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www euromacregistry eu EUROMAC Through contract no 2012 12 14 101 TIPS for a good life with McArdle Disease L iving with McArdle Disease is A great introduction to living challenging in many ways Running out of energy cramping with this condition I wish I had this book 50 years ago and muscle pain are everyday Nancy McVey experiences Even simple tasks like Very important concepts chewing or drying after a shower can simply explained that often be a challenge get lost or never communicated We pass on practical tips which with the diagnosis McArdle people have found to be Terri Chambers useful We also provide explanations of four key subjects second wind the six second rule your ATP reservoir About the author see inside the back cover and guidance on emergencies This book will help McArdle people to reduce intense anaerobic activity and extend more gentle aerobic activity These 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 reduce or eliminate hospital visits and get more out of life E MOR N THA AT the P Six Sec res Se on erv con d oir d R Win u d sim le a ply nd ex you pla r ine d Andrew Wakelin With a foreword by Dr Ros Quinlivan

101 tips for a good life with McArdle Disease

E MoR N A TH Andrew Wakelin With a foreword by Dr Ros Quinlivan

International English Edition 1 1 August 2016 Frontispiece Euromac Registry www euromacregistry eu The question mark represents the many people who remain undiagnosed Original text copyright of Association for Glycogen Storage Disease UK Ltd 2013 15 All rights reserved No part of this publication may be reproduced stored in a retrieval system or transmitted in any form or by any means electrical mechanical or otherwise without first seeking the permission of the copyright owners McArdle s people come in all shapes and sizes in all ages from all over the world Generally speaking they appear well but have to learn to cope with their unseen disease The people shown range in age from 15 to 64 and have all attended the McArdle walking courses in Wales Left to right from top Andy Williams Singapore Stacey Reason Canada Dan Chambers USA Karmele Ibarra Ere o Spain Gabi Johann Germany Colin Dearden England Cheryl Ellis England Andrew Wakelin Wales David Thompson England Charlton Thear England Jennifer Forrest Scotland Saskia Verpoorte Netherlands William O Neill Ireland Lorraine Baguley Australia Arik Weingartz Germany 4

Contents Foreword by Dr Ros Quinlivan Page 7 About McArdle s 8 Using this book 10 Daily living Tips 1 20 11 Six second rule 12 House and garden 21 33 33 Physical activity 34 43 47 Second wind 48 Your ATP reservoir 54 Exercise good bad and ugly 44 55 61 Reasons to exercise 62 Walking with McArdle s 55 70 75 Personal care 71 80 91 Guidance on emergencies 93 Friends family and others 81 83 103 Eating and diet 84 88 107 Driving travel and transport 89 97 113 Medical 98 110 123 School college and work 111 118 137 Feeling good 119 125 147 The McArdle Mantra 155 McArdle s glossary 157 References 160 Further information and YouTube 162 About the author 164 5

Acknowledgements The author would like to thank Dr Ros Quinlivan Dr John Buckley and all the staff of the UK McArdle s Clinic Kathryn Birch Nancy McVey Stacey Reason and Terri Chambers Thanks also to the following for ideas for tips Dan Chambers Jenny Coyne Marilyn Hawker Alison Thear David Thompson Andy Williams Wendy Wilson and no doubt others from around the world who I can t recall sorry Flick book animation The story of our lives Hold in left hand and flick with right thumb from front to back By Stephanie Von Dressler and Andrew Wakelin Illustrations Photos of McArdle s people by Andrew Wakelin Dan Chambers Stacey Reason Jos van den Einde and Sally Wakelin Photo for tip 98 National Hospital for Neurology and Neurosurgery Diagram for tip 82 Genzyme Corporation via Wikimedia Commons Illustrations for tips 9 22 31 37 42 54 87 106 112 113 and 124 shutterstock com 6 Dr Brian McArdle published a paper in 1951 entitled Myopathy due to a defect in muscle glycogen breakdown 1 The paper described a young man with a lifelong history of exertional muscle pain and stiffness symptoms that previous doctors had dismissed as imagined This is what we now know as McArdle Disease or Glycogen Storage Disease Type V Since then the molecular and genetic basis of the disease has been identified Dr McArdle died in 2002 age 91

Foreword The impact of McArdle Disease can be confusing Simple everyday activities such as chewing food or hanging up clothes are enough to bring on symptoms Yet at another time a McArdle person might hardly notice a problem with a more challenging activity It can be difficult for an affected person let alone a parent partner teacher or employer to grasp these contradictions Many years struggling with exercise intolerance embarrassment muscle contractions maybe even kidney failure can lead to exercise avoidance decreased fitness and weight gain With careful management noticing and responding to the sensations in their muscles individuals can boost their fitness improve their symptoms and make daily life a lot easier A partnership of medical professionals and patient groups can be very effective in advancing the management of rare and chronic conditions This is a practical guide written by people with the condition It will help fellow sufferers improve their quality of life Dr Ros Quinlivan MBBS MD Consultant in Neuromuscular Disease MRC Centre for Neuromuscular Diseases National Hospital for Neurology and Neurosurgery 7

About McArdle s A very rare muscle condition McArdle s is a very rare disorder of muscle metabolism About 2 000 people are diagnosed worldwide We believe it affects about 1 in 100 000 so many more may be undiagnosed It is inherited from parents who are carriers and is not infectious There is no cure but much can be achieved with good management Energy shortage People with McArdle s experience a serious shortage of energy during the first 10 minutes of any activity and throughout all intensive activity Care has to be taken as even activities like chewing or drying after a shower can pose problems Symptoms and risks McArdle s people appear normal and healthy but activity results in premature fatigue exaggerated heart rate pain and muscle spasm If activity continues despite the pain muscles become stiff and swollen and muscle breakdown rhabdomyolysis may occur In severe cases this can lead to life threatening kidney failure or compartment syndrome requiring urgent surgical intervention 8

Longer term risks Longer term the risks are of accumulated muscle damage from repeated over exertion or alternatively of muscle wastage due to the avoidance of activity Adapting activity To cope with necessary daily activities people with McArdle s have to break down any intense activity into very short sections of a few seconds Some activities are avoided and others carried out differently McArdle s people also need to take plenty of gentle exercise to enhance their aerobic capacity The technical bit McArdle s is also known as Glycogen Storage Disease Type V It is inherited in an autosomal recessive fashion Mutations on the PYGM gene on chromosome 11 result in the absence from the muscle cells of an enzyme called myophosphorylase This enzyme made up of 842 amino acids is needed to convert glycogen fuel stored in the muscle into energy at the start of activity and throughout intense activity 9

