing frame Horse riding simulator or hippotherapy Mass
87. he risk of anesthesia and respiratory problems are significant you may want to ask about other options Liquid food commercial formula or blenderized diet can be given through the tube directly into the stomach so that people with CM can safely get enough calories to grow and stay healthy Your dietician will be an important resource for gauging how much to feed the calorie content of meals the frequency of feeding bolus or continuous feed and what nutritional supplements will be needed A long term feeding solution is highly recommended in newborns with CM who are very weak See the Appendix for a complete list of feeding tube options along with some pros and cons of each feeding method Oral Stimulation It is important to maintain positive oral experiences for your child Children who are not allowed to eat by mouth or those that have negative experiences every time they eat may develop an oral aversion This is a powerful dislike and firm avoidance of food being in or around the mouth and can occur in babies and children that are tube fed Your speech language pathologist or feeding specialist can give you some ideas of what to do such as mouth play during tube feedings so that your child will accept food by mouth when ready A clinical psychologist may also be helpful Your therapist can also suggest ways to help strengthen and If your child needs a g tube you can create tube feeding meals made from a great variet
88. hould be discussed with your doctor prior to use RESPIRATORY MANAGEMENT 28 e Glycopyrolate a medication dosed at 20 100 micrograms per kg for each dose given every 6 8 hours e Scopolamine Transdermal Patch each patch is 1 5 mg and is changed every 2 3 days Some patients may benefit from a lower dose due to the potential for thicker secretions or mucus plugs e BOTOX can be injected into the salivary glands under ultrasound guidance to reduce the amount of saliva produced Salivary Gland Ligation surgery to close off some of the saliva glands The least invasive treatments for managing oral secretions should be tried first followed by surgical treatment Breathing Exercises Exercises to help the lungs fully inflate will improve development of the lungs and can increase muscle strength and function Things you can do without any equipment include breath stacking stretching and massage of the intercostal muscles and deep breath holding for several seconds Singing or blowing into a harmonica are fun activities for children that can exercise breathing muscles You can also use a mechanical cough assistance machine or ventilator as a therapy tool Development of the lungs in infants and young children is important Body movement and crying are a couple of ways that the respiratory system can get a workout naturally But when weakness is severe you may need to find creative ways of encouraging movement and use assisti
89. ical use of breathing support For example if you were previously using breathing support at night you would go back to that APPENDIX 70 Hi My name is have When I have a respiratory infection or pneumonia my weak cough makes it difficult to keep mucus from building up in my lungs I use a Cough Assist Device to help bring up the mucus My Cough Assist Settings Inspiratory Pressure ef Expiratory Pressure ee s If my oxygen saturations are less than 95 then need more frequent Cough Assist and possibly BIPAP IPAP 14 19 cm H20 EPAP 0 4 cm H20 or nasal mask non invasive ventilation assist controlled volume ventilation Using just oxygen to treat low oxygen saturations can mask elevating CO2 and cause CO2 retention and respiratory acidosis As a general rule oxygen should be avoided BIPAP and nasal mask non invasive ventilation can prevent the need for intubation tracheostomy and reverse hypoxemia and respiratory acidosis If you feel that intubation is needed please pass on the attached extubation protocol to the ICU doctors and respiratory therapists My Specialists APPENDIX 71 Recommendations for Post Operative Care and Extubation of Children and Adults with Neuromuscular Disease BEFORE EXTUBATION For INTUBATED patients g 4 hours airway clearance 1 Cough Assist 5 sets of 5 breaths Inspiratory Pressure 30 or 35 or 40 for 1 2 seconds Expiratory pressure 30 or
90. ilated because the settings on their breathing machine have been set too high it can reduce their CO2 levels by too much which may cause similar symptoms to sleep disordered breathing It is therefore important that you have regular sleep studies even if you already have overnight ventilation Ways to Assist Breathing There are two basic modes of assisting with breathing 1 Non invasive 2 Invasive Non Invasive Ventilation Breathing support that is non invasive provides air flow from a ventilator or breathing machine to the lungs using a e Mouth piece Nasal mask Nasal pillows Face mask e Helmet mask A ventilator is a simple device that acts like a pair of bellows to help you improve your breathing The ventilator delivers a gentle pressure which helps your lungs to expand There are a variety of methods that deliver either a certain pressure of air or a specific volume of air Some examples include Bi level positive airway pressure BPAP e Continuous positive airway pressure CPAP not appropriate for hypoventilation in CM Intermittent positive pressure ventilation IPPV Proportional assist ventilation PAV which provides flow and volume assistance with each breath Ventilator which delivers a breath with pressure or a set volume These devices are explained below Bi level positive airway pressure BPAP BPAP ventilators deliver air through a tube that connects onto a mask coveri
91. ile sometimes unavoidable leads to a change in population sample size which may affect the ability to provide answers to the study questions All these factors make participation so crucial This section will briefly describe some different types of research trials and study categories Natural History Studies this type of study gathers information on CM to better understand the natural course of the condition Patients are evaluated at the beginning and then will be asked to follow up to provide information on how the condition changes over time for the patient The evaluation may include gathering medical records having an exam done doing functional assessments etc Natural history studies are useful in preparation for future clinical trials when a treatment is being tested Without understanding the natural course of the condition first it is difficult to Know if the treatment being tested is the most likely contributor of an improvement in the condition Tissue Repositories these are places to store tissues from patients that can be used in research studies and are sometimes called biobanks The Congenital Muscle Disease Tissue Repository CMD TR is one such place and aims to centralize tissue to safegard it from loss and distribute specimens to researchers conducting studies Individuals and families can consent to have leftover muscle biopsy tissue Spare surgical tissue or autopsy tissue sent to the CMD TR Contact Stacy Co
92. ilestones The physical skills expected to be achieved by children Multidisciplinary team A team approach that utilizes the skills and experience of individuals from different disciplines with each discipline approaching the patient from their own perspective Most often this approach involves separate individual consultations Muscle biopsy A minor surgical procedure done under general or local anesthetic using a needle or a small incision to remove a small sample of muscle The procedure may be done to confirm a clinical diagnosis or rule out muscle disease Myometer An instrument for measuring the extent of a muscular contraction Myopathy Simply means muscle disease A myopathy is a muscular disease in which the muscle fibers do not function properly resulting in muscular weakness Nasogastric or NG tube A tube placed through the nasal passage to the stomach to provide nutrients or medication Nasopharynx The part of the pharynx behind and above the soft palate directly continuous with the nasal passages Negative inspiratory force Negative Inspiratory Force NIF is the greatest force that the chest muscles can exert to take in a breath The normal value is greater than 60 This number shows the doctor how strong your breathing muscles are Nemaline rods Abnormal accumulations of rod shaped structures within muscle cells when found a diagnosis of nemaline myopathy is usually made Neurologist and Neuromuscular doc
93. in with inspiratory pressures between 10 and 15 cm H2O and expiratory pressures of between 10 and 15 cm H20 to allow an introduction acclimation period to the device Verify initial pressures or any changes in pressure reguirements by occluding the circuit in a clean manner and cycling from inhale to exhale This should be done several times while viewing the pressure gauge Settings and modes Start with either the Manual Mode or Auto Mode For Manual Mode slide the manual toggle from inhale to exhale 4 6 times holding the inhale pressure for 2 3 seconds enough time to deliver a full deep breath then rapidly to exhale for 2 3 seconds For Auto Mode slide to the Auto Mode Set the inhale time to 2 3 seconds and the exhale time to 2 3 seconds Slowly adjust the pressures upward with subseguent treatments by 5 cm H20 each cycle of 4 6 breaths until optimal pressures are reached to clear secretions Typical inhale pressures may vary between 40 cm H20 to 70 cm H2O Optimal inhale pressure may vary from patient to patient depending on lung and chest wall compliance Optimal exhale pressure may vary between 40 cm H20 and 70 cm H20 Treatment length and process A standard treatment consists of applying 4 6 consecutive cough cycles of insufflation exsufflation Visible secretions should be removed via suction from mouth tracheostomy tube or tubing User should then rest for 20 60 seconds and return to normal mode of ventilation and
94. ing the skeletal system are freguently encountered in congenital myopathy CM and include the following Difficulty walking e Scoliosis e Hip joint out of place dislocation or subluxation Foot and ankle deformities such as clubfoot Joint tightness contractures including a severe form called arthrogryposis Weak or thin bones osteopenia or osteoporosis e Pain or discomfort Your orthopedic and rehabilitation specialists will play an important role in assessing these issues Many interventions are done ahead of time to prevent permanent limb changes deformity or respiratory complications in the future The goals of orthopedic and rehabilitation care are to e Keep you flexible and mobile e Improve strength where possible e Maintain the best posture for your situation Prevent or delay joint deformity e Keep your bones as strong as possible e Minimize pain and promote comfort e Provide devices to help you be more independent Although all subtypes of CM can include orthopedic complications the following three genes are related to them more often than not e RYR1 e SEPNI e MIMI How am I evaluated for orthopedic and rehabilitation needs The rehabilitation specialists which include a physical medicine and rehabilitation doctor occupational therapist physical therapist orthotist and wheelchair or other eguipment specialist will evaluate your joints spine sitting comfort mobility and you
95. ioning Finding a network of other people that have transitioned to oral feeds may provide you with much needed support There are online support groups you could join and you might want to check with your feeding team about a locally organized support group Only remove the tube after you demonstrate that she or he can eat and drink adeguate amounts to continue growth Make sure she or he does not lose excessive weight with illness or during the winter cold and virus season before removing the tube Sample Weaning Program from Tube to Oral Feedings e Discontinue all nighttime continuous drip feedings e Discontinue all continuous drip feedings by day Develop age appropriate mealtime schedule for daytime bolus tube feeds Transition from predigested formula containing enzymes such as Nutramigen Progestimil Vivenex onto standard stock formula Introduce oral stimulation and feeding small tastes just prior to tube feeding Start at the cheek nothing too scary Avoid the tongue which is sensitive to touch and may initiate gagging APPENDIX 79 Practice nasal breathing and active closing of the lips if possible Develop a system to reward progress in little steps For example with children use a special mealtime toy bag as a distraction and other enticements These toys are only played with during meal times and they must be engaging toys that the child loves Use positive activities and reinforcement lots
96. ions that can help you to feel more like yourself Ears nose and throat Many people with CM need monitoring of their ears and hearing ability because fluid can tend to remain trapped causing discomfort mild hearing loss and possible ear infections Some people with CM have enlarged tonsils and or adenoids that can cause airway obstruction so it is recommended to see an Ear Nose and Throat ENT specialist for an evaluation Heart Most CMs are not associated with abnormal electrical heart rhythms arrhythmias or abnormal heart contraction cardiomyopathy also known as heart failure Sometimes heart problems may be associated with some forms of CM this is rare It is more likely that heart problems occur because of severe lung problems The cardiologist will likely perform at least one heart evaluation consisting of an electrocardiogram ECG or EKG to measure the rhythm of the heart and a heart ultrasound echocardiogram Hospitalization You may need to be hospitalized suddenly for various reasons You should make sure your primary doctor and your regular specialists are aware of your hospitalization Reasons for hospitalization include 1 Severe breathing problems During acute illness such as having an infection you may need to be placed on a breathing machine ventilator 2 Heart problems You may need medications to help the heart beat harder or stop an abnormal heart rhythm 3 Feeding problems
97. ked great The night before the surgery he was sound asleep in less than nine minutes loaded these onto my phone for use in the hospital I had my own versions that I used in the ICU to help catch 20 minutes of relaxation enough to refresh me for more hours of caregiving Rally Your Support We identified key family and friends to help us during different phases of the surgery For example we had a family member who would bring us fresh healthy food every day to the hospital after work We kept two coolers in rotation to provide us as caregivers with healthy food and snacks our son was not eating by mouth after surgery Identify what will help caregivers remain strong both physically and mentally We also used a tool from the MDA to help caregivers called myMuscleTeam This free practical online tool provides a powerful way to harness the strength of your Muscle Team of family and friends Easy to use the care coordination site offers several features that are valuable to you and the people who care about you You can create private secure myMuscleTeam Web pages post journal entries to keep friends and family members updated and enter items into a care coordination calendar that enables you and or your primary caregiver to seek help in areas where assistance is needed including transportation to medical appointments meal preparation household chores and more Visit http mda org services finding support
98. kes it much harder to move around be transferred and puts additional stress on the body and organs Maintaining an ideal weight is important and your doctor can help you to know what that is for you Signs of Feeding Problems e Low appetite and food intake e Chewing incoordination or taking a long time to chew e Coughing choking gagging gasping or difficulty Image credit http wwwarkthera peutic com post 1266 breathing during meal times e Excessive secretions pooling drooling or problems 40 coordinating the muscles A raspy sound to the voice or to breathing after swallowing or after the meal Unable to clear the mouth of food and drink after the swallow Food or drink lingering in the throat e Making throat clearing attempts and noises during meals e Nasal or respiratory congestion increased work of breathing fatigue Long meal times such as much longer than 30 minutes Anxiety in anticipation of meals or discomfort during meals Excessive spitting up or reflux e Vomiting or appearing to be in pain during or after eating a person may complain of chest or abdominal pain after eating e Delayed advancement to new food textures Difficulty advancing to use of age appropriate meal utensils Decreased growth or weight Lung infections Feeding Swallowing Evaluation A speech language pathologist who specializes in feeding and swallowing can evaluate swallowing ability if you have concerns bu
