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This is the problem n n n n The condition arises as a result of an inherited gene mutation The fast anaerobic energy pathway is blocked This results in a severe shortage of energy at times Cramping pain occurs if the energy reservoir is emptied Aerobic energy Anaerobic energy Slow flow Fast flow Blocked in McArdle s Rises with rest or very low energy use ENERGY RESERVOIR Muscle damaged when empty Refills to 80 with 30 seconds rest Energy out to power the muscle 101 Tips for a good life with McArdle Disease 164 page paperback Easy to read guide with practical tips L Information for schools GPs Information for for care decisions support primary bolic myopathy Information to this very rare meta people living with Introduction McArdle Disease medical overview 20 page booklet A quick guide primarily for the family GP and other medical professionals www euromacregistry eu Through contract no 2012 12 1 ew One page overvi iving with McArdle Disease is challenging in many ways A great introduction to living Running out of energy cramping with this condition I wish I and muscle pain are everyday had this book 50 years ago experiences Even simple Nancy McVey tasks like chewing or drying after a shower can Very important concepts be a challenge simply explained that oft en We pass on practical tips which get lost or never communi cated McArdle people have found with the diagnosis to be useful We also provide explanati Terri Chambers ons of four key subjects second wind the six second rule your ATP reservoir About the author see inside and guidance on emergenc the back cover ies This book will help McArdle people to reduce intense anaerobi activity and extend more c gentle aerobic activity Th ese changes can improve day to day life We also provide references to sources of further information The aim is to avoid pain and muscle cramps eliminate hospital visits and reduce or get more out of life More questions A plain language guide to McArdle Disease and how to safely accommodate and support a pupil with this muscle disorder med 14 If you have any further queries the IamGSD will be happy to assist EUROMAC The degree to which children are affected varies greatly from those in a wheelchair to those playing sports Due to delay in diagnosis children may be very incapacitated at diagnosis but with advice and support should improve over time with McArdle s Information Emergency Card Folding card Suitable to be carried at all times Brief explanation of the condition plus reminders of when to seek ease McArdle Dis view medical assistance ical over Disease Degrees children are affected The child s parents can probably share these publications with you or you can request copies via IamGSD 101 TIPS for a good life with McArdle Falls with higher energy use At school Further information www iamgsd org 2 3 4 4 5 Disease What is McArdle Specialised clinic n Genetic confirmatio Inheritance ions condit t mitan Conco is Rhabdomyolys ctures Cramps and contra Pain medication E emerg MedicalM ORencies N results THA Lab Creatine Kinase enzymes Blood Urate Liver Urine Exercise and diet activity Problems with se Beneficial exerci Physiotherapy Diet Alerts Statin therapy Drug side effects al anaesthetic Surgery Gener ysis Rhabdomyol Tourniquets Examinations 6 6 7 8 9 9 n McArdle s is an ultra rare inherited condition which restricts fuelling of skeletal muscles AT the P Six Se re S co s e ec n rv on d W oir d Ru ind sim le ply and ex you pla r in ed n Children with McArdle s cannot utilize the energy stored in the muscle 10 11 12 13 n They have a serious shortage of energy early in 14 14 15 15 15 15 any activity and throughout all intense activity ort Supp Andrew Wakelin 16 With a foreword by Dr Ros 16 n Information cards Quinliva ce 17 Further referen McArdle books Back cover group Patient support n They can develop cramping and pain If activity continues muscles become stiff swollen very painful and hospitalization may be required IAMGSD Association for se International gen Storage Disea Muscle Glyco n They have a second wind somewhat reducing their symptoms after about 10 minutes of careful activity n They need to keep active to keep their muscles The risks they can face functioning and healthy n They achieve a lot by utilizing practical and Pain cramping exhaustion embarrassment are usual Here are just two examples of larger issues management techniques to protect themselves n Some simple adjustments and allowances by the An everyday problem to avoid n Walking on the level at their friend s pace in a minute their legs feel heavy Embarrassed they struggle on Cramping starts They slow down but it really hurts Legs like cement they can hardly move Heart pounding feeling sick and light headed they grind to a halt Their friend says You are really unfit IAMGSD International Association for Muscle Glycogen Storage Disease 746 4th Avenue San Francisco CA 94118 USA info iamgsd org www iamgsd org v1 10 2017 A risk of a rare complication of a contracture n They carry a grocery bag from the car it s heavy but they manage Their hand is making a fist their fingers won t open More than a cramp a fixed contracture muscles swollen locked solid The pain is extreme Next morning their hand is tingling numb and an odd color Off to hospital After tests the doctor says You have compartment syndrome we have to operate immediately school are an essential contribution to the child s safety and on going improvement IAMGSD International Association for Muscle Glycogen Storage Disease