Using this book The tips in this book These tips were collated from many McArdle s people from around the world We mainly offer practical tips on how to adapt or adjust activities in order to avoid problems and manage more easily Hopefully you will find some tips that are new to you There is a glossary at the back to help you with any unfamiliar words It s up to you You should first be fully confident that your diagnosis is correct We are all affected slightly differently due to our past activities any other complicating conditions and current level of aerobic fitness Assess each tip individually and work out whether it suits you Try to apply ideas from the tips in other activities Disclaimer This book cannot replace personalised medical advice from your family doctor or McArdle s specialist It is simply a supplement to that guidance Understanding of McArdle s may change over time On the Euromac website you can read any updates to this edition and see if a later edition is now available 10

Daily living Adapting and adjusting little things in our daily lives can help us avoid muscle damage This is important as despite recovery from each episode repeated damage can lead to problems later in life 11

Six second rule n When doing something at maximum intensity the instantly available energy lasts for only 5 to 10 seconds2 n Examples opening a firmly stuck jam jar standing on tip toe lifting or pushing a heavy object rushing up a flight of stairs n This relies on the muscle s own fuel store ATP adenosine triphosphate and creatine phosphate n When these are used up people unaffected by McArdle s then convert glycogen stored in the muscle into glucose for energy n McArdle s people can t do this due to lacking an enzyme called myophosphorylase n A painful fixed contracture of the muscle can then develop and last for hours or days n It is best to avoid these activities n If you have to do them count up to six seconds n If the task is not complete by then stop or put it down n Take a break let the muscles recover n ATP will substantially recover in a minute and fully recover in about three minutes Then try again There is more about the six second rule on the AGSD UK web site 12

Daily living Plan to give yourself extra time Don t rush 1 Hurrying is a main enemy of McArdle s The energy demand is too great and we risk muscle cramps Try to plan ahead allow more time and take things steadily 13

2 Daily living When carrying hold close to your body And utilise friction Holding items close reduces the effort needed Pressing them against your body creates friction which transfers weight onto your body instead of your arms Some items can be comfortably carried on your shoulder 14

Daily living 3 Swap back and forth between different activities And swap left and right arms Variety in tasks means variety in the muscles used Each time you change the tired muscles get a chance to recover For example do a few minutes vacuuming swapping arms then take out the rubbish then return to the vacuuming 15

4 Daily living At the supermarket take a trolley not a basket Join a queue at the checkout not a clear checkout If you go in for a just a few items and take a basket you will regret it when you remember some extra items Joining a queue line at the checkout will give your arms a break between unloading the trolley and bagging the scanned items 16

Daily living 5 To carry shopping bags put your hand through the handles Gripping the handles with your fingers is static and likely to cause a fixed contracture Instead put your hand through the loop of the handles to take the load on your whole hand Or use bags with large loop handles to put over your shoulder 17

6 Daily living Get comfortable Avoid spending a long time in an awkward position Being in an awkward position is likely to cause a cramp so get comfortable in situations like the dentist s chair or standing on a packed bus or train If that is not possible regularly change position 18

Daily living 7 Break down physically demanding tasks into short sections For example carrying suitcases and packing them into the car Limit each section to 6 seconds of maximal effort or equivalent 1 Carry to car 2 Lift in 3 Manoeuvre into position Take a break of 1 to 3 minutes between each section to allow your energy store to recover See Your ATP reservoir page 54 19

8 Daily living Resist peer pressure to do things which you know will hurt you Don t feel you have to keep up don t do something because it will be embarrassing to not do it Just be your own person and look after yourself See tip 122 20

Daily living Try a toddler harness so they can t run off just as your muscles give out 9 If you have a toddler try out a toddler harness wrist strap when out and about It will stop them running off towards traffic or other dangers just as your muscles are about to give out and you can t chase after them 21

10 Daily living Take the stairs slowly of course We need to prevent muscle wasting so don t avoid activities altogether If you are able to slowly climb one or two flights of stairs then take the lift the rest of the way But not in a crowd or with anyone you feel you have to keep up with See tips 32 97 22

Daily living 11 Make activity part of your daily life Organise your life so that you automatically stay active without thinking of it as wasted time Can you walk to work Go out at lunchtime rather that sit at your desk Walk to the shops instead of driving See tip 121 23

12 Daily living Relax Try to avoid exercise and activity when tense or stressed Tense muscles work more anaerobically than aerobically So be wary of exercising when tense If you insist on going on a scary fairground ride trust in the equipment and don t grip the bar If scared of heights don t walk near edges See tips 52 78 24

Daily living Ask for a hotel room on a low floor 13 When staying in apartment blocks and hotels ask for a room on floor 1 or 2 Then in the event of a fire alarm when the lifts must not be used you won t have to walk down many flights of stairs 25

14 Daily living Get help in the kitchen Horizontal handle on potato masher easier to press Electric tin opener Gripping tool to open jars Long handled dustpan and brush to save crouching Electric food processor or salad shooter Use a smaller frying pan not a large heavy cast iron one Handle on top of kettle not side Don t fill kettle more than needed Grater that stands with robust handle Electric bottle opener with push button operation Try to avoid gripping crouching and lifting in the kitchen Here are some ideas for tools to help 26

15 Daily living Take in some fuel for muscles affected by fits of coughing and sneezing They can cause muscle cramps Reduce the risk of cramps support the energy demands of uncontrolled muscle spasms with a sugary drink like fruit juice3 May be best avoided if you have a condition such as diabetes So can laughing but it s not easy to plan for that 27

16 Daily living Take care when out in cold weather Cold muscles have to work harder Cold muscles work more anaerobically which McArdle s people can t do so take extra care in cold weather Shivering is very anaerobic get back into the warm 28

Daily living 17 Use a ladder with wide steps not round rungs Ladders are dangerous places and we need to keep as safe as we can Standing on narrow round rungs will put stress on your calves and the soles of your feet Stand more comfortably on a wide flat step 29

18 Daily living Build your self awareness Become familiar with the signals which tell you to slow down or stop for a rest Eventually you can look after yourself without even thinking about it You can consider McArdle s just a minor irritation See tip 119 30

Daily living 19 Leave bars and nightclubs before closing time Closing time is when trouble is most likely to start We can t run to avoid it And the physical effort of a struggle whilst we are tense will be very damaging to our muscles 31

20 Daily living Ask for disabled access at sports stadiums etc Venues such as concert halls and sports stadiums have crowds corridors and stairs potential problems for us Ask in advance for disabled access which may have specially located seating allow use of lifts and enable early entry before the crowds 32

House and garden Ideas for tools equipment and techniques that will help you achieve what you need without damage 33

21 House and garden Two wheels better than one A two wheel barrow has wheels positioned under the load so it takes the weight of the load on the wheels A single wheel barrow involves lifting a large part of the weight with your arms and also needs muscle effort to maintain stability 34