99. king about your disability so that you can explain it in the most positive light out in the community Start with conversations about what would be her his dream job and then make it realistic based on abilities and budding skill sets If she he wants to be a professional swimmer but that is not feasible ask what she likes about it and find skill sets that mesh with a job goal of professional swimmer Use the IEP as a planning tool for her future plans taking the right courses getting experiences that will help pave the way networking through school relationships to meet the right people Join community groups volunteer and get to know people of influence Who you know will get you more opportunities than anything else Exploration period find out what you are good at and where that overlaps with what you like to do Family involvement and support in the process is critical maintain high expectations for youths while keeping it realistic Work on skills at home phone skills social situations budgeting organizing a shopping list managing a household etc Volunteer at the place you want to have a paid job and you ll have your foot in the door while waiting for an internship opportunity or career Job site accommodations can be simple instead of lowering a water fountain just install a cup dispenser next to it at a low height If you will need job accommodations state those up front at the interview Sharing your di
100. l and regional differences for when scoliosis surgery may be recommended lt is important to do regular stretching and massage of tight contracted spinal muscles along with strengthening over stretched muscles oming to Terms with My Scoliosis As a teenager I was told by my doctor that I have scoliosis This news combined with my muscle disorder was quite a blow to me I felt defeated because I thought I had failed to keep my core strong enough I feared that my body would become so distorted by the curving of my spine that other people would shrink away from me My future seemed to have turned bleak in a flash I felt alone and depressed I had to get fitted for a Boston brace which is a type of rigid brace The measuring process took half the day and I needed to wear a body stocking It took about two months for them to make my brace and then I had to go back for half a day to get it fitted There are a lot of different styles of braces but mine is tan colored and opens in the back There are locking straps that hold it very tightly onto my body which can make it hard to breathe sometimes I have to remove the brace in order to drink eat use the bathroom or walk very far I try to wear my brace during sedentary activities such as whenever I am sitting at my computer watching a movie or reading a book I try to stay active so I do not wear my brace if I am engaging in movement The rigidity of the brace makes it too hard
101. l unit of all organisms Usually material enclosed by a semipermeable membrane Central nuclei Different from anormal muscle cell where nuclei are present along the outside of the cell central nuclei are present within the muscle cell directly in the center Chronic Something that is constant lasting or long term Clinical trial A type of clinical research that follows a pre defined plan or protocol By taking part in clinical trials participants can play a more active role in their own health care access new treatments and help others by contributing to medical research CO2 Called carbon dioxide this is the compound we exhale It is a naturally occurring chemical in the air given off by plants Colon The last part of the digestive system that extracts water and salt from solid wastes before they are eliminated from the body Commercial formula A combination of foods and liquids that have been thinned in a blender or food processor and strainer in a manufacturing plant These foods and liquids can be eaten using a cup straw syringe tube or spoon Congenital Present at birth Continuous feed Nutritional formula that slowly drips through the feeding tube over several hours Contractures A permanent shortening of a muscle or joint that results in a decreased range of motion Core The trunk or torso The central part of the body from which extend the neck and limbs Cornea The transparent front part of the eye
102. ldren under 2 years of age who are considered high risk for RSV infections Although the protective drug cannot prevent RSV it can reduce the severity of symptoms Check with your health insurance company before starting this monthly treatment because some will not cover the high cost Five monthly shots during RSV season which typically lasts from November through April are reguired for protection If your child is over the age of two and you would like more information about the efficacy of RSV protection please consult your doctor Cough Assistance We cough in order to expel mucus from the lungs which helps prevent infections When there is considerable weakness in the neck rib muscles diaphragm and abdomen coughing ability is impaired as often occurs in people with CM There are two approaches to cough assistance manual and mechanical Manual cough assistance involves a caregiver applying firm and rapid pressure to the upper abdomen and diaphragm manually assisting in forcing air out of the lungs This can also be done manually to yourself by folding your arms under your ribcage leaning forward and coughing A device called a manual resuscitator trade name Ambu bag can be used along with breath stacking to increase lung air volumes before manual chest and abdomen compression as the person with CM exhales A respiratory therapist or other experienced health care professional can provide training on this maneuver
103. lk about the challenges at hand openly to someone helps me a great deal I notice a great relief when I have voiced whatever is heavy on my heart or mind It s like peace has settled in not expecting someone will have all the answers but an open ear means the world to me It s what has gotten me this far 3 An Honest Account of the Struggles I hate going out in public on my own and I avoid it at all costs I suffer with anxiety and panic attacks in public due to the sheer volume of strangers who COPING WITH A DIAGNOSIS OFCM 62 On Mental Health and Wellness A collection of statements from parents and people whose lives are f nd my disability so hilarious they just can t help staring or making fun I have depression as well I rarely think about my disability until others point it out Knowing soon I won t be able to pick up my own son and struggling to do things with him is very upsetting Not working is infuriating and now I worry about receiving health care coverage Life is tough but I still love my life I like being different but sometimes it really grinds me down 4 The Pressures a Mom Feels Sometimes I feel like I am going to drown under the stress I feel But I suck it up and put on a happy face for my family I worry about my child ALL the time Is she healthy enough is she happy what more can I do to make her life easier am I a good enough mum am I doing a good job home schooling am I paying
104. lly they should have experience treating people with CM Swallowing and Nutrition The best way to monitor your nutritional status is to measure height and weight at every clinic visit for children and adults and at least every three months in infants A person that is unable to stand or has scoliosis can have a measurement of the forearm ulna length used instead of height You can track growth trends in children height weight using a chart called a growth curve on which measurements of each height weight are plotted on a graph This allows you and your doctor to see trends over time Ask your doctor to provide a graph for you Children with CM often have growth curves that are below what one expects for age in unaffected children however all children are expected to maintain their own growth curve Don t worry as long as your child can maintain his her level of growth and not fall off the curve is not sick frequently and is not having recurrent lung or heart problems Weight percentiles for a child that fall below past patterns would be an indicator that they are not getting enough calories Infants who are not gaining enough weight are considered undernourished and sometimes said to have failure to thrive They are usually referred for special care to get their weight up Sometimes people with CM put on too much weight because they are consuming more calories than needed for their activity levels The extra weight ma
105. longer life Breathing problems are sometimes more predictable with some types of CM but of course everyone is unigue Right Main Stem Bronchus Trachea Right Lobes Bronchioles Left Main N Stem Bronchus Bronchi Pleural Flute Diaphragm Alveoli Image credit http www interactive biology com 3331 how do we breathe lungs and pleura The diaphragm muscle muscles between the ribs intercostal and abdominal muscles are all used for breathing The breathing muscles allow you to inhale oxygen Q2 and exhale carbon dioxide CO2 These muscles are often weakened in CM With weakened muscles a person is not able to take in as much air breath volume There are some problems that result from this First a child s lungs may not grow and develop properly when there is not enough air going into all parts of the lungs Second decreasing breath volumes can cause a build up of carbon dioxide If carbon dioxide builds up in the body it can lead to changes in blood pH acidosis This build up of carbon dioxide is more likely to happen initially at night because we naturally breathe less deeply when sleeping Third coughing ability is reduced Coughing is important to clear the airway and prevent pneumonia as well as recover from lower respiratory infections Breathing issues can be treated by providing a person with breathing support devices which can take over the effort of breathing to increase
106. lood and sputum cultures and other blood work Respiratory treatments Help with breathing such as BPAP ventilator Cough assistance devices Antibiotics if a bacterial pneumonia is suspected During illness the ability to cough and clear mucus worsens Without the ability to cough well mucus and other particles stay in the lungs and create a breeding ground for bacteria and viruses Breathing problems or a mucus plug can sometimes guickly lead to collapse of part of the lung atelectasis It is important to do airway clearance every four to five hours to keep the lungs clear and oxygen saturations at 9590 or higher It is also important to allow your child to rest repositioning them regularly Increase their fluid intake if possible and increase calories as tolerated Aspiration Pneumonia Aspiration is when something other than air goes into the lungs Aspiration pneumonia is a lung infection often caused by aspiration of mucus saliva food particles liguids or stomach contents reflux or vomit Symptoms of aspiration could include gagging attempts at coughing hoarseness soreness or burning in the throat wheezing chest rattle and shortness of breath or a halt in breathing Aspiration also can be silent with no obvious symptoms Some parents have reported their children s skin looking ashen or bluish in color with the eyes rolling back during an episode of aspiration If you suspect aspiration is a problem immediatel
107. ls Social service or disability service centers Muscular dystrophy clinic Pharmacies Cough Assist Mechanical In Exsufflator Phillips Respironics 9 healthcare philips com main homehealth respiratory_ care coughassist defaultwpd Patient Guide to the Cough Assist 0 curecmd org wp content uploads resources cough assist guide pdf MedicAlert Foundation Please consider using a medical alert identification These are often worn as a bracelet or necklace and can alert first responders of critical medical issues in a medical emergency www medicalert org RESOURCES FOR FAMILIES 91 Non Traditional Physical Therapy Hippotherapy Movement therapy on horseback americanhippotherapyassociation org Alter G Anti Gravity Treadmill Safer way to gain or regain walking ability in later childhood or adulthood alterg com M UM Fi i Ai A WK I 1 N i Li Tube Feeding Resources foodfortubies com Dedicated to sharing information and support for using blended food facebook com foodfortubies A not for profit group that shares information on blended diets for tube fed persons feedingtubeawareness com General awareness and information sharing especially for parents of tubie kids mealtimeconnections com Brings together a group of professionals who have an understanding of complicated feeding concerns Many resources and products available for purchase including the Homemade Blended Formula Handbook
108. luoroscopic swallow study should be performed whenever swallowing problems are suspected This test uses different types of food mixed with barium A series of video X rays are done as you swallow Barium is not harmful and will allow your speech feeding clinician to see the food as it travels from the mouth into the stomach Your specialist should be able to identify any problems with strength coordination and efficiency The test will also show if other problems are occurring such as food getting stuck or going the wrong way For example sometimes food can be pulled into nasal passages or into the windpipe trachea If any swallowing problems are seen on the video of your swallow your specialist will help you decide the next step perhaps suggesting special feeding techniques or using different types of foods Some children and adults will need alternative methods of feeding and some may need therapy to help improve swallowing ability over time Chest X ray A chest X ray may be done for evidence of Image credit http www refluxrebels com aspiration pneumonia Acid_reflux Acid_reflux_tests html Improving Feeding and Growth Learning what is most suitable for your feeding needs understanding the technigues involved in safe eating feeding and keeping track of growth and weight over time are important to staying well nourished For ideas on how to increase your calorie intake please see the Appendix Common
109. m e 25 chance each pregnancy will result in a child who does not carry the gene change and does not have CM This unaffected child does not carry the gene change so he she cannot pass it on to his her future children For the individual with CM Understanding Genetics The risk to future children depends on the carrier status of Visit www genetics edu au and your partner click on Fact Sheets to learn more If your partner about patterns of inheritance has CM and has changes in the including Autosomal Recessive and Autosomal Dominant same gene 2 100 chance to have a child with CM lf your partner is a carrier for CM and carries a change in the same gene 2 50 chance each pregnancy will result in a child with CM 0 50 chance each pregnancy will result in a child who is a carrier just like your partner If your partner does not have CM and does not carry a gene change 2 100 chance to have a child who is a carrier X linked Inheritance Males have one X chromosome and one Y chromosome Females have two X chromosomes When a gene change occurs on the X chromosome males having only one X chromosome typically develop symptoms whereas females have two X chromosomes so they usually do not develop symptoms and are called carriers Sometimes female carriers do have symptoms of the disease but this does not occur often Recurrence Risks For the parents of a child with CM If the mother i
110. mb or overwhelmed by the news and the amount of information presented to you You may be asking the guestion Why Most people who are newly diagnosed with CM wonder what the future holds for them and their family Your doctors and this Family Guide can help you see how the condition might affect your life Due to the rarity of CM your condition may be unfamiliar to the majority of medical care providers you will encounter and the guality of care delivered often varies from one hospital or clinic to another Therefore understanding the disorder and its effects on the body will guide you in caring for yourself and help you advocate for better care The congenital myopathies are a group of rare muscle disorders The term congenital means born with but sometimes the symptoms are not immediately obvious at birth New symptoms may also develop later in life Myo means muscle The suffix pathy means a medical condition Therefore myopathy is a medical condition involving muscles It typically results in muscle weakness and muscle fatigue Common symptoms and signs that occur in CM include 1 weakness 2 low muscle tone or floppiness hypotonia 3 joint tightness contractures 4 breathing problems 5 feeding difficulties 6 bone abnormalities such as curvature of the spine scoliosis 7 delayed growth and motor achievements milestones such as rolling over sitting or walking Knowing the signs a
