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A quick overview n McArdle s is an ultra rare inherited condition which restricts energy for skeletal muscles At home Front cover photographs McArdle s people come in all shapes and sizes from all over the world They often appear well but have to cope with their unseen condition The people shown here range in age from 5 to 68 and are from 7 countries The question mark represents the many people who remain undiagnosed with McArdle s Friends and family information n People with McArdle s cannot utilize the energy stored in the muscles n They have a second wind which somewhat reduces their symptoms after about 10 careful minutes n They need encouragement to maintain an active lifestyle n Regular activity will help to keep their muscles functioning and healthy n They achieve a lot by utilizing practical and management techniques to protect themselves n Some simple adjustments at home will help enhance their safety and their on going improvement 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 It is an easy to read guide with explanations of second wind the 6 second rule the ATP energy reservoir and 30 for 80 There are practical tips for patients which also illustrate the impact on their every day life 164 page paperback www euromacregistry eu Through contract no 2012 12 14 EUROMAC n There can occasionally be very serious complications of such contractures The person with McArdle s can share this book with you or you can request a copy L from IamGSD E MOR N THA 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 Disease n They can develop pain and cramping If activity continues in pain muscles become stiff swollen and very painful Further understanding 101 TIPS for a good life with McArdle n They need to avoid being in a rush and will be particularly slow and may stop start at the beginning of activity A plain language guide to McArdle Disease to help family and friends to understand and support the a ected person Andrew Wakelin With a foreword by Dr Ros Quinlivan In the event of overdoing it Very occasionally a person with McArdle s may get something wrong and hurt themselves n Allow them to rest and have water to drink n Ask if you should call a partner or relative n In severe cases ask if they need to be taken to hospital n They carry a card to remind them of the decision points For most people with McArdle s it is a very rare occurrence to need to be hospitalized IAMGSD International Association for Muscle Glycogen Storage Disease 746 4th Avenue San Francisco CA 94118 USA info iamgsd org www iamgsd org v1 11 2017 n They have a serious shortage of energy early in any activity and throughout all intense activity IAMGSD International Association for Muscle Glycogen Storage Disease

Their rare genetic condition McArdle s is very rare affecting about 1 person in every 100 000 It is inherited from parents who are both carriers but who do not have symptoms themselves Each of the children of carriers have a 25 chance of having McArdle s Their issue with energy People with McArdle s cannot use energy which is stored in their muscles due to a missing enzyme With intense activity they run out of energy in 6 to 10 seconds With more gentle activity like walking on the flat it may take a minute or two n The fast anaerobic energy pathway is blocked n There is a severe shortage of energy supply at times n 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 Falls with higher energy use Energy out to power the muscle The risks they face Pain cramping exhaustion and embarrassment are usual Here are just two examples of the types of issue that arise n An everyday problem to avoid 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 n A contracture and rare complications 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 Intravenous fluids and paid medication are administered In rare cases renal failure and or compartment syndrome are diagnosed Some strategies they use A person with McArdle s will use these key strategies to help them handle their physical activity effectively and avoid pain Slowing or pausing to balance energy During activity such as chewing brushing hair drying after a shower and walking people with McArdle s n Slow down to ease the level of energy demanded n Pause for 30 seconds rest then continue more slowly n Do these frequently in the first 10 minutes of activity n Find symptoms easing a little after about 10 minutes when second wind occurs n With each muscle group used this process is repeated Breaking intense tasks into sections During maximum intensity tasks such as carrying a heavy object opening a new jam jar squatting or standing on tip toe people with McArdle s will usually n Interrupt the task after 6 seconds n Rest for 30 seconds so that the energy reservoir refills then try again n This avoids a painful contracture which may otherwise occur last for days and might need medical attention Some things they do The majority of people with McArdle s are able to learn techniques adapt activities accommodate the condition remain active and live relatively normal lives Things they do for protection n Restricting anaerobic and isometric activity to 6 seconds greatly reduces the risk of a getting a muscle contracture n Avoiding risky situations such as swimming in deep water or climbing to heights reduces the risk of accidents Things they do for benefit n Getting into second wind after about 10 minutes of careful activity when the muscles start to make more use of sugar released from the liver and fat makes activity a little easier n Regularly exercising in second wind 45 minutes five days a week in recommended improves aerobic conditioning and makes more activity possible with fewer problems How you can help them Before a risk such as crossing a road climbing a ladder or lifting something heavy they often first rest for at least 30 seconds This should ensure that enough immediate energy is available to get them safely through the activity instead of grinding to a halt as the energy reservoir empties n When walking together allow them to set the pace n If they pause for a rest don t make a fuss or draw attention just wait patiently n Be understanding of their need to rest more frequently early in activity than they do later on n Read the 101 Tips book see back cover to get a good idea of what they should and should not do n Recognise that even simple things can prove difficult or even risky e g carrying groceries moving furniture vacuuming etc n Around the house divide the chores so that they do the more aerobic ones and you do the more anaerobic ones n Watch out for them stubbornly doing something anaerobic and especially isometric that they should not do Offer to take over from them n Give them gentle encouragement and support to keep active and build activity into their daily life The medical jargon explained Why they avoid contractures Resting before taking a risk Aerobic activity which requires oxygen in converting fuel sources into energy Walking is a good example and is good exercise for McArdle s Anaerobic activity which does not need oxygen to utilise fuel e g gripping Energy is produced from muscle glycogen which McArdle people cannot do Contracture when a muscle becomes locked up swollen and extremely painful Often lasts for days Can have very serious complications Inheritance McArdle s is inherited in an autosomal recessive pattern Isometric muscular action which is static e g clenching fists holding something up pushing The worst type of activity for McArdle s people Myophosphorylase the enzyme which is deficient or absent in McArdle s n Broken down muscle myoglobin released into the bloodstream can cause acute kidney failure which can be life threatening and must be treated urgently n Very rarely a contracture may develop into compartment syndrome requiring urgent surgery to prevent permanent damage to muscles and nerves n Repeated contractures over many years may make activity harder in later life