House and garden 22 Weeding Cleaning Sit or kneel rather than squat Squatting or crouching is a static activity and uses large muscle groups It is very demanding of the muscles McArdle s people frequently have to go to hospital if they squat for too long Sitting or kneeling down is safer for us 35

23 House and garden Use secateurs that ratchet up reducing the effort needed Don t attempt to cut anything very thick The grip needed to prune with secateurs clippers in the US can cause a cramp Use a pair that ratchet up and thus reduce the effort needed And take regular breaks See tip 36 36

House and garden 24 Operating a chainsaw or any other potentially dangerous tools First get arms and legs into second wind For any potentially dangerous tool such as a power saw get into second wind before starting the task You don t want to run out of energy or get a cramp whilst exposed to danger See Second wind page 48 37

25 House and garden Use fitted sheets on your bed To reduce the need to grip and lift the mattress When putting clean sheets on the bed lifting the mattress on each side to tuck in the sheets can pose a hazard especially if the mattress does not have handles Fitted sheets go on with much less effort 38

House and garden 26 Keep a trolley to help move heavy items A lightweight folding trolley can be tucked away and brought out when you need it Or try a basket on wheels For example unloading the shopping from the car receiving a delivery moving some furniture or other heavy items around the house 39

27 House and garden Have a chair or stool handy to avoid bending Like loading the washing machine or dishwasher Working when bent over is very energy demanding Keep a chair or stool handy so that when doing these tasks you can sit down to get to the right height for the job 40

House and garden 28 Plan your house e g Low level cupboards for heavy items No awkward reaches It s good to be walking back and fore Plan things so that you are forced to move around the house as much as possible from desk to make tea to toilet to TV etc And try to avoid any heavy lifting etc 41

29 House and garden Lower the height of your washing line Holding your arms up with the weight of wet washing is anaerobic which you can only do for a few seconds at a time A lower washing line needs less energy to reach Hang large and small items alternately to give your muscles a break 42

House and garden 30 Swap some household duties with your partner So they do the ones that put you at risk Swap some regular household duties with your partner so that they take the ones more likely to put you at risk You keep the more gentle aerobic ones which can do you good 43

31 House and garden Get your arms into second wind Do the ironing We don t have many times when we get our arms into second wind ironing is one Start slowly to get into second wind then do a whole batch in one session to get the benefit Avoid rushing to iron an item just as you need it See Second wind page 48 44

House and garden 32 Choose your trips up the stairs Have a safe place at the bottom of the stairs to collect things so you can take a few of them on your next trip up That way you can go when you feel up to it and avoid making too many trips Never take stairs in a rush See tip 10 45

33 House and garden Keep a list of tasks to organise and tackle efficiently Keep a list of upcoming household tasks so that you can organise them and tackle them as efficiently as possible or even pass them on to someone else 46

Physical activity The textbooks say exercise intolerance is the main symptom of McArdle s But daily activities are just as problematic as planned exercise Here are some ideas 47

Second wind n When starting activity if you feel your muscles run out of energy or a cramping sensation slow down If the pain doesn t fade stop for a rest Once it has faded you can resume activity n After 6 to 10 minutes more blood and oxygen is flowing to the muscles which means they can rely on fat stored in the muscle and on fat and glucose circulating in the blood n Our liver releases glucose from its store of glycogen n Second wind partly relieves inaccessibility of muscle glycogen n You will learn to recognise it Heart rate is a good indicator it will drop as you enter second wind n It is not fully systemic Get each muscle into second wind n Even when in second wind if you raise the exercise intensity you can get muscle pain and contracture so pace yourself n Exercising in second wind will train the muscles improving their aerobic capacity this makes second wind easier to achieve and enables you to work harder n Ideally we should get into second wind and then continue exercising for another 30 to 45 minutes and do this most days There is more about second wind on the AGSD UK web site 48

Physical activity 34 Learn about second wind and practise getting into it The second wind is when light to moderate activity exercise4 becomes noticeably easier It is a vital aspect of McArdle s Studies have shown that second wind is universal to all McArdle s people but some may need help to recognise it 49

35 Physical activity Grip Grip Grip No No No We cannot grip at maximum intensity for more than 6 seconds So be wary of all of these things If the jam jar is not open after 6 seconds leave it and come back later Swap hands regularly whilst filling with fuel See Six second rule page 12 50

ToP TIP Learn this tip and use it It will serve you well in almost all that you do Physical activity 36 Avoid pain and cramps by following THE FoUR R s oF McARDLE S Recognise Respond Recover Resume Recognise that your muscles are starting to tighten up Respond slow down or pause for a rest Recover if your recovery takes more than a minute you overdid it Resume because aerobic exercise is vitally important to us 51

37 Physical activity Note increased heart rate as a signal to slow down Some people find heart rate a more useful guide than the sensations in their muscles You need to keep your muscles active but if your heart rate zooms up5 slow down or take a break 52

Physical activity 38 Take care not to let your second wind lapse due to inactivity Once you have got some muscles into second wind if you stop it will fade off and be gone completely in about 30 minutes So be wary of stopping for long See Second wind page 48 53

54

Your ATP reservoir Adapting activity McArdle s people have to pace their activity so that their energy usage does not exceed the rate at which the aerobic pathway delivers Energy store in the muscle cell ATP Adenosine Triphosphate is used to provide energy for muscle contractions A small store in each muscle cell is topped up by the fast anaerobic and slow aerobic pathways In McArdle s only the slower aerobic pathway works Visualise the ATP energy store as a reservoir Picture the anaerobic and aerobic energy pathways as supply pipes bringing energy into the reservoir The anaerobic pipe is large and can quickly respond to provide a fast flow of energy In McArdle s that pipe is blocked The aerobic pipe is smaller and slower but still works Don t empty the reservoir When we exercise we drain energy out of the reservoir So as not to run out of energy we have to ensure that the outflow demand is in balance with or less than the inflow If the outflow is greater than the supply the energy will soon run out This is to be avoided because when muscles run out of ATP they start to break down There is more about adapting activity on the AGSD UK web site 55

39 Physical activity VITA Fo L SAF R ETY Rest before risk When you are about to do something which might involve risk like crossing the road rest for a minute before proceeding This is to ensure that you have energy available to get you through 56

40 for 80 Physical activity of your ATP Once you need to pause for a rest count to 30 seconds Pain in McArdle s lags behind the damage you do Learn to recognise the early signs and slow or rest before you do damage 30 seconds rest will replenish 80 of the energy reservoir in your muscles Then you have some leeway 57

41 Physical activity Learn how to avoid bad days McArdle s people report days when it is difficult to get going Many factors affect this what you have eaten stress the temperature and most importantly moving too quickly from inactive to active The longer you have been inactive the more care is needed to get into second wind See more on web site 58