111. mfortable sitting position in a chair upright posture and mobility e Daily stretching of knees by family member or yourself by lying down with legs stretched out e Stretch out hips by lying on stomach if possible e Wearing AFOs as described above e Standing in place with a stander or other device e Progressive splinting e Serial casting Shoulder elbow wrists and hand To help maintain hand and upper body function and independence Stretch all joints in upper body several times a day Wrist hand and elbow splints given by occupational therapy Potential Benefits of Exercise in CM Improves circulation Preserves flexibility and range of motion Maintains or improves physical function Improves respiratory efficiency Upholds overall fitness Sustains or improves bone density Retains or increases strength Helps relieve stress and tension Improves mood Results in better sleep 1 2 3 4 5 6 de 8 J 1 1 Reduces risk of developing other conditions like diabetes Spine To minimize scoliosis consider Stretches and exercises that use back muscles e Torso trunk bracing in the sitting or standing positions or both Rehabilitation specialists often use Botulinum toxin Botox to help treat muscle tightness such as in cases of cerebral palsy However Botox is not advised for use in the muscle of people with CM because it may worsen the weakness already present Botox has been successfully used
112. molars hold the retainer up in the correct position The tail of the retainer holds up the soft palate to improve hypernasal speech There is a balance to be achieved so that over correction does not occur which would make m and n sounds distorted like when you have a stuffed up nose A good prosthedontist and speech pathologist can help with ensuring How a Palatal Lift Appliance Works Written by Parent of a Child with CM the correction is satisfactory It is recommended to start early with its use be consistent and well disciplined and have a gualified speech therapist involved You can enlist a team it may be termed the craniofacial team or cleft palate team which is made up of a host of specialists pediatric dentist orthodontist prosthedontist oral surgeon speech therapist ENT feeding specialists to develop a treatment plan Not all major hospital systems do this well so ask around and get second or third opinions when needed The unresponsive soft palate creates a similar oral environment to that of a child with a cleft palate Because cleft palates are relatively common in the general population look for resources and specialists from this area of expertise as they may be helpful to your child with CM that has hypernasal speech mouth to hold up your soft palate and improve your speech It is best to begin working with a prosthedontist early i e before entering school if speech is possi
113. mymuscle team to learn more Look into what kind of housing is available at or near the surgical hospital Our acute care hospital had converted a wing into hotel like rooms for caregivers That way one of us could sleep while one of us stayed with our son It was much better than commuting Another option is to see if there is a Ronald McDonald house where you might be able to stay This was key to having a place to take a break and rest Knowing What to Expect Pre Surgical Consult You can arrange a pre surgical consult with your doctor or nurse practitioner to review important health factors what to expect and possible surgery risks We did a one hour phone conference 30 days before surgery but each doctor may do it differently One thing the doctor told us was that we should expect our child s face and body to be extremely swollen after surgery That was extremely helpful to know because his face just did not look the same Knowing this in advance helped to reduce anxiety about his appearance Tour Our hospital offered tours prior to surgery for both child and parents so we would know what to expect There were also videos on the hospital website designed for different age groups Talk with others who have been through it l spoke with five other families whose child had been through a spine surgery It was extremely helpful to get tips and suggestions from others Any hospitalizations can be stressful for families es
114. n therefore it was guite challenging I made some very silly puppets only for mealtimes that loved to eat The puppets were her favorite part and proved pivotal to my program s success They could get her to eat foods and guantities that no one else could She was encouraged to eat as much as she wanted at each session I tried to only change onething at a time like texture utensil or type of food so as to not overwhelm Distractions were effective in keeping her cooperative and in her chair for longer periods as she progressed A 30 minute episode of a cute television show for example allowed me to get more bites of food in without her being bored fidgety or resistant After Mealtime I supplemented her oral calories with high calorie formula and other blenderized foods through her g tube I wanted her GI system to be accustomed to a variety of foods and liguids I found it important to keep slowly stretching the stomach to promote its capacity without lt 6 lta Continued la byg EE Ma overdoing it of course which could cause reflux A direct subtraction of calories from tube feedings at each oral feeding was done kept in mind limit calories gradually while keeping fluids high and the stomach stretched to ensure hunger by the next meal This was achieved by gradually diluting tube feedings with water In Summary Your child should be at a good solid weight before starting a program like this
115. n Any action on your part in response to the information provided in this booklet is at your own discretion About the Core Writing Team Chamindra Konersman MD Dr Konersman is a neuromuscular physician and assistant professor at the University of California in San Diego CA She studied at Drexel University College of Medicine with a residency at UCLA Adult Neurology and a fellowship in pediatric i and adult neuromuscular medicine Her research interests are in congenital myopathies Duchenne and Becker muscular dystrophy and Charcot Marie Tooth disease Stacy Cossette MS Having coordinated research for the Medical College of Wisconsin since 2003 Stacy is currently the CMD Tissue Repository CMD TR manager there She is a Cure CMD Research Associate who serves as a CMD International Registry CMDIR Curator Stacy is also a parent of a teenage daughter with congenital myopathy Sarah Foye BS Sarah is a Congenital Muscle Disease International Registry CMDIR governing board member and Joshua Frase Foundation advisory board member The parent of a son with congenital myopathy she is also an occupational therapist Kim Amburgey MS CGC Kim is a genetic counselor in the pediatric neuromuscular clinic at the Hospital for Sick Children in Toronto Canada She is a clinical research study coordinator for studies on RYR1 related myopathies centronuclear myopathies and myotubular myopathy In addition
116. n the prevention or correction of injuries or disorders of the skeletal system and associated muscles joints and ligaments Orthotist A specialist in the making and fitting of orthotic devices such as braces to treat spinal curvature Osteopenia Reduced bone mass of lesser severity than osteoporosis Osteoporosis Medical condition in which the bones become brittle and fragile Palatal lift appliance A prosthetic device designed to fit against the hard palate anchored by the teeth with an extension along the soft palate to occlude part of the velopharyngeal opening The device is used mainly by people with weak velopharyngeal musculature or excessively wide velopharyngeal openings to reduce nasal resonance and airflow during speech Pectus Excavatum An abnormal formation of the rib cage that gives the chest a caved in or sunken appearance Pharyngeal flap procedure A surgical procedure to help correct or improve the quality of soeech when hypernasality is GLOSSARY 98 a problem Physical therapist A specialist who has a Master s or higher degree with expertise in helping people make physical changes to improve movement in the body This includes proactive measures to help prevent the loss of movement through stretching or bracing Placebo group A group that is given a placebo in a research study A placebo is something that does not directly affect the behavior or symptoms under study A researcher must be able t
117. nappropriate weight loss This term is no longer in frequent use Forced vital capacity FVC Refers to the maximum amount of air someone can blow out after taking the biggest breath possible The FVC can help measure if there is a problem with lung function such as respiratory muscle weakness or if an infection is present Gastroesophageal reflux disease GERD A condition in which the stomach contents food or liquid leak backwards from the stomach into the esophagus the tube from the mouth to the stomach This action can irritate the esophagus causing heartburn and other symptoms Gastroenterologist A doctor who specializes in the digestive system and its disorders Gastrostomy or G tube A type of feeding tube that is surgically inserted through the skin and directly into the stomach Some specific types of G tubes are PEG tubes Mic Key buttons and Bard buttons Gene A basic unit of heredity made up of DNA Genes are GLOSSARY 96 the blueprints or directions for how everything in your body is made We inherit genes from our biological parents Gene Genetic mutation A change in the DNA sequence of an organism s genome that can alter something in the body or how it functions Genetic counselor A health care provider who has a Master s degree with education and training in medical genetics and counseling A genetic counselor can help explain which genetic mutation is causing your symptoms and may be able to help wi
118. nd caregivers to understand the condition of congenital myopathy and optimize the care for people who are affected by this condition Every effort has been made to use common language to make this document easy to read In this booklet the term you generally applies to the reader who may be a caregiver or an affected person This guide provides an overview of congenital myopathy CM and how specific body systems are affected by CM It details medical care needed for those with CM including care from childhood and into adulthood The medical terms underlined in this guide are defined in the Glossary Check the Table of Contents to find specific chapters within this guide as well as the Appendix Resources for Families section and Glossary of medical terms You may find it helpful to share this guide with health care providers a spouse your partner school staff other CM families and other care providers Your doctor may be able to help explain some of the points made in this guide if you have guestions DISCLAIMER The information and advice published or made available in this booklet is not intended to replace the services of a physician nor does it constitute a physician patient relationship This advice should be taken in conjunction with medical advice from your medical care providers whom you should consult in all matters relating to your health in particular with respect to symptoms that may reguire diagnosis or medical attentio
119. nd symptoms of CM can help you notice problems early on so that you can bring them to your doctor s attention More often than not these problems can be helped What causes a congenital myopathy You may have felt worried that you somehow caused this congenital myopathy to occur but know that you did not Congenital myopathy cannot occur as a result of something you do and you cannot catch it from someone else Congenital myopathy is caused by changes in genes that were passed through We tend to assume that the tions Each cell MU BE ERE GE medical staff will always know within the human body i Sk what is best I think if we enter contains many genes every situation realizing that that work together to HE mo Acienaine howe each of us has useful knowledge body is built DNA is the material that makes up and experience with CM it helps to remind us that we our genes Changes in parents and those affected can the DNA within the gene can lead to a difference contribute in helpful ways and even educate others We are all on the same team a mother of a child with CM in how the body grows and functions CM is caused by a change in the DNA called a genetic mutation or variant These changes are what cause the muscles to be incorrectly built or not work properly leading to the disorder s symptoms Genetic mutations can be passed down from parent to child inherited although they can show up spo
120. nderstand these changes think of chromosomes as chapters in a book then genes would be sentences in the chapter DNA is like the letters that make up the words in the chapter Gene changes or mutations would be errors in the words There are four main types of gene changes 1 Missense Mutation This occurs when a letter or word is changed Example THE SKY IS BLUE gt THE SKY IS BBUE or THE SKY IS CAR 2 Nonsense Mutation This occurs when the instructions stop too soon Example THE SKY IS BLUE gt THE SKY 3 Insertion This occurs when a letter or word is added Example THE SKY IS BLUE gt THE SKKY IS BLUE or THE SKY SKY IS BLUE 4 Deletion This occurs when a letter or word is missing Example THE SKY IS BLUE gt THE SY IS BLUE or THE IS BLUE Gene changes affect the way a protein is made In CM the protein that is affected is involved in helping the muscles work properly If the protein is not made correctly this will result in symptoms such as muscle weakness You can find some Inheritance Patterns genetic terms defined at Gene changes can be inherited the end of this chapter from a family member s or may and in the Glossary be spontaneous meaning it is a new mutation that did not exist in either parent Below are the common inheritance patterns and recurrence risks risks to future pregnancies Autosomal Dominant Inheritance Autosomal means that both males and female exhibit symptoms of CM Dominan
121. ng the nose only or covering both the nose and mouth It assists by pushing air into and allowing air out of the lungs The mask can easily be removed when the breathing machine is not in use RESPIRATORY MANAGEMENT 22 Non invasive means it does not penetrate the body Invasive means requiring a surgical procedure or device that penetrates the body eee eee eee eee eee eee eee eee eee eee eee eee eee eee eee ee eee eee ee BPAP helps correct low oxygen levels and high carbon dioxide levels and gives breathing muscles some rest BPAP can be used during night time sleep naps when sick off and on throughout the day or all day depending on your needs The BPAP is the most common treatment for poor ventilation in CM It can help keep the lungs in good health and the rib cage flexible It can also help to improve quality of life such as increased energy levels better concentration and can often prevent breathing problems such as chest infections Note BiPAP is the name of a portable ventilator manufactured by Respironics Corporation it is just one of several ventilators that can deliver BPAP Your respiratory care specialist will determine the appropriate settings for the machine in order to properly ventilate the user Continuous positive airway pressure CPAP CPAP is a treatment that uses continuous air pressure to keep the back of the throat open It is not appropriate for people
122. ngy parts stalks or tough outer hull like corn Fruit nectar juice to drink Snack e Mashed banana e Diced watermelon no peel seeds e Tapioca or rice pudding Dinner Supper e Very finely chopped minced moist tender red meat or poultry no fat gristle bones or cartilage chunks e Mashed potatoes thinned and moistened with milk sour cream butter or smooth gravy e Mashed squash with butter or ground nuts for added fat e Vegetable fruit juice medley to drink purchase or make Snack e Creamy cereal with cornstarch mixed in helps lessen overnight fasting concerns Granola soaked in whole milk or soy milk to completely soften e Commercial formula to boost calorie and nutrient intake as needed Gastrointestinal Motility and GERD Constipation gastroesophageal reflux disease GERD and freguent vomiting are common Gl issues in CM There are treatments available that are usually effective Chronic Constipation Chronic constipation and difficulty having bowel movements in CM can lead to a poor appetite because you have a full feeling in your abdomen This will eventually lead to unintentional weight loss Additionally intestines that are full can make it more difficult for the diaphragm to move during inhalation which may lead to smaller lung volumes and breathing issues Slow stomach emptying and constipation are common in CM mostly because of less overall mov