Strategies used by children You will notice that children use these key strategies to help them handle their physical activity and avoid pain They are not being lazy or intending to be disruptive Slowing or pausing to balance energy During even simple activity like brushing teeth drying after a shower or walking on the flat or up a flight of stairs children will n Slow down to ease the energy demand n Pause for 30 seconds rest then continue perhaps more slowly n Do these frequently in the first minutes of activity n Find symptoms easing after about 7 to 10 minutes when a second wind occurs as other energy pathways start up n With each muscle group used this process has to be repeated n In second wind a child may behave normally but is still at risk n Second wind will be lost due to inactivity during a lesson Breaking intense tasks into sections During maximum intensity tasks such as carrying a heavy object or standing on tip toe children with McArdle s will n Interrupt the task after 6 seconds n Rest for 30 seconds so the energy reservoir refills then try again n This avoids a painful muscle contracture which would otherwise occur and last for days possibly needing medical attention Resting before a risk Before a risk such as crossing a road or lifting something heavy children will often first rest for at least 30 seconds to ensure enough energy is available to get them safely through In the event of overdoing it Occasionally a child may accidentally do something which causes them longer term pain n Allow them to sit down rest and have water to drink n If they are not recovered within 10 minutes call a parent n If severe consider whether they should be taken to hospital n The emergency card see back page reminds of the decision points to consider Once diagnosed advised taught techniques and returned to aerobic fitness most children are very seldomly hospitalized Ideas on allowances Schools and must liaise with the parents and discuss any concerns The following notes will help to explain the areas of need n Make sure that they stay active at their own pace It is vital that children are as active as possible but always utilizing their strategies such as outlined opposite If restricted from activity children will quickly suffer loss of aerobic fitness and muscle mass both of which will make symptoms worse and increase the risk of muscle damage n Brief the sports and physical education staff Children must be allowed time to get into second wind see opposite They must have the right to not engage in activities or stand out mid activity at their own decision and without question Isometric and other anaerobic activity at maximal effort must be limited to 6 seconds n Don t keep them in a wheelchair Diagnosis is often delayed with children wrongly treated If put in a wheelchair they become very deconditioned Support them to walk as much as they can with the wheelchair only for when they want it not for the convenience of others e g do not enforce use of a wheelchair on school trips but instead provide support n Provide an extra set of books If printed textbooks are used provide two sets so that they do not need to carry them between home and school n Provide help for writing McArdle s affects all activity especially repetitive movements such as writing and isometric activity such as gripping Encourage the child not to grip or press hard Offer rubbery grips for pens and pencils to make gripping easier Consider the need for an iPad tablet n Allow extra time for written exams For many children there is a requirement for extra time in exams due to a slow speed of writing and a need for rests There is no known link to intellectual impairment n Authorise to use the elevator lift At an appropriate age and with training allow the child to use the elevator lift to move up floors when changing classrooms n Allow time to avoid rushing Rushing between classrooms can be very harmful especially if caught up in the throng Consider allowing children to leave the classroom a few minutes early n Be understanding of lateness Despite best efforts children can be late for school They should not be admonished in front of other children n Provide an accessible locker Children may struggle to reach their locker and return to the classroom especially if carrying extra items such as PT kit Provide an easily accessible locker or an alternative safe place for them to leave possessions n Allow water in the classroom Muscles are 80 water so good hydration is important Allow the child to have access to water to drink in the classroom n Watch out for peer pressure and bullying Staff need to be aware of the danger of isolation and of bullying But also children should be supported to resist peer pressure to perform activities that they know will hurt them n Support during days off sick Illness can be very debilitating with McArdle s often requiring time off that other students would not need Even a simple cough can cause cramps due to over stress of chest and stomach muscles Children should not be penalized but supported with work to do at home For older students n Consider anxiety and depression As a chronic condition with self image issues and a risk of episodes needing hospitalization depression and anxiety may be an issue Do not single out or draw attention to the student even with good intention n Respect their own decision making With training and experience students will become adept at making their own decisions about their need to return home or to seek medical attention n Understand always at risk Older children may have learned to manage their condition well At times especially in second wind they may appear normal in their activities However this is misleading They always remain at risk of severe episodes