42 Physical activity Swim only in water you can stand up in And be wary of waves Your muscles can run out of energy so you need always to be able to stand up if that happens In the sea waves can knock you over and make it very hard to get up again Swim with a friend 59

43 Physical activity Seek physiotherapy to help you improve any weak muscles Some muscle wasting is a known complication of McArdle s especially in the upper body If you have some weak muscles ask for help to work on strengthening them It is essential that this is from a physiotherapist who knows about McArdle s 60

Exercise good bad and ugly Regular exercise in second wind improves our aerobic capacity so that we can do more without pain and without the risk of damaging our muscles 61

Reasons to exercise Keeping physically active is not just good for your McArdle s Being more and regularly physically active is proven to be of benefit to everyone In particular it benefits n your mental health and wellbeing n your heart and circulation n your blood and metabolism n your muscle endurance and flexibility n your balance and co ordination n your bone mass and strength We can all suffer from other health conditions especially as we get older People with McArdle s often have health issues such as high cholesterol diabetes or obesity These conditions all gain benefit from regular exercise Currently the only therapy for McArdle s is to improve your fitness and keep your weight down So keep physically active and take regular exercise 62

44 Exercise good bad and ugly Make exercise sociable and enjoyable Then it is much easier to keep it up Arrange to walk with a friend who also needs exercise and explain McArdle s to them Have regular routes that you enjoy and won t worry about what is around the corner For the treadmill fix a time slot when you want to listen to the radio or watch TV 63

45 Exercise good bad and ugly Ignore the saying No pain no gain It s Wrong For McArdle s people pain on exercise is the signal that we are overdoing it and need to slow down or take a break Next time someone in a gym quotes no pain no gain or no gain without pain ignore them it s wrong for us 64

46 Exercise good bad and ugly Accept the saying Use it or lose it IT s RIGHT If we lose all aerobic capacity in a muscle exercise becomes very difficult and damaging We must keep active as it is hard to recover from a very low aerobic capacity Although it is never too late5 65

47 Exercise good bad and ugly Keep a dog It will make sure you get out for a walk A dog will rely on you to take it out for a walk twice a day Perfect for McArdle s A well trained dog will be happy to explore each time you stop for a rest and won t pull you on faster than you want to go 66

48 Exercise good bad and ugly Get help with planning an exercise programme The more unfit you are the more necessary it is to have a personalised programme to help you get started In the UK this is provided by the McArdle s Clinic But if you don t have such support there is some guidance on the AGSD UK web site 67

49 Exercise good bad and ugly Make exercise more meaningful Set yourself a long term objective An objective to gradually work towards over the weeks will give your exercise more meaning Your progress will encourage you as you build up to your objective such as a duration a 12 minute distance or a start speed 68

Exercise good bad and ugly 50 Choose the right treadmill for exercising at home Walking is something that we all use every day so that is the best exercise to adopt Choose the best treadmill you can so that you feel secure and it provides the programmes you need See the AGSD UK web site for more information 69

51 Exercise good bad and ugly Try an electricallyassisted bicycle Don t get left behind Electrically assisted bicycles have improved enormously One will enable you to cycle with friends without fear of hills or getting left behind Cycle on your own and you have no worries about getting home 70

Exercise good bad and ugly 52 Take a break from exercise when unwell or tense When the body is under stress from illness or being tense exercise can be more risky for us Take a break from your exercise routine See tip 12 71

53 Exercise good bad and ugly Extend your exercise to make life better As we exercise in second wind we build more mitochondria in our muscles helping us utilise our fat stores4 6 But it s not just about easing our exercise aerobic fitness makes daily activities much easier for us See Second wind page 48 72

Exercise good bad and ugly 54 Choose a sport that competes on skill When choosing a sport look for one where you compete on skill rather than physical prowess Golf is a great example with lots of walking to keep you aerobically fit But use a trolley for your clubs not a shoulder bag 73

55 Exercise good bad and ugly Keep a log of your performance It helps you stay motivated for exercise Keeping a simple log will help to keep you focussed and looking back at your progress will be a great motivator You can download a log sheet from the AGSD UK web site 74

Walking with McArdle s Techniques can be utilised to enable varied and challenging walking to be enjoyed and our fitness improved 75

56 Walking with McArdle s Plan your route to start on the level Start your walk on flat ground and preferably a firm surface to make it easier to get into second wind 1 mile 1 6 km should be enough The more aerobically fit you are the less you will need to adopt this approach See Second wind page 48 76

Walking with McArdle s 57 Remember slow and steady all the way At the outset slow and steady will help you get into second wind safely No rushing just slow and steady Come to a slope and you may want to slow further See Second wind page 48 77

58 Walking with McArdle s Rest whenever you need to Don t set artificial targets such as a number of paces We must obey the feedback from our muscles and rest when they tell us We must not set artificial targets like saying I ll do another 50 paces that can mislead us into doing too much and potentially getting a fixed contracture 78

Walking with McArdle s 59 Learn to use walking poles Lightweight aluminium telescopic walking poles are great for us They spread the load onto arms as well as legs and give your upper body a chance to exercise in second wind See walking hints on web site and video on AGSD UK YouTube channel 79

60 Walking with McArdle s Face sideways when standing on a steep slope If taking a rest on a steep slope don t stand with your feet pointing up hill as your calf muscles will be stretched and at risk of a contracture Instead stand sideways on the slope with one foot higher than the other Swap legs now and again 80

Walking with McArdle s 61 Adjust your pace for different surfaces Mud long grass and loose gravel McArdle s walking courses Wales 2011 and 2012 Long grass loose gravel soft ground sand mud all these and other surfaces can increase the effort needed Some can make you tense your muscles as you protect yourself from slipping or falling Slow your pace or take more frequent rests 81

62 Walking with McArdle s Z Z ig ag On a steep slope reduce the effective incline and thus reduce the effort by zig zagging across the width of the path On a hillside provided the terrain is safe follow a continuous gentle angle across the slope instead of a direct ascent 82

Walking with McArdle s 63 Take lots of short rests on the way up and a short lunch break before the top Other people press on continuously up a hill then have a long break on top We need lots of very short rests on the way up A short lunch break avoids losing second wind Setting off again we refresh the second wind in our uphill muscles See tip 38 83

64 Walking with McArdle s Look for small steps up They avoid lifting your weight too much in one step Rocky paths are designed for people who don t have McArdle s Each step is often quite high Instead look for intermediate steps or even a point beside the path to reduce each lift of your body weight by comparison to the intended step 84

Walking with McArdle s 65 Learn from walking with other McArdle s people McArdle s walking course Wales 2011 Most of us never have a chance to meet anyone else with McArdle s Walking with others who have the condition and understand what you go through is a revelation We can all learn from each other 85