123. no acids Proteins can be 1 functional like an enzyme that is responsible for almost every chemical process in the body 2 structural like hair muscle collagen organs etc or 3 antibodies Psychologist A doctor who specializes in diagnosing and treating problems related to thoughts emotions and behaviors Ptosis Ptosis is the drooping of the upper eyelid Pulmonary Relating to the lungs and respiratory system Pulmonary Function Test PFT A group of tests that measure how well the lungs work to take in and release air and how well they move oxygen into the bloodstream Pulmonologist A doctor who specializes in problems of the lungs such as breathing issues or infection Pulmonologists should work proactively with patients and their family to prevent complications from neuromuscular diseases Pulse oximeter A medical device that indirectly monitors the oxygen saturation of a patient s blood through a thin part of the patient s body such as fingertip or earlobe Pulse oximetry A non invasive method allowing the monitoring of the oxygen saturation of a patient s blood Range of motion stretching A term commonly used to refer to the movement of a joint from full flexion to full extension Reseacher Someone who conducts research as in an organized and systematic investigation Scientists are often described as researchers Registry Registries are a useful way to count and identify people with a specific health c
124. nships with other people who have been there Even if they don t share the same diagnosis you re dealing with many of the feelings they have experienced are the same Online groups for your diagnosis as well as local support groups for people with disabilities and families can be invaluable resources The remaining portion of this chapter includes a collection of personal stories and interviews of parents and people living with congenital myopathies They have shared their thoughts and feelings in hopes that you and your family can find some encouragement and ideas as you move forward in your own journey 61 affected by CM er 1 Facing Multiple Stressors I feel that for new parents struggling with their child s myopathy and the many complications that arise it is difficult to stay afloat emotionally First of all it s physically exhausting to care for kids on a vent the daily respiratory interventions take time as do the tube feeds Even in the hospital parents can t relax because they can t always trust the care The myopathy is a grieving process some people can handle this independently but others benefit from more help I m glad there are coping groups that parents can attend if they choose to do so Mental wellness means being able to enjoy your daily life no matter what being able to cope effectively with multiple stressors 2 Finding Peace Through Talking Openly Being able to ta
125. ntaneously in a eceeoeeceeeeoeoeoeoeoeoeeoeeoeeoeeoseeoeoo eeeooeoeoooooo oeooDMooDlll lO family with no history of muscle disease Geneticists can help find the exact nature or type of mutation you have A geneticist or genetic counselor can review the chance of the condition happening again within your family More information on genetics will be discussed later in this Family Guide What are congenital myopathy subtypes There are many different types of CM Doctors group CM into different categories called subtypes Subtypes are named in two ways 1 By microscopic appearance of the muscle cells such as cores nemaline rods or central nuclei being seen 2 By genetic mutation Doctors identify CM by observing the typical symptoms and by studying a piece of muscle tissue from the affected person To view the muscle a tiny piece of it is taken during surgery muscle biopsy The muscle sample is examined using a special process and microscope Another way to How is congenital myopathy determine your different from dystrophy In subtype is through which can sometimes dystrophy muscle cells are being broken down In non dystrophic myopathy muscle cells are not be done without a contracting properly muscle biopsy when I need SER carain genes are suspected as being the cause Using saliva blood or a tissue sample from the affected person a genetic testing laboratory can search for a genetic difference th
126. nto the stomach like a GJ is done J Tube Pros See GJ Tube Pros J Tube Cons e J tubes without G ports cannot be vented so if there is build up of gas in the stomach it cannot be released e J tube sites can have more problems with leakage than g tube sites TPN Total Parenteral Nutrition caregiver is trained In rare cases when children are unable to tolerate tube feeding into their stomachs or intestines or when they are unable to absorb nutriets from the Gl tract sufficiently TPN is used TPN involves the placement of a central line and nutrition is fed intravenously directly into the bloodstream In some cases it is used temporarily until a child is able to tube feed again In other cases TPN becomes the main nutritional support TPN can be administered at home once a parent or APPENDIX 82 APPENDIX 83 Research in Congenital Myopathy Congenital myopathy research is happening across the globe with collaborations among doctors families and scientists to understand treat and hopefully cure this group of diseases Since CM is rare and some specific forms even rarer participation of each and every eligible candidate is critical Also the more people who participate the more meaningful the research can be Smaller numbers of participants make it harder to prove if something works It can be challenging for researchers to enroll the number of participants reguired for a given study Dropping out of a study wh
127. o be adjusted as your needs change Following a medical appointment ask for a report called an After Visit Summary This visit summary should include information like height and weight vital capacity or degree of spinal curvature if you are monitored for scoliosis You can use the information from your After Visit Summary to judge how well your care plan is meeting your needs and if changes are warranted 5 Support groups and other resources lt will be helpful to receive information about family support groups online and in person and educational resources like this guide Meeting and sharing your experiences with other families can be comforting and makes you realize you are not alone For a list of family resources see the Appendix 6 Research opportunities There are opportunities to participate in research studies to expand understanding of your subtype and advance treatment discovery You can find a list of some places to learn more about research studies for congenital muscle disease in the Appendix Outpatient Clinic Visits You will be scheduled for follow ups with specialists at regular intervals likely varying from 3 6 months during the early years of your CM or when symptoms may reguire closer monitoring During each visit a nurse will measure blood pressure heart rate breathing rate weight height and head size during infancy A measure of the length of the bone in the forearm ulnar can be used inst
128. o movement of the muscles of inhalation and the volume of the lungs initially remains unchanged Arrhythmia Any change or disturbance regarding heart beat Arthrogryposis The permanent fixation of a joint present at birth in a contracted position Atrophy The wasting away or degeneration of a body tissue or an organ Augmentative or alternative communication devices AAC Includes all forms of communication other than oral GLOSSARY 94 speech that are used to express thoughts needs wants and ideas Autosomal dominant Autosomal dominant means you need only one mutation variant to have the disease Autosomal dominant diseases usually have an affected parent because the parent only carries one mutated copy of the gene which then gets passed to the child who has the disease More often in families with a child with CM the variant will be a de novo mutation meaning it has occurred spontaneously in the child but is not in either parent Autosomal recessive Both parents contribute a mutation variant in the same gene to their child The child must have both mutations to have CM The parents are both carriers and are usually unaffected The child may inherit a different mutation from each parent in the same gene heterozygous If the child inherits the same variant from both parents it is called homozygous Blood gas measurement A blood test that is performed using blood from an artery to measure carbon dioxide content in
129. o not develop a vision problem like double vision because the brain is able to adapt over time Weakness of the eyelid muscle can cause the lid to droop or appear partially closed ptosis Sometimes it will hang down low enough to cover the pupil and this can block vision in that eye Surgical correction of a droopy eyelid can be an option to improve vision In some people the eyelid may not close all the way during sleep When this happens there is a risk of scratching the clear outer layer of the eye known as the cornea A scratched cornea is painful and can impair your vision Eye lubrication with a gel while sleeping can help prevent scratching and dryness of the eye Weakness of the eye muscles can make it difficult to look in various directions without moving the head ophthalmoplegia If some eye muscles are weaker than others the eye may not appear to look straight ahead when the person is looking forward Unfortunately this condition cannot be corrected In rare cases some people with x linked myotubular myopathy and female carriers of the disease have developed cataracts It is something that patients need to be aware of and screened for as a precaution Weakness of Heart Muscle Heart problems are not common in CM however they can occur in some cases either due to a primary heart problem or due to underlying breathing issues If the muscle disorder affects the heart which is a smooth muscle it is known as
130. o separate placebo effects from the actual effects of the intervention being studied For example in a drug study subjects in the experimental and placebo groups may receive identical looking medication but those in the experimental group are receiving the medicine while those in the placebo group are receiving a sugar pill Pneumonia An infection of the lungs that is caused by bacteria viruses fungi or parasites It is characterized primarily by inflammation of the alveoli in the lungs or by alveoli that are filled with fluid alveoli are microscopic sacs in the lungs that absorb oxygen Power of attorney for health care A document that names your health care proxy Your proxy is someone you trust to make health decisions for you if you are unable to do so Primary diagnosis The main diagnosis given to a patient Prognosis How the disorder is expected to change over time and what those changes mean for your child s health and life Prosthedontist A doctor that specializes in making dental prosthetics Maxillofacial Prosthetics is a subspecialty of Prosthodontics that involves rehabilitation of patients with defects or disabilities that were present at birth or developed due to disease or trauma Prostheses are often needed to replace missing areas of bone or tissue and restore oral functions such as swallowing speech and chewing Protein A class of organic compounds that consist of large molecules composed of long chains of ami
131. o start the process early Mobility Scooters Can be used by children and adults who reguire less seating support and have use of their arms and hands to safely operate the drive mechanism and steering Points to consider e Can be ordered with smaller seats and lap belts e Locking swivel seat and adjustable armrests make getting in and out easier e Simple to operate Most include a basket in front for belongings and ORTHOPEDICS amp REHABILITATION 38 accessory storage in back for the power cord e Includes adjustable tiller and handle bar steering that requires the user to hold the accelerator with one finger during driving Easily adjust your speed on a dial e Can be transported in the trunk of a car or can be driven into a ramped vehicle A good option for those who need mobility assistance sometimes and for getting around outside the home your community malls zoos museums etc Less adaptable for those with special seating needs such as significant arm weakness or pelvic rotation and back support needs e Sitting up without the ability to recline during scooter use can be fatiguing for some people with CM Has a platform foot rest but no elevating leg rests or head supports Adapted Vehicles Once you are of driving age driver educational programs and modifications to your vehicle may be necessary Environmental Modifications E Mods Changes to your home work place or school coul
132. of praise and a socially engaging approach during meal times Modify only one variable for oral feeding at a time such as texture temperature or utensil used if you are easily overwhelmed at meal times Monitor caloric intake and weight gain or loss Duration of bolus tube feeding should approximate the length of an oral feeding Liquid and food fed orally should be calorie dense up to 30 to 40 calories per ounce Once oral feeding is safely established in moderate amounts a direct subtraction from tube fed calories may begin Look out for signs of respiratory distress in between feeds and stop the program if necessary Criteria of no gagging retching or vomiting to move forward in the program Successful weaning from tube feeds depends upon the child being a good candidate and your adherence to the transitioning techniques Success is positive anticipation of food maintaining gaining weight appropriately no aspiration gagging retching or vomiting and eating 100 percent of calories Orally APPENDIX 80 Types of Feeding Tubes The type of feeding tube used depends on how long a person will be tube fed whether or not the stomach or intestines can tolerate the needed volume of food and other anatomical medical considerations NG Naso Gastric Runs from nose to stomach NG Tube Pros Non surgical e Parents can learn how to place an NG tube at home Easily removed when need be e Good for short
133. on one side Changes in look or texture of skin overlying the spine dimples hairy patches color change Leaning of entire body to one side and loss of balance when sitting If your local hospital or clinic does not have someone with expertise in treating patients with CM you should look outside of your hospital system Connecting with other affected families in your region may help you find the clinical expertise you need Sitting Children aged 18 to 24 months who are not yet sitting may benefit from temporarily using a soft spinal brace for short periods during the day Leg length For those that are ambulatory and have one leg shorter than the other leg length discrepancy this will cause the pelvis to dip down on one side Then the spine will curve Intervention Stages for Scoliosis Before it starts e Check for unevenness asymmetry and correct it Stretch and strengthen the core muscles daily Have good posture when sitting standing walking and sleeping Get supportive seating and shoes Once it is first noticed or diagnosed e See a specialist to learn targeted stretching and strengthening exercises Get evaluated for a rigid brace Increase your level of activity to stay flexible and as strong as possible Carefully monitor breathing ability as it may change at this time Once it has progressed to 30 50 degrees e See an orthopedic surgeon highly experienced with correcting scoliosis in people wit
134. ondition Rehabilitation specialist or Physiatrist A specialist to help individuals with physical and mental disabilities to integrate into society and live independently Respiratory Pertains to breathing Scoliosis An abnormal lateral or sideways curvature of the spine Serial casting Anon surgical approach aimed at reducing muscle tightness around a joint or resolving a contracture Skeletal maturity Determining the degree of maturation of a child s bones Sleep study May also be called Polysomnography GLOSSARY 99 Documenting what happens in a person s body during sleep Many measurements are taken such as readings related to the lungs and heart Brain function along with eye movement and muscle movement are monitored using different tests End tidal CO2 is important to measure during the study Soft palate The muscular part of the roof of the mouth towards the back Speaking valve A plastic attachment that fits at the end of a cuffless tracheostomy tube or a tracheostomy tube with a deflated cuff A speaking valve has a one way valve that opens with inspiration and closes with expiration causing the air to flow out past the vocal cords to facilitate speech Speech therapist A specialist who evaluates diagnoses treats and helps to prevent disorders related to speech language communication voice swallowing and fluency Splinting Application of a splint to keep an injured part rigid to avoid pain or furth
135. ood gas is an analysis of blood oxygen and carbon dioxide levels obtained from your blood It is usually performed in a hospital clinic or sleep lab setting Sleep study Because most breathing problems first manifest during sleep a sleep study might be required especially if you have symptoms of elevated carbon dioxide or have an abnormal FVC predicted Doctors call this type of test polysomnography or PSG but it is more commonly known as a sleep study It is an overnight procedure in which you sleep in a sleep lab or hospital A technician monitors many factors including oxygen level carbon dioxide level pulse brain waves heart rhythm and chest movements This is the best way to detect poor ventilation or sleep disordered breathing like sleep apnea in which people stop breathing for short periods of time during sleep Obstructive sleep apnea in CM is usually caused by weakness of the throat muscles Those with CM are advised to have routine sleep studies to catch problems early Sleep studies can help determine if you need to use bilevel ventilatory support This type of breathing support includes a breathing machine that acts like a pair of bellows and will take over the effort of your breathing at night A sleep study can also help determine if your ventilation choice is effectively supporting your breathing needs at night or if the settings need to be changed on your breathing machine Egually if someone is over vent
136. opment of this family guide Contributors from the Medical Community Dr John Bach physiatrist respiratory specialist Julie Bertram occupational therapist Dr James Dowling original author Dr Amy Delaney speech and feeding Merryn Pearce project officer at Dr Kathryn North s lab Noelle Roberts home nurse of CM patient Dr David Roye orthopedic surgeon Dr Mary Schroth pulmonologist amp Breathing Basics guide Dr Daniel Sheehan pulmonologist amp NM conference speaker Dr Ching Wang original author Contributors from the CM Community Ashli Ambeaux Sheila Au Lyn Krueger amp Kate Baier Justin Brenner Rachel Bronstein Jamie Bruen Stephen Brunning Rita Cochrane Carol Conway Stacy Cossette Brenda Delancey Nick DiBattista Karen Edwards Sharon Fiedler Sarah Foye Paul and Alison Frase Betsy Grant Anna Hallgren Raberta Hill Wendy Hughes Contributors from the CM Community Continued Zak Hughes Lindsay Jones Bridget Kallenberger Lucinda Ladwig Michelle Long Patty Mitchell Indira Monsoomy Katie Ohrler Mats and Nina Ostergard Nadine Patrick Steph Pereira Nicole Ritchie Sharon Fiedler Shimanovsky Jackie Smith Tracey Taylor Erin amp Mark Ward Shannon Welty copy editor and layout designer Melanie Whiston Juliet Wilson Introduction You or someone you know has just received a diagnosis of congenital myopathy CM You may feel shock denial anger or fear You may be nu
137. ors and specialists that are referred to as a multidisciplinary team Depending on the CM subtype symptoms and complications this team may include a neuromuscular doctor neurologist e genetic doctor geneticist lung doctor pulmonologist bone doctor orthopedist e digestion specialist gastroenterologist nutrition specialist nutritionist or dietician oral mouth doctor orthodontist and prosthedontist heart doctor cardiologist e ear nose and throat doctor ENT e occupational therapist e physical physio therapist e speech therapist e psychologist e rehabilitation specialist or physiatrist Playing an instrument can be a source of accomplishment and joy Connecting with other families and people with CM can be a great source of information and support A good way to find the best team to care for you may be ata hospital with specialty care in muscle disorders Explore all your options for the best doctors and realize they may be found at various medical centers It is important to remember There are several different types of CM Not all people with CM have all the symptoms or need all the care or treatments described in this guide There are similarities between people with CM however a person s course with CM is unigue Family vacations can make for wonderful memories e Care must be individualized Comprehensive Care Medical care for individuals with congeni
138. ort to regain your strength and range of motion Head and neck strength you may need support after surgery Pain your pain should be addressed immediately in the hospital and with continuing care once you are back home Constipation constipation can worsen after surgery and should be addressed early on Scoliosis and lung health Continued monitoring of scoliosis as well as your lung function after surgery Hip Dislocation Hip dislocation subluxation of the hip occurs commonly in CM ORTHOPEDICS amp REHABILITATION 34 at birth or anytime during infancy especially with central core myopathies due to RYR1 mutations Preferred treatment is splinting with a special brace called a Pavlik harness until the joint becomes tighter This brace helps position the hip properly The hip may be immobilized for a few weeks Immobility for more than 12 weeks is not recommended because contractures may develop If a child is not walking then surgery is typically not done Surgery may be done if the dislocation causes severe pain very rare or if it is worsening sitting ability or scoliosis If a child is walking then surgery needs to be considered very carefully as it can worsen weakness and may even result in the loss of walking ability Knee Contractures Most of the time no surgery is needed for knee contractures Surgery can be considered if it stops you from sitting in your wheelchair comfortably Ankle Contractures
139. our power company that you have life sustaining equipment at home so that your home is a priority residence for getting or keeping RESPIRATORY MANAGEMENT 20 e Headaches or irritability You may also be asked to cough into a tube to measure the e Poor appetite in the morning or throughout the day strength of your cough This is called peak cough flow Maximal e Nausea inspiratory pressure MIP and maximal expiratory pressure e Loud snoring older CM patients MEP are also important breathing muscle strength measures e Sleeping problems or nightmares These tests are done every six months or once a year usually by Bluish tinged tongue or lips a respiratory therapist working with a pulmonologist One or more of these symptoms could indicate carbon Oxygen measurement Pulse oximetry also called pulse ox dioxide build up and should be discussed with your doctor or uses a painless small sensor that is attached to a finger or respiratory nurse toe to detect the amount of oxygen in the blood This is an easy way to find out if the body is getting enough oxygen If How Can We Monitor Lung Function and Breathing the measured oxygen level is less than 9596 this indicates a Muscle Strength problem such as secretions in the airway or lowered breath volumes Do not offer oxygen to someone with CM with Pulmonary Function Tests PFTs The most common PFT is oxygen levels below 9590 unless you have already considered called spirometry It
140. outh is quite narrow so there is not enough space for the tongue or a full set of teeth to grow in straight Orthodontic care beginning in early childhood can improve the limited space prevent over crowding problems permit proper development of the jaw and teeth as a child grows and improve self esteem Guided development of the jaw and teeth creates better alignment which makes it easier to speak and safer to eat by mouth Receiving orthodontic care beginning in early childhood may provide enough correction without the need for risky surgeries later Sometimes retainers either permanent or removable are used indefinitely to maintain the correction achieved through orthodontia Meet with a specialized medical team experienced in treating oral and jaw face maxillofacial problems in those with CM to find out what the best options are for your situation This team may include a pediatric dentist special needs orthodontist prosthedontist oral surgeon accustomed to helping CM patients speech therapist ENT experienced with CM patients and feeding specialist In some hospital systems they may be called cleft palate or craniofacial teams or specialists If your doctor or medical team recommends use of a general anesthetic to put you to sleep during a procedure make sure they are aware of your CM and the possible risk of malignant hyperthermia It is recommended that medical or dental procedures reguiring anesthesia be done under
141. pecially with a major surgery such as scoliosis surgery Some advance planning can be extremely helpful Wishing you the best APPENDIX 76 APPENDIX 77 Optimizing Body Weight Weight is an important factor in everyone s health and this is especially true in people with CM It is important to track height and weight for people with CM regularly One way to track growth in children is to use a growth curve which compares height and weight to typical children of the same gender and age A child with CM will not likely follow a typical growth pattern but you can establish a baseline for your child and watch the trend over time to make sure he she maintains a healthy growth curve You can ask your primary doctor for a copy of a growth chart to track this over time Body mass index BMI is a common way to measure weight in comparison to height in adults This is also something that can be tracked over time Optimal weight is key for people with CM Being overweight can add extra stress and health problems on the body Some medications such as prednisone may lead to weight gain in people with CM It is common for people with CM to be underweight The body needs some body fat stored in order to function optimally although staying at the lower end of the optimal range is best especially for someone with weak muscles Being too thin can also limit the body s ability to fight illness If you are underweight here are some ideas th
142. porary such as after a surgery or serious illness and can be removed later Throat muscle weakness and all day breathing assistance needs are two of the most primary reasons for choosing a Everyone has very different opinions about invasive versus less invasive approaches to breathing support but personally we feel that the trach isn t so invasive Yes it is very scary to think about but we are so used to it now Outside of dealing with the issues associated with our child always having to have a parent or nurse who is trained to manage her medical care with her at home or at school we find the trach to be very manageable and our child leads a very busy and typical life RESPIRATORY MANAGEMENT 24 ne y S m kW i tracheostomy over non invasive ventilation Having a breathing tube directly in the trachea is sometimes called a trach trache trachy or tracke depending upon where you live in the world The decision to have a tracheostomy or not should be considered carefully by your family and the Trach Care Emergency Kit Suggestions Same size tracheostomy tube Saline One size smaller tracheostomy tube Water based lubricant Suction catheters Bronchodilator MDI Self inflating resuscitator bag Oxygen with CO2 and O2 monitor Trach ties Plan of care Hemostats Emergency phone list with emergency contacts physicians home cell Suction machine Aerochamber Scissors Manual suction RESPIRATOR
143. prescribed oxygen flow if needed The cough cycles alternating with rest periods can be repeated 4 6 times for a full treatment Using with a tracheostomy The CoughAssist treatment can be applied through a tracheostomy tube by using a 15 mm trach adaptor or by adapting to inline suction catheter that would allow for easy removal of secretions from the trach tube Higher exhale pressures may be reguired to overcome the increased resistance of a tracheostomy or endotracheal tube When treating with the CoughAssist through a trach tube it is advisable to use a means for trapping any secretions that may potentially accumulate in the treatment circuit Standard water traps sputum traps or extension tubing with corrugated inner walls can serve well for this purpose APPENDIX 69 Extubation Plan You might find yourself in a situation where you need to be intubated while hospitalized This means that due to breathing difficulty an endotracheal tube is put in through the mouth or nose and into the windpipe Once the breathing difficulty has improved the tube can be removed The procedure to remove the tube is called extubation When having a planned surgery this should be something you discuss with your surgeon or anesthesiologist in advance There may be situations where getting extubated becomes complicated for your medical team A respiratory emergency letter template along with a detailed protocol for how to be extubated to noninvasiv
144. r These options will be explained 15 in more detail in the Feeding Nutrition and Oral Care chapter found later in this guide It is suggested that caregivers become trained in CPR and other rescue technigues like those for choking Weakness Leading to Dysfunction of Intestines The small intestine large intestine colon rectum and anus can also be affected by the muscle weakness You could experience persistent or freguent occurrences of constipation cramping and or diarrhea due to a lower level of physical movement and activity For detailed information about gastrointestinal concerns please see the chapter on Feeding Nutrition and Oral Care found later in this guide Weakness or Dysfunction of Ear Muscles Some people with CM may have eustachian tube problems associated with muscle dysfunction The eustachian tube is a narrow channel that connects the middle ear with the nasopharynx the upper throat area just above the palate in back of the nose The eustachian tube is approximately 1 inches long in adults but much shorter in children There are four muscles controlling the function of the eustachian tube When these muscles are not working properly symptoms can occur such as e Fluid retention in the middle ear leading to muffled hearing and higher risk of ear infections e Painful pressure in the middle ear because there is less ability to egualize pressure Since children may not complain of these
145. r Family s Experience would like to let you know that our son with myotubular myopathy was discharged from the hospital after four months We did not consent to the trach despite pushing from doctors nurses and other hospital staff Instead we asked that he be weaned from oxygen and he did fantastic He entered a three week rehab program at the hospital to regain some of his strength and is now at home with us and his sibling breathing Usually this form of invasive ventilation is only used temporarily and in emergency situations for someone who is not normally ventilated or who would normally use non invasive ventilation It is more commonly used during the early neonatal stage if the infant with CM experiences severe breathing difficulties associated with their respiratory muscle weakness It may also be used in older children or adults with CM during any period of hospitalization with severe breathing difficulties which might have been caused by an illness or as a result of delayed recovery from a surgical procedure Tracheostomy A tracheostomy is a small hole that is made by a surgeon at the base of the throat so that a tube goes directly into your windpipe trachea Then the breathing machine tubing can be directly connected to the tube in the throat This may be necessary in people who need long term mechanical ventilation and for whom non invasive methods were not successful Sometimes a tracheostomy is tem
146. r ability to do your daily activities They will evaluate you by doing a physical examination and may use a tool to measure muscle strength myometer order breathing tests or X rays The orthopedic surgeon will evaluate the need for surgery such as to treat scoliosis You should be seen by a rehabilitation specialist at least annually and an orthopedic surgeon at regular intervals when it becomes necessary 30 Scoliosis Management Scoliosis is a side to side curve of the spine while kyphosis is the backward bending of the spine and lordosis forward bending Any curve more than 10 degrees is considered abnormal These spinal deformities can cause difficulty walking or sitting pain and if severe can worsen breathing ability It is a common orthopedic problem in CM Once found an orthopedic surgeon that specializes in neuromuscular disorders should be contacted There are several different signs that a patient or parent can be aware of themselves to help determine whether they or their child actually have scoliosis If one or more of the following signs are present it is advisable to schedule an exam with your doctor Shoulders are different heights One shoulder blade is more prominent than the other e Head is not centered directly above the pelvis ORTHOPEDICS amp REHABILITATION 31 Appearance of a raised prominent hip Rib cages are at different heights Uneven waist more prominent crease