66 Walking with McArdle s Choose lightweight walking boots In preparation for country walks requiring boots make sure you choose a lightweight brand it makes a big difference Choose boots that have soles with good grip so that you feel safe on poor surfaces and don t tense up 86

Walking with McArdle s 67 Sit or kneel to put on boots It reduces the risk of a cramp in muscles which are not warmed up Before a walk your muscles won t be in second wind so sit or kneel to put on boots rather than stretching your calf by putting your foot up Take a break between tightening laces on each boot or else your arms or fingers may cramp 87

68 Walking with McArdle s Slow your pace at a change of slope When you come to a hill or slope when walking slow down because you will start using some different muscles which will not be in second wind Slowing your pace also protects against cramping due to the increased effort 88

Walking with McArdle s 69 Choose a good backpack With camera lunch flask first aid kit map compass waterproofs and spare clothes a backpack soon becomes quite heavy A fit close to the shoulders and a waistband will make it easier to carry and improve stability 89

70 Walking with McArdle s Set the pace yourself when walking with non McArdle s people When going for a walk with non McArdle s people ask them to let you set the pace See AGSD UK web site for further guidance for walking partners 90

Personal care Simple things like drying after a shower can be a challenge Here are tips to help And some guidance on when to seek medical help after an episode 91

71 Personal care Carry the card This four page folding card provides a useful quick explanation of McArdle s and explains when you may need assistance If you need to go to hospital show the card when you arrive Slip one in your pocket or handbag Available from your consultant 92

Guidance on emergencies Inside the card is a reminder about when to seek medical attention If after strenuous or unusual exercise activity you have one or more of the following signs A few people have experienced these symptoms without exercise Dark coloured urine This is called myoglobinuria or proteinuria and appears as reddish tea to cola coloured urine However if you have eaten strongly coloured food such as beetroot beets there is probably no need for concern Feeling very unwell after exercise perhaps with flu like symptoms can be a sign of rhabdomyolysis muscle damage Low volume of urine Producing a very low volume or no urine at all constitutes a medical emergency unless caused by dehydration as the complications can become life threatening You should m Drink plenty of water to help clear your urine m Go to hospital promptly for medical assessment m Take a urine sample with you if possible 93

72 Personal care Use an electric toothbrush And anything else electric you can think of Brushing your teeth requires an intense repetitive action which rapidly exhausts your energy supply so teeth are not brushed as well as they should be Electric toothbrush problem solved Think electric screwdriver tin opener food mixer 94

Personal care 73 Take your time having a shower and drying yourself Having your arms raised to wash and dry yourself demands a lot of energy Rush and your arms may cramp Don t get too hot as it is harder to get dry Use a really good towel maybe two small ones rather than a large heavy one See tip 1 95

74 Personal care If you have long hair try a wall mounted hair dryer One arm holding the dryer and one the brush can be very tiring This type takes the weight on the wall Give each arm a break by using the brush alternately in each hand Or rest your arm on furniture so the weight of the dryer is partly supported 96

Personal care 75 Never take pain medications before or during exercise We need signals from our muscles to tell us when to take a break Pain medications interfere with the feedback so should only be taken after exercise Avoid opioid based pain meds completely as they cause long term problems Don t take ibuprofen after muscle damage as it is metabolised in the overloaded kidneys 97

76 Personal care Be careful with medications read the data sheet Some medications have side effects involving muscle symptoms and are best avoided Statins prescribed for high cholesterol may pose a risk for some McArdle s people7 only try with caution and under close medical supervision with CK testing 98

Personal care 77 At the dentist s ask for a mouth prop It holds your mouth open without effort If you are in for a long session this simple plastic wedge will prop your mouth open and eliminate the risk of putting your jaw muscles into a cramp If you need extensive work you might ask the dentist to spread it over two visits 99

78 Personal care When you get angry breathe and Anger makes our muscles tense and that makes them work anaerobically which is damaging for people with McArdle s So when you start getting angry breathe deeply and count to 10 to calm down See tip 12 100

Personal care 79 Use gentle massage only not deep massage On a hard fixed contracture it is best to avoid massage altogether A deep massage can be damaging for our muscles so use gentle massage only A muscle which is in a hard fixed contracture is best not massaged at all but just left to rest 101

80 Personal care Limit full on stretches to six seconds Any longer is not recommended for people with McArdle s If you see a physiotherapist for some other problem and are advised to hold a full on stretch for 30 seconds instead limit it to six seconds see Six second rule page 12 Also stretching to eliminate lactic acid is not needed as we don t make it 102

Friends family and others Educating your friends and family about the condition will enable them to help you look after yourself 103

81 Family friends and others Be open about your condition not secretive Think of McArdle s more like a characteristic than a disease As a genetic condition it s just a part of who you are like having ginger hair or blue eyes It s not infectious there is no need to hide it Use the McArdle s Information Card tip 71 or this book to help explain this part of you See tip 119 104

Family friends and others Consider whether other family members are affected 82 It is 3 to 1 against a child of two carriers being affected see above For a child of a McArdle person and a carrier it is 2 to 2 But only about 1 in 160 people is a carrier so the risk is 320 to 1 If symptoms appear in a child get them checked 105

83 Family friends and others Educate your family and friends about McArdle s Then they can understand and help you stay safe People are usually very happy to have an understanding of your needs They will look out for you This book will help explain what living with McArdle s is like 106

Eating and diet There is no magic solution but there are some simple rules Also a few things are worth trying to see what works best for you 107

84 Eating and diet Have a healthy balanced diet Include low glycaemic index carbohydrates such as vegetables and wholemeal pasta You could try changing the balance to more carbohydrates and less protein and then try vice versa See which suits you best But avoid excess calories or your weight will increase In the UK we can get advice from the McArdle s Clinic dietician 108

Eating and diet 85 Keep hydrated during activity and exercise Muscles contain about 75 water and even a small degree of dehydration can worsen cramps Symptoms of dehydration include fatigue moodiness a drained feeling and thirst 109

86 Eating and diet Eat before effort especially breakfast Because we can t access the glycogen stored in our muscles we are very dependent on blood borne glucose produced by the digestion of food Always eat breakfast to help you get going without cramps and nausea 110

Eating and diet 87 Watch your weight Excess weight is the enemy of McArdle s Every small amount over our healthy weight puts an extra load on our muscles which makes cramping more likely There is a link on the AGSD UK web site to the NHS calculator of the healthy weight for your height and age 111

88 Eating and diet Try drinking some coffee Caffeine may help aerobic metabolism Some research has suggested that caffeine may boost the effectiveness of aerobic metabolism However this is controversial You could try a coffee in the mornings and see if it works for you 112

Driving travel and transport We have some tips on driving Public transport can pose unexpected hazards but there are ways to be prepared 113

89 Driving travel and transport Choose a car with power steering And maybe an automatic rather than a manual gearbox The bigger the car the more essential the power steering It greatly reduces the strain on your arms when manoeuvring An automatic rather than manual stick shift gearbox reduces the risk of leg cramps Never ride the clutch on a manual 114

Driving travel and transport 90 Whenever possible find an angled parking space This is the parking with minimum steering wheel movement The worst is parallel parking on the street into a small space with cars waiting behind you when your shoulder and arm muscles can become severely cramped See tip 91 115

91 Driving travel and transport Use your mirrors when reversing your car Avoid turning your head to look over your shoulder That is an awkward position which is static and will result in a muscle cramp within seconds So use your mirrors Practice makes perfect Proximity sensors at the rear also help See tip 90 116

Driving travel and transport 92 When using public transport plan your route in advance Some transport operators will offer advice about routes which avoid stairs or long walks to transfer between platforms etc In London www tfl gov uk has an on line journey planner that can take disability into account such as step free routes 117

93 Driving travel and transport Don t run for the bus there is always another Running for a bus or train is sprinting We can only do 6 seconds and after that muscle cramps will come on Don t be tempted It is more important to stay out of hospital than to be on time See Six second rule page 12 118

Driving travel and transport 94 On the underground if an escalator is broken don t take the stairs get back on the train travel on a stop and walk back Long flights of stairs are a major hazard and should only be attempted very slowly and with plenty of rests on the way Never start on stairs with people behind as they pressure you to keep going Instead a walk back will be good aerobic exercise 119

95 Driving travel and transport Allow plenty of time at airports Or ask ahead for a wheelchair or buggy Walks to flight gates and for inter connections can be long and rushed There is usually no problem in getting some assistance if you ask in advance Be ready to show your McArdle s Information Card see tip 71 120

Driving travel and transport 96 Reduce the load use a suitcase with four wheels Two wheels are good but four wheels really make a big difference The weight is entirely taken on the wheels and it is easy to manoeuvre through awkward places The wheels need to be ones which freely swivel 121

97 Driving travel and transport Be wary of walking in crowds Try to avoid rush hour travel You need to walk at your own pace not that of the crowd and to rest when your muscles tell you to Being swept along by the crowd and then walking up an incline or steps can bring a high risk of cramping 122

Medical A confirmed diagnosis personalised advice from an expert and regular monitoring can all help But you must take responsibility for yourself 123

98 Medical Get checked and advised by experts in McArdle s Exercise assessment Due to the rarity of the disease c 1 in 100 000 people there used to be a high rate of misdiagnosis Get checked by experts and obtain a personal assessment and advice This is likely to include confirmation of the diagnosis through genetic testing 124

Medical 99 Attend for regular assessment and keep in touch with developments Our symptoms can improve or get worse especially those linked to aerobic conditioning As medical science advances recommendations can change So keep in touch with your McArdle expert for regular assessment and updates 125

100 Medical Inform yourself Refer to the Overview and the Handbook The overview booklet is ideal for primary care doctors The Handbook covers in plain English all the medical and scientific research It has references to the key scientific papers 208 pages large paperback Order via the AGSD UK web site 126

Medical 101 Brief your general practitioner about McArdle s Don t expect too much Family doctors will probably never have another McArdle s patient so cannot spend a lot of time learning about it There is a medical overview booklet by Euromac available through your consultant or the ASGD UK 127

102 Medical Be clear and express your concerns The professionals can t understand McArdle s as well as you do We understand what it is like living with McArdle s It is hard for the professionals to get that understanding because they can never experience it first hand We have to be our own advocate 128

Medical 103 Build an understanding of your CK levels Creatine Kinase also known as Creatine Phosphokinase or CPK CK levels rise after muscle injury Keep a note of any results to establish your average level A blood test for CK after an injury will then indicate how much damage you have done Improve aerobic fitness so that the base level comes down See tip 107 129

104 Medical Limit any time with a tourniquet Tourniquets cut off the blood supply to the muscle and will result in injury if left on This is particularly damaging for people with McArdle s A short time for a blood sample to be taken or blood pressure to be measured should be OK 130

Medical 105 Keep a clear plastic jar ready by the toilet Urinate in it if you feel unwell after exercise or just think you have overdone it This will enable you to monitor the colour of your urine without it being diluted in the water of the toilet Reddish tea to cola colour indicates considerable muscle damage See Guidance on emergencies page 93 131

106 Medical Resist the temptation to uncurl your fingers on a clawed hand This will not speed its recovery and risks tearing the muscle which will greatly prolong the recovery time The same applies to any other muscle which is in a fixed contracture 132

Medical 107 Relax about moderately raised levels of CK ALT or AST on routine blood tests All these enzymes can be raised because of McArdle s8 ALT and AST are known as liver enzymes but they are also released by damaged muscle so a moderately raised level is unlikely to require further investigation See tip 103 133

108 Medical Watch out for a high plasma uric acid It can lead to gout and or kidney stones McArdle s people are more prone than the general population to raised uric acid levels in their blood9 This can cause attacks of gout which are very painful It can also lead to the formation of kidney stones Alcohol inhibits the clearance of uric acid 134

Medical 109 Keep some gel packs in your fridge or freezer ready to ease a contracture You can chill or freeze these medical gel packs and put them on a cramped muscle to help reduce the swelling Some people microwave the gel pack to use as a hot compress to increase circulation Both approaches will speed recovery 135

110 Medical Warn your anaesthetist of the risk of Malignant Hyperthermia McArdle people may be at extra risk of a reaction to general anaesthetic similar to Malignant Hyperthermia whereby your temperature increases out of control10 Although the risk is very small it is worth mentioning as the condition is serious 136

School college and work These make up a very large part of our lives Making people aware of our limits enables them to make reasonable adjustments 137

111 School college and work Tell your school college or workplace about your needs In many countries disability rights legislation requires employers and others to make reasonable adjustments to accommodate your needs so that you do not suffer unfair discrimination At school seek permission to use the lift 138

School college and work 112 Ask your school for a second set of textbooks And extra time to transfer between classes Try to avoid carrying heavy textbooks to and from school A few minutes extra to walk between classes means stairs can be taken slowly If there are a lot of stairs can you get permission to use the lift 139