147. re Committee for the Congenital Myopathies published in the Journal of Child Neurology Ching H Wang et al Consensus statement on Standard of Care for Congenital Myopathies Journal of Child Neurology 2012 27 3 363 382 This task was supported by a grant from A Foundation Building Strength www buildingstrength org and TREAT NMD www treat nmd eu The Committee was composed of 59 experts from 10 medical disciplines including neurology genetics pulmonology orthopedics physical therapy and rehabilitation gastroenterology nutrition and speech therapy A two step online survey was used to gather information on how doctors around the world care for people with congenital myopathy A thorough review of published reports was completed to include the most up to date information The group communicated by freguent email messages and periodic conference calls over the course of a year and a half and formed this consensus recommendation after a 3 day workshop in May 2010 at Stanford University in California The purpose of publishing this care guideline is to establish a consistent approach to the diagnosis and clinical care of people affected with congenital myopathy and to identify areas that reguire additional clinical research to better future care Visit http jcn sagepub com content 27 3 363 refs html to download the Standard of Care document for free HOW TO USE THIS GUIDE BOOKLET This guide is intended for affected persons families a
148. revent stiffness or injury Consume plenty of fluids throughout your exercise and after your routine Hydration and good nutrition are essential to maximize your performance outcome and help prevent muscle cramps way to promote movement for point of exhaustion most CM subtypes For sports lovers high impact sports that could lead to injuries should be avoided Please ask you medical team if your selected sport could put you at risk for harm before undertaking this activity If your CM could have associated heart complications or metabolic dysfunction discuss exercise options and risks with your medical team before exercising Standing Encourage very weak children who have not yet started to stand on their own and others who do not walk but can stand to stand several times daily Standing frames parapodiums tilt tables and orthotics can help maintain upright posture 36 Standing helps to e Minimize stiffness and locked joints contractures in legs e Develop trunk head and pelvic stability Exercise muscles used for standing e Promote independence and self esteem e Strengthen bones Care must be taken to make sure that the equipment straps are not too tight especially across the knees because it may cause fractures if bones are very thin Your physical therapist or rehabilitation specialist will determine how long and how often to stand based on your situation Stretching and Range of Motion Exercise
149. rking with other families Sudden Respiratory Illness Illnesses can be severe in people with CM and can worsen breathing and feeding difficulties Respiratory infections including the common cold and flu are the main causes of hospitalization and should be treated quickly and aggressively Upper respiratory tract illnesses develop in the nose sinuses ears and throat Lower respiratory tract illnesses develop in the lungs You may need to seek hospital care such as IV fluids antibiotics breathing assistance or feeding alternatives to recover from your illness Recognizing the signs of sudden respiratory problems is key to finding out if hospitalization is needed Symptoms include e Long lasting high fever Fatigue e Tired looking or pale Appears to be spending all energy just breathing e Little appetite and poor eating e Increased heart and breathing rate Abnormal movements of chest and belly e Weak cough Inability to cough up mucus e Chest rattle Oxygen saturation below 95 as measured by a pulse oximeter If these symptoms are found call your doctor immediately When you are being evaluated for your illness the medical team will do an exam and testing to decide whether or not to hospitalize you These tests and interventions may include Determining cough strength Pulse oximetry and carbon dioxide measurement Chest X ray to find out if there is a pneumonia or collapsed lung B
150. rn of CM and the gene change s have been identified then testing for future pregnancies can be done Below are the testing options Prior to a Pregnancy e Preimplantation Genetic Diagnosis PGD uses in vitro fertilization the sperm and egg are combined in the lab UNDERSTANDING GENETICS amp TESTING 55 The embryos are tested for the gene change identified in the family member with CM Only embryos without the gene change are implanted This prevents the child from having CM During a Pregnancy e Chorionic Villus Sampling CVS is typically performed at 10 12 weeks of pregnancy A piece of placenta is taken for genetic testing to see if the baby carries the gene change identified in the family member with CM Since this is an invasive procedure it carries a risk for miscarriage Amniocentesis An amnio is typically performed at 15 20 weeks of pregnancy Amniotic fluid the fluid around the baby is taken for genetic testing to see if the baby carries the gene change identified in the family member with CM Since this is an invasive procedure it carries a risk for miscarriage Non invasive Prenatal Testing NIPT is typically performed at 10 22 weeks of pregnancy A blood sample is taken from the mother This technology allows the doctors to separate the babies cells from the mother s cells circulating in her blood The baby s cells can then be tested for the gene change identified in the family member with a gene
151. rocess the new information before thinking of guestions to ask If one visit is not enough for you schedule another visit with that provider or another specialist that may be able to explain things to you in ways you can understand The doctor or specialist should allow enough time for discussion during this visit From this point forward you will likely have regularly scheduled appointments with various specialists Six Key Topics for Discussion During the Diagnostic Visit 1 Diagnosis Your doctor will explain the specific subtype and gene mutation if Known causing your CM Your doctor should also explain the conseguences of muscle weakness such as difficulties with movement breathing and feeding Your doctor should also describe how the disorder affects other body systems 2 Prognosis There is a wide range in how people are affected by their CM so there is a wide range of outcomes In general the first few years of life tend to be the most serious because of breathing difficulties feeding problems and regular illnesses Illnesses tend to be severe and will worsen breathing and feeding difficulties Life expectancy of CM is very difficult to predict even within a family Predicting life span is a topic to discuss with your medical team Life span and guality of life has improved because of new technologies especially related to the management of breathing issues 3 Genetics and risk of having another child with CM If
152. ry Get a feel for if the doctor you are seeing will be a good fit I looked for a doctor that had experience with doing surgery on people with neuromuscular disease as well as with transitioning to non invasive ventilation after the surgery So do you research when it comes to selecting a surgeon Preparation There are many factors to determining when it is time to perform surgery Considerations include age growth overall health surgery schedule availability and the schedule of the whole family We had several months lead time to prepare for the surgery During that time we had a lot of preparation to do like Making sure each parent was in optimal health This included addressing any health issues of our own so that we could be the best caregivers we could be For me that meant losing a few pounds and getting strong by going to the gym regularly The exercise also helped me to deal with the stress Optimizing nutrition of my child Nutrition plays a critical role in healing and recovery We really worked to increase caloric intake for a few extra pounds and increase the guality of food and supplementation Our surgeon often refers families to a nutritionist for this purpose prior to surgery Some families may opt to consider placing a feeding tube for this purpose My son started listening to relaxation tapes at bedtime This was to prepare him to be able to use them as a pain management or sleep strategy in the hospital It wor
153. s Stretching various joints on your own active stretching and by someone else passive stretching helps maintain the amount of movement typical of a joint range of motion and prevents or delays contractures For those with more severe CM forms stretching may be one of the few exercises possible to perform Joints that commonly need stretching include ankles hips knees neck spine elbows wrists and fingers Your rehabilitation specialists will evaluate you to see if you need an orthosis which is a device used to support joints People who spend most of the day sitting can develop tightness of the ankles knees and hips which can be prevented or delayed through stretching For those who are ambulatory maintaining ankle flexibility is critical to continue walking ability as long as possible Following are some things you can do that usually help Ankles These interventions help maintain walking and independence Daily stretching of ankles by family member or yourself Wearing night time ankle foot orthoses AFO Wearing day time dynamic AFO molded AFO or knee ankle foot orthosis KAFO Standing in place during the day with or without an orthotic Progressive splinting using a soft orthotic device to gradually help stretch the Achilles tendon Serial casting using a hard fiberglass cast to gradually help stretch the Achilles tendon ORTHOPEDICS amp REHABILITATION 37 Knees Hips To help maintain a co
154. s a carrier of CM Sons 5090 chance each pregnancy will result in a son with CM 5090 chance each pregnancy will result in a son without CM Daughters 5090 chance each pregnancy will result in a daughter who is a carrier like her mother 5090 chance each pregnancy will result in a daughter who does not carry the gene change and does not have CM She does not carry the gene change so she cannot pass it on to her future children If the father has CM 2 100 chance to have a daughter who is a carrier 9 0 chance to have a son with CM The father will pass on his Y chromosome to his son which does not have the gene change If the mother is not a carrier and the father does not have CM 9 The risk each pregnancy will result in CM is the same as the general population however germline mosaicism cannot be ruled out Family Planning Many people wonder what the future may hold for them and their family members especially when deciding how many children to have Getting your genetic mutation identified is the first step in family planning with CM Once you and your doctor know the mutation you can better estimate the level of risk each pregnancy may have based on the inheritance pattern When the risk is substantial to a family they can discuss pre pregnancy options with a genetic counselor such as in vitro fertilization IVF or adoption Testing Options for Future Pregnancies Once the inheritance patte
155. s for alternating use applying creams or dermal gel pads to prevent pressure sores or dry skin or loosening the straps on your mask slightly There are many types of RESPIRATORY MANAGEMENT 23 interfaces to choose from so you should be able to find a mask that is comfortable Be patient as it may take months to find and get used to a new interface Bloating caused by air getting into the stomach may be prevented by adjusting the pressure settings on the machine to reduce air trapping or by changing to a different mask Some medications may be able to help prevent bloating too such as Tip Ointments with petroleum are flammable and may cause damage to the mask therefore petroleum products should not be used as a skin protectant Oxygen should not be used along with petroleum products like Vaseline those that promote mobility of the digestive system Reflux caused by assisted ventilation may be resolved by medication to help alleviate the symptoms adjusting pressure settings on your machine or elevating head while sleeping Dryness may be resolved by increasing the amount of water you drink during the day Using a humidifier with your ventilator will moisten the air that you are breathing to help with chapped lips thicker secretions and nose bleeds that might occur Invasive Ventilation Endotracheal tube consists of a small tube which is inserted through the mouth directly into the windpipe to assist with Ou
156. ssette at scossette mcw edu for more information Registries an important way to count and identify individuals and families with a specific health condition It includes gathering current contact information and in some cases health information The information is collected stored and used only in ways that respect people s privacy Registries are a key part of a structure that supports researchers doctors and pharmaceutical companies to work towards a better understanding of CM and future treatments The Congenital Muscle Disease International Registry CMDIR includes all congenital muscle disease subtypes Visit cmdir org to learn more and register yourself or someone you care for with CM Clinical Studies this type of study tries to answer a specific medical guestion about CM For example Does CM cause heart failure This could be done by enrolling people and testing them to find the answer The type of tests done will depend on the guestion being asked Some studies do not reguire your direct participation and instead will look into your medical record to gather the necessary information Clinical Trials this type of study involves an intervention The intervention could be a medication surgery exercise plan etc In general trials have a placebo group and a treatment group to see if the intervention is working Placebo means that you are not getting the actual treatment and are instead receiving a sugar pill or
157. t all people face Following are some topics you may want to consider 57 1 Health Insurance The following applies to countries without national health insurance Considerations e Your employer may offer health insurance e You might be able to obtain health insurance through a government program Some might be able to get health insurance through a parent s provider e If your healthcare costs are very high you might consider purchasing your own health insurance 2 Driving Recommendations Meet with a social worker to discover your options e If you are working ask your supervisor or human resources specialist about health insurance through work Considerations TRANSITION TO ADULTHOOD 58 e Weakness movement limitations and slower reflexes can impact your ability to drive e Handicap accessible parking pass Recommendations My Decision to Live on Campus During College One of the most important decisions you ll make in your life is whether or not to go to college after high school and if you choose to go that route which college to attend For someone growing up with nemaline myopathy however an equally important decision is whether to go away to college or stay at home It s a decision that I struggled with when I was 17 as my parents had been my support system for my entire life and I had no idea what to expect without them When I had finally decided on my college a small private school