Exercise in school Physical activity is very important for children for both their emotional and physical wellbeing Physical activity prevents excessive weight gain conditions muscles for aerobic exercise and lays the foundations for a healthy lifestyle in adulthood In early years PE is not competitive and focuses on developing balance and movement and thus may not present many problems In teenage years sporting activities are competitive and physically demanding It is important that the child can recognise his her limitations and must be aware of the importance of McArdle specific warm up before sport The child must be allowed to rest as and when required Teachers must be well informed of the condition and trained to monitor the child s condition very carefully during activity It is essential that everyone involved understands the potential risk of rhabdomyolysis It is advisable to deal with the school head to ensure that all teachers are aware of the child s condition and monitor closely to ensure that the child is not bullied as a result Some children with McArdle s cope well with physical activity at school but many do not There are no hard and fast rules each child is different Opting out of PE altogether may be preferable 140

School college and work 113 Discuss PE and sports with school McArdle children need to maintain exercise If included in PE and sports the child must be allowed to withdraw whenever they feel the need As a child gets older it may be safer to exempt them from PE and sports and instead exercise outside school in a safe environment 141

114 School college and work When a child reaches 18 authorise parental notification At 18 children legally become adults in the UK Confidentiality issues arise around providing information to parents The young person should provide the college employer with an authorisation to notify a parent in the event of a McArdle s related episode 142

School college and work 115 Use a briefcase on wheels or a backpack Heavy briefcase It is much easier to take the load on wheels Or use a backpack to carry the load centrally rather than on an arm and hand 143

116 School college and work Say I ll meet you there When going to a meeting with colleagues find an excuse to meet them there rather than walk together and risk problems such as walking too fast or going uphill Plan to be early so there can be no need to rush 144

School college and work 117 Choose a career which does not involve heavy manual work Or any activity which puts you at risk of cramps unless you can control it It s best to start channelling your interests from an early age Look for jobs that won t involve heavy manual work and which won t put you in danger like standing on ladders 145

118 School college and work Do any physical work at your own pace Have a change or take a break whenever you need to Employers have a legal obligation to make reasonable adjustments to enable you to do your job 146

Feeling good We need to stay positive to deal with what is a lifelong condition Acceptance of McArdle s as a part of our make up and concentrating on what we can do will help us to feel better 147

119 Feeling good These people had severe episodes CK up to 300k and subsequently climbed 3 000 ft 900 m mountains Accept McArdle s as part of who you are Work with it don t fight it McArdle s can make us dogged and determined We are likely to be steady and reliable McArdle s is a part of us Would we be who we are if we didn t have McArdle s See tip 81 148

Feeling good 120 Concentrate on what you can do Forget about what you can t do People with McArdle s can achieve remarkable things and excel in all walks of life6 149

121 Feeling good Lift your mood by taking regular exercise Exercise produces endorphins which lift our mood As our aerobic capacity increases our symptoms decrease The result is less pain and getting through life more easily See Reasons to exercise page 62 150

Feeling good 122 Get over your embarrassment Let them wonder Strangers are watching and wondering what s up with us What does it matter Enjoy the moment keep them guessing create a bit of mystery and intrigue Learn to love it See tip 8 151

123 Feeling good Look around You will see people who are much worse off Managed correctly McArdle s is not life threatening or life limiting For the vast majority of us it is not seriously disabling Many other diseases including muscular dystrophies are very much worse We are really lucky 152

Feeling good 124 Set yourself goals and strive for them Put McArdle s to the back of your mind Set some goals in life which you want to achieve and focus on them Consider McArdle s to be only a minor inconvenience 153

125 Feeling good Share your experiences with other McArdle s people McArdle s workshop Denver 2009 It is very affirming to share experiences with people who understand what you go through Make contact on one of the on line support groups including Facebook or through your country s support group co ordinator 154

The McArdle Mantra This set of memorable phrases makes it easier for us to remember the things that are important to looking after ourselves All the tips in this book are encompassed by one or more of these phrases Stroll before Second Pause before Pain Embrace our Embarrassment Rest before Risk Stop after Six Shorten our Static Avoid the Awkward Reduce our Repetitions Think before Tasks Temper our Tension Halve our Hurry Eat before Effort Aim for Activity Extend our Exercise Watch our Weight Mind our Medications Carry our Card For anyone who would like to know more there are some explanatory notes for each phrase on the AGSD UK web site 155

Note your own tips here When you are ready email your tips to type5 agsd org uk and one day you may see them in Another 101 tips 156

McArdle s glossary Acute renal failure Sudden decline in kidney function Requires urgent medical attention In McArdle s it is caused by myoglobin blocking the kidneys Aerobic exercise Exercise which requires oxygen in converting fuel sources into energy Walking is a good example This is good exercise for McArdle s Anaerobic exercise Exercise which does not need oxygen to utilise fuel sources Gripping is a good example The energy for this type of exercise is produced using glycogen which those with McArdle disease cannot do Anaerobic exercise must be avoided as it is damaging to our muscles ATP adenosine triphosphate A molecule in muscle cells which serves as an energy source for the metabolic process Autosomal recessive The type of inheritance by which some genetic diseases including McArdle s are inherited Carbohydrate A type of compound such as starches and sugars found in food Broken down in the body to form energy Low glycaemic index carbohydrates release energy slowly Creatine kinase CK or CPK An enzyme which is used in the formation of ATP People with McArdle disease tend to have a raised level of CK in their blood When muscle is damaged CK leaks out of muscle cells into the bloodstream After excessive anaerobic activity CK can rise to hundreds of times normal Enzyme A protein which the body uses to make a chemical reaction Myophosphorylase which is missing in McArdle s patients is an enzyme 157

Fixed contracture A condition where the muscle has fixed high resistance to movement or spasm It takes some hours or days for the muscle to relax Glucose The end product of carbohydrate metabolism and also found in certain foods such as fruit The chief source of energy into ATP which energises the muscle The process does not use oxygen and is thus anaerobic People with McArdle disease have problems with this process Isometric activity exercise Muscular action in which tension is developed without contraction of the muscle Also known as static exercise Examples clenching fists holding something up or pushing The worst type of activity for McArdle s people Glycaemic index GI A number representing the ability of a food to increase the level of glucose in Lactic acid the blood Low GI foods are beneficial A by product of muscle using for people with McArdle s carbohydrate Exercise leads to a rise Glycogen of lactic acid in the blood but in The form in which glucose is stored in McArdle disease it does not rise the muscles and in the liver It is Malignant hyperthermia MH converted back to glucose to be used A severe form of fever caused by a in the muscles People with McArdle disease have large stores of glycogen in reaction to certain anaesthetics and muscle relaxants Those with their muscles as they are unable to McArdle s are at an increased risk and convert it back to glucose Their liver should tell their anaesthetist stores are normal Glycolysis The conversion of glycogen and glucose via a series of steps finally Metabolism The process by which energy is made available for use in the body 158

Mitochondria A small organ within muscle cells responsible for energy production from fuels Regular aerobic exercise increases the number of mitochondria which boosts the aerobic capacity enzyme There is also a brain type and a liver type Neuromuscular Of the muscle and nerves People with McArdle disease may be diagnosed and or cared for by a neuromuscular consultant Myalgia Pain in a muscle or muscles This is the Phosphorylase main symptom of McArdle disease An enzyme used in the conversion of Myoglobin stored glycogen to glucose A protein found in red skeletal muscle Protein Myoglobinuria Complex organic compounds found Presence of myoglobin in the urine in the body and in foods such as meat resulting in a reddish tea to cola colour Consist mainly of amino acids Serve Muscle damage releases myoglobin into as functions including enzymes in the blood and the kidneys remove it to oxygen transport and muscle the urine See acute renal failure contraction Myopathy Rhabdomyolysis Disease of the muscle McArdle s is a The destruction of cells in skeletal myopathy muscle In McArdle disease this arises from fixed spasm of the muscle caused Myophosphorylase by excessive activity such as lifting The muscle type of phosphorylase something heavy see anaerobic McArdle s people are deficient in this 159

References 1 McArdle B 1951 Myopathy due 7 Vladutiu G D et al 2006 Genetic risk factors associated with to a defect in muscle glycogen lipid lowering drug induced breakdown Clin Sci 10 13 33 myopathies Musc Nv 34 153 162 2 Saltin B 1973 Metabolic 8 Tuzun A Erdil A Bagci S Bolu fundamentals in exercise Med E Onguru O Kurt I Yesilova Z Sci in Sports v5 n3 137 146 and Dagalp K 2002 McArdle s 3 Andersen S T Haller R G and disease case report and review of Vissing J 2008 Effect of oral the literature Turk J Gastroenterol sucrose shortly before exercise on 13 56 59 work capacity in McArdle disease 9 Puig J G de Miguel E Mateos Arch Neurol 65 786 789 F A Miranda E Romera N M 4 Haller R G Wyrick P Taivassalo P et al 2006 Aerobic conditioning Espinosa A and Gijon J 1992 McArdle s disease and gout Muscle an effective therapy in McArdle s Nerve 15 822 828 disease Ann Neurol 59 922e8 10 Bollig G Mohr S and Raeder J 5 Perez M et al 2006 Exercise 2005 McArdle s disease and capacity in a 78 year old patient anaesthesia case reports Review of with McArdle s disease it is never potential problems and association too late to start exercising Br J with malignant hyperthermia Acta Sports Med 40 725 726 Anaesthesiol Scand 49 1077 1083 6 Lucia A et al 2012 The McArdle paradox exercise is good advice for the exercise intolerant Br J Sports Med doi 10 1136 160

Other papers of particular interest Quinlivan R et al 2009 McArdle disease a clinical review J Neurol Neurosurg Psychiatry doi 10 1136 jnnp 2009 195040 Quinlivan R and Vissing J 2007 144th ENMC International Workshop Outcome Measures in McArdle Disease 29 September 1 October 2006 Naarden The Netherlands Neuromuscul Disord 17 494 498 Neurosurg Psychiatry doi 10 1136 jnnp 2008 146548 Lucia A et al 2008 McArdle disease what do neurologists need to know Nat Clin Pract Neurol 4 568 577 Cochrane Reviews Quinlivan R Vissing J HiltonJones D Buckley J 2012 Physical training for McArdle disease Our slow and steady tortoise was adopted as the logo of the Walk over Wales in 2010 A group of McArdle s people met the challenge of walking 210 miles 338 km in 32 days from north to south across Wales and over many of its mountains The group raised awareness of McArdle s and through their blog inspired many McArdle s people around the world Slow and steady all the way was their motto and the tortoise epitomised that 161 stephanievondressler blogspot co uk Andersen S and Vissing J 2008 Carbohydrate and protein rich diets in McArdle disease Effects on exercise capacity J Neurol Quinlivan R Martinuzzi A Schoser B 2014 Pharmacological and nutritional treatment for McArdle disease

Further information Euromac Registry Euromac is a registry of patients affected by McArdle Disease and by other forms of rare neuromuscular glycogenosis where exercise intolerance is the main symptom Key aims are early diagnosis high quality advice and management and eventually an effective treatment or even a cure www euromacregistry eu The McArdle Disease Handbook The Handbook written by Kathryn Birch Ph D and published by AGSD UK brings together all the medical and scientific research on McArdle s It explains in layman s terms the cause of the disease method of inheritance history and current and future treatments Support group and web site The AGSD UK is a support group for people affected by the various Glycogen Storage Diseases including McArdle s Although a UK group the information it makes available on its web site its publications conferences and activities such as walking courses are available to all www agsd org uk 162

Euromac and AGSD UK each have YouTube channels with over 30 videos on various aspects of McArdle s channels Euromac s videos are available subtitled in 8 languages 163

About the author Andrew Wakelin experienced symptoms from age four Finally diagnosed in 1980 at age 30 he had no help until age 50 In 1999 the diagnosis was genetically confirmed two copies of the common R50X mutation Andrew credits walking and cycling in childhood for being less badly affected than many He found he could do a lot by going at his own pace and resting when he felt his muscles tightening up Using techniques he has developed he has climbed all 188 Welsh mountains over 2 000ft 600m and Mount Kilimanjaro at 19 340ft 5 894m As AGSD UK McArdle s co ordinator Andrew has met around 300 McArdle s people and spoken at conferences in the USA Germany and Italy He works with the UK McArdle s Clinic to develop their services research and clinical trials liaises with McArdle consultants around the world and has contributed to published papers He maintains the McArdle s information on the AGSD UK web site In 2010 he led four McArdle s people on the 210 mile 338 km Walk over Wales raising awareness and funds Andrew helps people to appreciate how much they can do through building aerobic capacity and using the right techniques He has devised a residential course to help people develop their walking safely and enjoyably To date people have attended from 14 countries 164

www euromacregistry eu EUROMAC Through contract no 2012 12 14 101 TIPS for a good life with McArdle Disease L iving with McArdle Disease is A great introduction to living challenging in many ways Running out of energy cramping with this condition I wish I had this book 50 years ago and muscle pain are everyday Nancy McVey experiences Even simple tasks like Very important concepts chewing or drying after a shower can simply explained that often be a challenge get lost or never communicated We pass on practical tips which with the diagnosis McArdle people have found to be Terri Chambers useful We also provide explanations of four key subjects second wind the six second rule your ATP reservoir About the author see inside the back cover and guidance on emergencies This book will help McArdle people to reduce intense anaerobic activity and extend more gentle aerobic activity These 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 reduce or eliminate hospital visits and get more out of life E MOR N THA AT the P Six Sec res Se on erv con d oir d R Win u d sim le a ply nd ex you pla r ine d Andrew Wakelin With a foreword by Dr Ros Quinlivan