158. t in some facilities this is done by an occupational therapist Initially they will do an exam to assess oral skills and feeding practices They will watch how you swallow inspect your mouth and try different foods and liquids One of the goals of a feeding swallowing evaluation is to determine risk for swallowing problems and aspiration The clinician will try to find out which foods are safe and appropriate for your skill level and decide if further examination is needed The exam may involve e Discussion about feeding history and current feeding practices Oral examination to assess for any structural problems related to eating Assessment of strength and coordination of mouth and swallowing muscles head control and maintaining posture FEEDING NUTRITION amp ORAL CARE 41 Observation of a typical meal to note oral skills and swallowing e Trials of different foods and feeding methods to help with efficiency and safety People may have difficulties with eating because they are lacking oral skills needed to eat This does not necessarily mean that they have risk for aspiration However if indicators for swallowing problems were identified during the feeding observation exam such as coughing throat clearing respiratory congestion changes in vocal guality and breathing problems during eating then conducting a video swallow study might be suggested as the next step Video Fluoroscopic Swallow Study A video f
159. t means that just one of a pair of genes being miscoded is sufficient to cause symptoms of CM Recurrence Risks For the parents of a child with CM lf one of the parents has CM 9 50 chance each pregnancy will result in another child with CM 9 50 chance each pregnancy will result in a child without CM This unaffected child does not carry the 53 gene change so he she cannot pass it on to his her future children If neither parent has CM and does not carry the gene change The risk to each subsequent pregnancy is the same as the general population however germline mosaicism cannot be ruled out For the individual with CM e 50 chance each pregnancy will result in a child with CM e 5090 chance each pregnancy will result in a child without CM This unaffected child does not carry the gene change so he she cannot pass it on to his her future children Autosomal Recessive Inheritance Autosomal means that both males and females exhibit symptoms of CM Recessive means that two copies of the gene change are required to have CM Those who only carry one copy of the gene change are called carriers and do not typically have any symptoms Recurrence Risks For the parents of a child with CM both parents are UNDERSTANDING GENETICS amp TESTING 54 carriers 25 chance each pregnancy will result in another child with CM 50 chance each pregnancy will result in a child who is a carrier just like the
160. t of the lungs to provide the mechanism of breathing for a patient who is physically unable to breathe or is breathing insufficiently Video fluoroscopic swallow study Also called a modified barium swallow exam MBS or swallow study this is a radiologic examination of swallowing function that uses a special video X ray called fluoroscopy Vital capacity The maximum amount of air a person can expel from the lungs after a maximum inhalation GLOSSARY 100 A Guide for Families
161. tal myopathy CM may reguire the involvement of multiple subspecialists Sometimes those subspecialists work together in a multidisciplinary clinic while in other cases a family schedules separate appointments with each subspecialist It is important for the doctors taking care of you to help draft a care plan This care plan may change over time and should prioritize the most pressing health concerns their surveillance and management Most importantly the care plan needs to be communicated and coordinated between the various subspecialists taking care of you This section is divided into three topics diagnostic visits outpatient visits and hospital Visits Diagnostic Visits The diagnostic visit is when your doctor neurologist neuromuscular specialist or genetic counselor explains the diagnosis in detail to you You may feel overwhelmed with the amount of information presented to you Your doctor should explain the muscle disorder the probable outcomes prognosis and the problems you could encounter in words you can understand You should also be given resources for support such as a means to contact other individuals and families that have a similar muscle condition What you will learn at this visit will help you to predict problems ahead of time and to be prepared You are encouraged to ask guestions take notes and bring other family members or friends to this appointment Commonly a person will need some time to p
162. te a different level of access for me in my community I am still walking and still driving a car but the wheelchair is another option that enhances my independence Also I feel it s important to have people that have similar life experiences that you can connect with and discuss the issues that are impacting you For many of us living with CM means that we lose abilities and possibly even good health at an earlier age than our non disabled peers I think it is important to develop a network of people that have similar lived experiences as well as support from friends and family 3 What is most damaging to mental wellness for someone with congenital myopathy For anyone that lives with a physical disability I think there are a lot of myths and stereotypes that still exist that can create barriers to developing deep relationships When you think about it up until about 40 years ago people with disabilities were still largely kept at home or institutionalized This history meant that most non disabled people never came into contact on aregular basis with people with disabilities to form deeper relationships So to this day and in my own work I see people living in isolation Poverty also plays a factor in this Access isn t just about automatic doors and ramps it s about financial barriers too The majority of people with disabilities are still underemployed or unemployed and they often live well below the poverty
163. term tube feeding NG Tube Cons Need to be changed every 1 3 weeks rotating sides of the nose Easily pulled out Uncomfortable May contribute to swallowing problems and oral aversion Lowers the cough reflex Tube causes more secretions which can be aspirated Tube is very narrow and only very thin liguids and blends will go through Tube can clog Taping the tube to stay can be difficult and sometimes there is a skin reaction from the tape Nasal or eye congestion may occur on the side where the NG tube is located Might make reflux worse because the tube holds the stomach open to the esophagus Very visible and may draw unwanted attention in public Only good for short term use If your child is going to be tube fed for longer than three months consider a g tube The tube can be accidentally misplaced into the lungs instead of the stomach which can be dangerous G Gastric A g tube is surgically placed directly into the stomach through the skin Some hospitals will place a PEG or Bard g tube initially to form the stoma hole for two to three months and then transition to a button g tube Some doctors will tell you that you need to have a Nissen Fundoplication at the same time but this is not true G Tube Pros e Considered a minor procedure placed under anesthesia or possibly without depending upon your hospital e Comfortable for the user e Stays in place well difficult to pull out
164. th predicting the likelihood of passing that mutation on to your children Genetic testing Genetic testing is among the newest and most sophisticated of techniques used to test for genetic disorders which involves direct examination of the DNA molecule itself Geneticist A doctor who studies genetics the science of genes heredity and variation of organisms Gross motor delay The delay of crawling sitting walking or other activities that use the large muscles Growth curve A curve on a graph in which weight and height are plotted to show growth for age over time Heart failure This occurs when the heart is unable to provide sufficient pump action to maintain blood flow to meet the needs of the body Hoyer lift A device with a motorized seat mechanism which enables it to lift the body from a sitting to a standing position or into other places Hyperlaxity or Hypermobility Joints that stretch farther than normal Hypernasality Another name for velopharyngeal insufficiency a condition where the uvula doesn t properly close against the back of the throat causing excess air to come out from the nose It results in very nasally speech that can be difficult to understand Hyporeflexia areflexia The condition of below normal or absent reflexes Hypotonia Low muscle tone Inherited A gene or characteristic that is passed down from parent to child Intercostal The muscles or intervals between the ribs Interdisciplinary
165. th water to meet fluid needs and keep the stomach distended with each meal Each bolus feeding is then increased by about 5 cc every three to four days but see what is best tolerated in your situation In this way there is greater distention of the stomach as the volume slowly increases over time A slow stretch of the stomach will enable the person to tolerate larger boluses and will help to prevent the gagging or choking during the oral feedings to come It is important to monitor body weight and height during this transition Have Patience and Persistence It takes time to change feeding behaviors The longer the time a person goes without eating by mouth the longer it may take to transition to oral feeding It is important to take small steps making sure she or he is comfortable with the pace of the transition process The person has the benefit of using the tube to meet nutritional requirements at this point so try to relax provide positive feedback and keep your expectations realistic Since oral feeding may have been a source of discomfort i e choking aspiration severe reflux vomiting etc an oral feeding aversion may have developed The person may have learned that there is discomfort and perhaps even pain associated with oral feeding and is anxious and afraid to have anything in or around the mouth This can be overcome but some may need the help of a behavioral or feeding specialist during the early phase of transit
166. the genetic cause of your CM is known a genetic counselor can explain what the chances are of other family members having the same CM Even without knowing the genetic cause you can be given an estimate of the risk it could happen again CM 10 can run in families though it could also happen spontaneously It is possible that other family members could have a milder form of the disorder or could develop CM later in life If you have concerns about this please discuss it with a geneticist or genetic counselor 4 Care plan The main goal of a care plan also called a treatment plan is maintaining function To accomplish this you will learn to a Anticipate problems before they happen to head them off b Promote maximum movement and growth of your body It will be hard to remember everything and that s where a care plan comes in A care plan can help you to understand how your days will be patterned to meet the needs associated with CM A daily care plan can help to organize the cares needed every day such as respiratory treatments special dietary needs or medications Pulmonary and nutritional concerns are a particular priority especially during the early years of life COMPREHENSIVE CARE 11 A monthly or yearly care plan can help you coordinate care over a longer time period and would include follow up clinic visits It is ideal to have both a well care plan and a sick care plan Your plan will likely need t
167. tic condition As of 2014 NIPT is used to screen for chromosome abnormalities such as Down syndrome but in the future it may be able to detect CM Genetic Terms UNDERSTANDING GENETICS amp TESTING 56 These are common terms that may be used to explain why the is usually random However in some women one of the X inheritance pattern is not straightforward chromosomes is preferentially active This can explain why women can develop symptoms of an X linked condition Mosaicism a proportion of cells carry the gene change Think of a mosaic tile wall with different colored tiles Manifesting Carrier symptomatic carriers are sometimes called a manifesting carrier Somatic Mosaicism a proportion of cells in the body carry the gene change The gene change occurred after fertilization so only some cells carry the gene change This can explain why symptoms are different in different parts of the body Germline Mosaicism a proportion of egg or sperm cells carry the gene change This can explain why a mother or father of a child with CM is not a carrier but they have multiple children with CM Reduced Penetrance the gene change is not expressed in an individual even though they carry the gene change identified in the family Variable Expressivity different members in the family have different symptoms even though they all have the same gene change Skewed X inactivation women have two X chromosomes in
168. tive for Medical Decisions AKA Wishes document Recommendations Exercise and eat healthy to prevent obesity and minimize other health problems Get screened for potential health concerns to catch them early Take care of your emotional needs and seek counseling when you need help Obtain copies of your medical records Consider pursuing genetic confirmation of your CM if not done yet Seek genetic counseling if planning for a family Discuss birth control with your doctor before becoming sexually active As you plan for having children discuss pregnancy related risks with your doctor i i n ional i i i Considerations See an occupational therapist about developing child care skills if you are adopting or having children of your own e Weakness might increase due to having a larger heavier An Advance Directive will help you explore with a doctor adult body size and through aging how you would like to be treated if you become unable to It s possible to develop a new disorder independent of CM make decisions yourself at any time e Diabetes obesity heart attack and stroke are more prevalent in people as they age TRANSITION TO ADULTHOOD 60 Getting and Keeping Your First Job When You Have CM Basic skills starting at a young age Skill building during high school Begin self advocacy development as early as possible in the child s life Practice social skills with your child early and regularly Practice tal
169. to make your own Snack e Pureed low acid fruit add coconut milk for more calories e Commercial baby food fruit purees add Greek yogurt for protein and calories Fruit smoothie with ice cream or Greek yogurt no fibrous fruits or pulp like oranges or pineapple Smooth ice cream frozen custard or milkshake Dinner Pureed fish no bones with olive oil e Pureed baby food sweet potatoes add buttermilk or butter for more calories Apricot pear or peach nectar juice low acid to drink Snack e Creamy cereal same as fed for breakfast with cornstarch mixed in helps lessen overnight fasting concerns Nutritional supplement drink to boost daily calories and nutrients when needed SOFT TEXTURED DIET Minimal chewing involved for more advanced feeders Breakfast e Oatmeal add ground flax seed for calories and extra fiber e Scrambled eggs e Quiche or souffl e Whole milk or milk substitute fortified with milk powder and whey protein powder to drink Snack e Small curd cottage cheese e Cooked soft mashed or diced avocado no peel remnants or seeds e Diced cantaloupe or honeydew fruit no peel remnants or seeds Lunch e Finely chopped pasta or Orzo with butter or smooth sauce no stringy cheese e Finely chopped soft casserole no tough meat or large chunks Well cooked diced vegetables such as Carrots beets cauliflower no stri
170. to the lungs through a mouth piece mask or inline for trach and vent users Saline mist delivered through a nebulizer helps to moisten thin and loosen secretions making them easier to remove e Good hydration keeps secretions thin and easier to remove so make sure you are getting plenty of water and other liquids in your diet daily Suction Machine A powered device that has a thin plastic tube designed to suck up mucus and excess saliva usually from the nose and mouth or trach This is to prevent the secretions from lodging in the wind pipe which can result in aspiration pneumonia or sudden blockage of the airway which is a breathing emergency Managing Excessive Oral Secretions Some people with CM have too much saliva that cannot be swallowed therefore it spills out of the mouth as drool or may be aspirated into the lungs This can be caused by having overactive salivary glands an uncoordinated swallow and or poor lip closure Some treatments for excessive saliva include e Speech Therapy to improve jaw stability and closure increase tongue strength and improve lip closure best started in infancy for optimal results e L Tyrosine an amino acid found in health food stores and at pharmaceutical suppliers that has been found to reduce secretions in some people No doctor s prescription is needed to obtain this dietary supplement but do let your doctors know if you are taking it There are side effects and it s
171. today with an Elmo cake It s hard for him to raise his arms up above his head but he reaches up for me when he hears music and wants to dance Another part of today s celebration will include dancing in the living room A true boy he loves cars trucks and trains He also loves playing with his older sister and even pulls her hair and throws things at her As I think back on the last two years I picture a dark uncertain and rocky landscape But I also feel the joys that have surprised us along the way Joys made so much sweeter due to the intensity grief and fears that come when your child has a neuromuscular disorder Now we stop to recognize the fullness of everyday typical moments that occur when raising a family Moments I may have otherwise overlooked The joys have come in unexpected form Like seeing my son sit on a stool and push himself to stand for the first time by holding onto the bathtub just so he could play with his sister while she was taking A blog entry from a mother who says writing is a therapeutic coping tool for her a bath Or finally being able to feed him real food by blending baby food yogurt quinoa and chicken together and pushing it through his feeding tube And then there s the parents we ve met that we never otherwise would have and being able to share a deep understanding Even the rocky places have sharpened and strengthened us Like when my son was strapped down for a CatS
172. tor A doctor who specializes in problems with the nervous system The nervous system is broken down into the central nervous system brain and spinal cord and the peripheral nervous system the connection between the nerves and the muscles Neurologists treat different conditions such as epilepsy migraines and developmental delays Some neurologists have additional training and expertise in problems with the peripheral nervous system and the muscles neuromuscular specialists Neuromuscular disorder A broad term that encompasses many diseases and ailments that impair the functioning of the muscles Nissen fundoplication _ A surgical procedure to treat gastroesophageal reflux disease GERD and hiatal hernia Nutritionist A specialist who advises on matters of food and nutrition and the impacts on health 02 07 Oxygen A naturally occuring chemical compound that all humans need to survive Occupational therapist A specialist with expertise in helping people make physical changes to their environments so that activities of daily living such as eating bathing dressing doing school work are easier to do and persons can have greater independence Ophthalmoplegia Paralysis of the extracular muscles that control the movements of the eye Double vision is the symptom for this condition Orthodontist and other jaw related distortions A doctor who specializes in straightening teeth Orthopedist A doctor who specializes i
173. tors therapists Skill building for interviews Relationships and sexuality Recommendations Pursue your dreams and goals Go to reduced cost clinics and use preventive care to minimize costs Living with family friends or roommates will cut living costs and they could help you with daily needs Explore assisted living options Higher education and employment can enhance self esteem while bringing monetary and social rewards Use vocational programs that help disabled clients get jobs within their physical abilities Speak with your doctor or counselor about relationship or sexuality matters 5 Adult Healthcare TRANSITION TO ADULTHOOD 59 Doctor It s Probably Just Your Muscle Disorder When someone has a muscle disorder doctors may forget that they can also have common medical conditions perhaps related to age or gender Here are the thoughts of one adult living with CM on this subject I hate that a lot of doctors blame everything on my muscle disorder So every time I had a sore toe it was because of my muscle disorder Gained lost weight it was the muscle disorder Had a pain in my side it was my muscle disorder but actually it was a tumor When something goes wrong with you they should treat you like everyone else and look for the real cause but not just throw up their hands and say Well it must be your muscle disorder getting worse Mental wellness Family planning e Create an Advance Direc
174. ue which means that the equipment was cleaned of all traces of anesthesia used on a previous patient They should also have the MH rescue medication dantrolene on hand in the surgery room Make sure your surgery team knows you may be at risk for MH COMPREHENSIVE CARE 14 eee eee eee eee eee eee eee eee ee ee sess eee eee eeseeeeeeeseeeeeeeeeeeeeeeeeee All CM subtypes should be considered a possible risk for MH Mutations in the ryanodine receptor RYR1 gene are known to be associated with malignant hyperthermia Neuromuscular Concerns Congenital myopathy is a neuromuscular disorder affecting muscles under voluntary and involuntary control While weakness is the primary symptom congenital myopathy can affect many different body systems and lead to additional health concerns and symptoms Weakness Pain and Fatigue People with CM experience muscle weakness pain and fatigue The exact cause of the muscle pain is unknown but may be caused by the muscle disease itself stiffness in the joints thinner bones or joint deformities that develop over time Muscle soreness is commonly the result of physical exertion such as prolonged standing or writing Fatigue will occur more easily and sooner for a person with CM due to the underlying muscle weakness Generalized or chronic muscle pain and soreness can be treated by e Regular stretching e Manual mobilization of affected areas e Mass
175. ve devices to help give the lungs a workout These are described in the Appendix Emergency CPR It is recommended that everyone involved in the care of someone with CM be familiar with emergency resuscitation called cardiopulmonary resuscitation or CPR Classes are offered through hospitals clinics schools and organizations often at little or no cost You can also find tutorials on the Internet to learn basic procedures that could help keep your loved one breathing until the emergency medical team can arrive RESPIRATORY MANAGEMENT 29 A manual resuscitator known by the trade name Ambu bag can be used for air stacking or lung inflation range of motion temporary breathing assistance or in breathing emergencies It can be used with a mouth piece mask or trach Appendix Items Cough Assist Protocol Adult Extubation Plan Respiratory Emergency Letter Recommendations for Post Operative Care and Extubation of Children and Adults with Neuromuscular Disease How can I encourage movement to help development of the body and respiratory system Orthopedics amp Rehabilitation The branch of medicine that deals with the prevention or correction of injuries and issues of the bones muscles joints and ligaments is Known as orthopedics Muscles control the position and movement of the bones so it makes sense that muscle weakness would likely lead to problems with the bones of the body Orthopedic problems involv
176. weight gain sometimes called failure to thrive in infants e Frequent lung infections e Weak cry in the very young e Shortness of breath Irregular forced or rapid breathing rib flare or using the tummy more when breathing e Weak cough e Frequent choking on saliva e Coughing and choking during feeding e Poor appetite e Poor growth Symptoms or warning signs of high carbon dioxide during sleep e Periods of no breathing during sleep greater than 15 20 seconds apnea e Frequently waking up either partially or fully at night or restlessness during sleep e Difficulty waking in the morning Feeling groggy or sleepy during the day even though you had enough hours of sleep e Difficulty concentrating or poor school work performance Helpful Equipment to Have at Home for Most Subtypes e Suction machine e Carbon dioxide and oxygen monitors e Nebulizer e Cough assistance e Ambu Bag Resuscitator Percussive device cupping device or vest e Humidifier What are the Symptoms of Breathing Difficulties e Vaporizer Also obtain back up machines to cover breakdowns and a generator for Your breathing specialist will monitor your breathing abilities regularly Recognizing the early symptoms of respiratory difficulty is very important If you are concerned about breathing please call your specialist If the issue is urgent go to the emergency room power on when the power goes out ip notify y
177. whether or not the patient still reguires breathing support They will just switch from using the ventilator via the endotracheal tube to noninvasive ventilation Before attempting to extubate the person should meet the following criteria e No fever No supplemental oxygen required to maintain SaO2 gt 9590 Clear chest x ray e Any medications that suppress breathing are discontinued There is a decreased need for suctioning If these criteria are met then consider extubation to noninvasive ventilation with no supplemental oxygen The key factors in successfully extubating to noninvasive ventilation include e Weaning off oxygen to room air Careful monitoring of both oxygen and carbon dioxide levels Using the Cough Assist whenever SaO2 drops below 95 A pulse oximeter and or capnograph will help the team to know when you need more secretion management or breathing support If you run into further breathing trouble try to eliminate mask leaks increase pressure support and or ventilator rate or try using a volume cycled ventilator If these methods have all been tried but you continue to have trouble maintaining oxygen above 95 then you may need to be re intubated and try again at a later time using the same methods It may be necessary to use the noninvasive breathing support for more hours in the day until you regain more of your usual strength When discharged from the hospital you may resume your typ
178. with neuromuscular conditions because it does not provide enough assistance for breathing in and it actually makes breathing out even harder for them It is designed for people with sleep apnea only It will not treat hypoventilation due to weak respiratory muscles Sipper vent This device is positioned near the face with an angled mouthpiece connected to a ventilator The user closes their mouth around the mouthpiece when they feel the need for an assisted breath It provides a volume of air for talking and breathing at the same time Mechanical ventilator This option can be used with a nose or nose mouth mask or through a tracheostomy tube Side effects of using non invasive ventilator devices include skin irritation bloating reflux and dryness Many of these problems can be resolved Some suggestions are below for managing these side effects and you may want to ask your specialist or others with experience using non invasive ventilation for further advice Mask leaks and eye irritation can be alleviated by changing your mask to a better fit putting dermal gel patches to plug any gaps in your mask putting eye gel or drops in your eyes or wearing an eye mask Skin irritation and sores can sometimes occur due to your mask being too tight a poor fit or an imperfect design for your face This may be resolved by providing you with a different mask which is better fitting or by providing you with two types of mask
179. y to moderately affected If there is too much space between the upper and lower jaw then lip closure may not be possible unless that gap is corrected Medications such as scopolamine tropicamide and glycopyrrolate can be effective in reducing drooling but they can also worsen constipation and thicken mucus in the lungs making it harder to cough up L tyrosine has been shown to decrease drooling in some people with nemaline myopathy As with all supplements there may be side effects so please let your doctor know if you are taking L tyrosine The use of Botox injections into the salivary glands for treatment of severe drooling has been shown to be effective as Image credit http www livestrong com article 154898 FEEDING NUTRITION amp ORAL CARE 48 a temporary solution with few side effects It is important that your doctor understands that Botox should never be injected into the muscle of Someone with CM when using Botox in the salivary glands to help with drooling The injections should be made under ultrasound guidance Some things to watch for are thicker secretions as they dry up and possible changes in oral health Repeated injections are often needed for maintenance Good data on effectiveness and side effects in CM patients is still lacking so discuss this with your specialist Speech The ability to speak clearly is often impacted by CM Weak face muscles low voice volume misaligned jaw or teeth narrow
180. y call your doctor who may schedule one or more of the following e Chest X ray e Barium swallow study also called videofluoroscopic swallowing study e Visual examination below the back of the throat laryngoscopy e Examination of the airways bronchoscopy Examination of the esophagus stomach and the first part of the small intestine upper endoscopy There are ways to minimize aspiration and subsequent problems that can occur in people with CM Physical positioning medications careful management of oral intake and activity surrounding feedings feeding tube alternatives and oral stimulation therapy may help to minimize the risk of aspiration To reduce the risk of infection when aspiration does occur ensure good oral hygiene This will lessen the number of bacteria in saliva and decrease risk of infection A common misconception is that artificial airways tracheostomy prevent aspiration Research shows they actually can increase the risk because of reduced elevation RESPIRATORY MANAGEMENT 26 of the air passage around the voice box called the larynx and minimal laryngeal sensation abnormal laryngeal closure and loss of protective reflexes often seen in trached patients Frequent suctioning of ventilated patients is necessary to remove secretions from the nose mouth and back of the throat Maintaining the head of the bed higher perhaps at 30 may reduce aspiration in such patients If they have the strength need
181. y of foods through homemade blended formula This can be as simple as adding jarred baby food to commercial formula or can consist of a diet composed of only blended foods To get started find a registered dietician with experience in blended formulas and see the Appendix for resources eee eee eee eee eee eee eee eee eee eee eee 6 ys CO A My daughter was born with congenital myopathy and had feeding problems from birth necessitating a g tube for all nutrition I anticipated that through therapy her swallowing function would improve and I wanted her to have the option of oral feeding once she was ready This story describes what worked for us to transition my daughter to oral feeds When planning to transition from tube to oral feeds daily oral stimulation activities will be key to combatting oral aversion This is just our experience shared in the hopes that it may be helpful to others Your clinician may have other suggestions for you Before Mealtime We played with sensory stimulating toys around my daughter s cheeks chin lips neck and fingers These included koosh and nubby balls bubbles massagers vibrating toys sensory teethers warm cold and other toys or books with interesting textures I kept these toys only for use as pre feeding activities Introducing Taste and Texture During Mealtime I applied tastes of food to my finger pacifier or oral brush and placed the
182. y s needs Avoid overfilling the mouth as large amounts are harder to control If your child is tired stop the feeding Make sure the mouth is clear of food at the end of the meal Do not lie down or engage in too much activity for 30 minutes following a meal Suctioning During feedings people salivate more and someone with CM may drool more than usual Suctioning the mouth with a portable suction device can help limit drooling prevent the excessive saliva from entering the lungs and remove any food or drink lingering in the mouth after a swallow FEEDING NUTRITION amp ORAL CARE 46 Sample Menu Ideas for Promoting Oral Feeding in Someone with CM Developed by several care givers for children or adults with developmental readiness PUREED DIET No chewing required Breakfast e Baby rice or oatmeal instant puree cereal constituted with whole milk rice milk or soy milk e Porridge Farina Cream of Wheat more dense than baby cereals Milk or milk substitute fortified with milk powder and or whey protein to drink Snack e Smooth yogurt Greek is highest in protein e Smooth pudding made with whole milk or evaporated milk Lunch e Smooth creamy vegetable medley soup add cornstarch for more calories and complex carbohydrates e Strained soup with olive oil and or cornstarch no chunks e Pureed legumes e Vegetable fruit juice medley to drink purchase or use high quality juicer

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