{"id":4091,"date":"2012-11-26T04:15:09","date_gmt":"2012-11-26T03:15:09","guid":{"rendered":"https:\/\/blogs.bmj.com\/bjsm\/?p=4091"},"modified":"2012-11-27T20:28:02","modified_gmt":"2012-11-27T19:28:02","slug":"mcardle-olympians-lessons-from-patients-own-experiences","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/bjsm\/2012\/11\/26\/mcardle-olympians-lessons-from-patients-own-experiences\/","title":{"rendered":"McArdle Olympians \u2013 lessons from patients\u2019 own experiences"},"content":{"rendered":"<h2>By Dr. Alejandro Lucia and Mr.\u00a0Andrew Wakelin<\/h2>\n<p>In this guest blog, we present self-reports of exercise accomplishments by McArdle patients.\u00a0Glycogenosis type V (glycogen storage disease type V [GSD V], McArdle disease or myophosphorylase deficiency) is a relatively rare (e.g. prevalence of ~1\/167,000 Spanish people) disorder of skeletal-muscle carbohydrate metabolism inherited in an autosomal recessive manner. Patients are unable to obtain energy from their muscle glycogen stores. As a result, they typically experience exercise intolerance in the form of reversible, acute crises of early fatigue and contractures, sometimes with rhabdomyolysis and myoglobinuria, which are triggered by static muscle contractions (e.g. lifting weights) or dynamic exercise (e.g. climbing stairs, brisk walking).<\/p>\n<p>Exercise is the trigger for symptom occurrence in McArdle patients; as such, they tend to be averse to exercise and have often been advised by clinicians to refrain from exercise.\u00a0\u00a0There is no prospect of a definitive cure (e.g. genetic therapy) for this disease in the foreseeable future. However, regular, moderate-intensity aerobic exercise can be one of the best allies of patients.<\/p>\n<p>Our aim in sharing these vignettes of patients&#8217; \u2018success stories\u2019 is to motivate patients with McArdle disease, and educate clinicians. Some of these accounts are of people who have devised their own way to cope with the condition. Others have been guided by medical and exercise professionals. And yet others have learned from peer groups how to manage the condition. With ages ranging from 16 to 64, these patients show what can be achieved.<\/p>\n<p>[<span style=\"color: #008000\">Alejandro and Andrew are two authors of the BJSM Editorial \u00a0<strong>The \u2018McArdle paradox\u2019: exercise is a good advice for the exercise intolerant <\/strong>( Lucia A, Quinlivan R, Wakelin A, Mart\u00edn MA, Andreu AL\u00a02012), click<\/span>\u00a0<strong> <a href=\"http:\/\/bjsm.bmj.com\/content\/early\/2012\/06\/28\/bjsports-2012-091130.extract?sid=c88c834a-ee95-4c8e-b6fb-f26b59962a4e\">here<\/a>\u00a0<\/strong><span style=\"color: #008000\">to read the article<\/span><strong>]<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p><span style=\"color: #800080\"><strong>JC, age 16, Girona (Spain). <em>PYGM<\/em> genotype p.R50X\/p.R50X.<\/strong><\/span><\/p>\n<figure id=\"attachment_4092\" aria-describedby=\"caption-attachment-4092\" style=\"width: 225px\" class=\"wp-caption alignleft\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-4092\" src=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/genoa-225x300.jpg\" alt=\"\" width=\"225\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/genoa-225x300.jpg 225w, https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/genoa.jpg 250w\" sizes=\"auto, (max-width: 225px) 100vw, 225px\" \/><figcaption id=\"caption-attachment-4092\" class=\"wp-caption-text\">Maintaining regular exercise at home.<\/figcaption><\/figure>\n<p><em>I was diagnosed at the age of 12, although I fatigued easily with physical activities since I was a kid. For this reason, I was always considered to be just a lazy guy. A cardiologist noticed I had very uncommon tachycardia at the start of an exercise treadmill test when I was 12. This prompted clinicians to do more studies on me, starting with a blood analysis that revealed very high CK levels. <\/em><\/p>\n<p><em>Since diagnosis, I\u2019ve been following a combined resistance (mostly light weight lifting) and aerobic program (cycle-ergometry) with increasing loads, under the supervision of an exercise physiologist. I take my sports drink before a weight-lifting session and I am especially careful with those exercises that I don\u2019t practise regularly, e.g. swimming or skiing. These are the ones that can cause contractures. My CK levels have been stable in the last years (in the range of 1,500-3,000 U\/L) and my muscle fitness has continued to rise gradually since diagnosis.<\/em><\/p>\n<p><span style=\"color: #800080\"><strong>AW, age 62, Builth Wells (UK). <em>PYGM<\/em> genotype p.R50X\/p.R50X.<\/strong><\/span><\/p>\n<figure id=\"attachment_4093\" aria-describedby=\"caption-attachment-4093\" style=\"width: 300px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-4093 \" src=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mcardle-2-300x194.jpg\" alt=\"\" width=\"300\" height=\"194\" srcset=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mcardle-2-300x194.jpg 300w, https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mcardle-2.jpg 453w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><figcaption id=\"caption-attachment-4093\" class=\"wp-caption-text\">Taking care scrambling on Tryfan, Snowdonia.<\/figcaption><\/figure>\n<p><em>I had symptoms from age 4, always wanting to be carried on family walks. I could never manage school sports, was not picked for team games, was often frozen to the spot in tears of pain, frustration and humiliation. However, in teenage years a newspaper delivery round gave me an hour\u2019s exercise every day at my own pace, resting whenever I needed \u2013 perfect for my developing muscles. I learnt that I could do a lot if I did it at my own pace in my own way. I undertook an \u201cOutward Bound\u201d course where I realised that my arms were affected a well as my legs (of course McArdle\u2019s actually affects all skeletal muscle). I even climbed Mount Kilimanjaro, at 5,895 m. <\/em><\/p>\n<p><em>I was finally diagnosed age 30, but received no advice for another 20 years. When at last I found a doctor who knew about McArdle\u2019s I was able to put a name to the \u201csecond wind\u201d that I had used since as early as I could remember. Using second wind and adopting techniques to avoid anaerobic activity I have climbed all 188 mountains in Wales over 600 m. I get the start of a muscle cramp about 10 times a day and try always to heed the warning in time. Yet a few moment\u2019s lack of attention can lead to a fixed contracture \u2013 I have done it just putting on my walking boots. I aim to get no more than one or two a year, but the risk of a damaging muscle demand outside of my control is always there.<\/em><\/p>\n<p><span style=\"color: #800080\"><strong>LB, age 64, New South Wales (Australia). Muscle biopsy, zero myophosphorylase.<\/strong><\/span><\/p>\n<figure id=\"attachment_4094\" aria-describedby=\"caption-attachment-4094\" style=\"width: 300px\" class=\"wp-caption alignleft\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-4094\" src=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mcarcle-3-300x192.jpg\" alt=\"\" width=\"300\" height=\"192\" srcset=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mcarcle-3-300x192.jpg 300w, https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mcarcle-3.jpg 453w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><figcaption id=\"caption-attachment-4094\" class=\"wp-caption-text\">Enjoying the Great Ocean Road, having learnt to cope with stairs<\/figcaption><\/figure>\n<p><em>I have always struggled physically but somehow got through life despite the muscle pain and exhaustion. At age 60 I was diagnosed with polymyositis, put on steroids and told to avoid all exercise. After 18 months my condition had deteriorated so much that I could walk only about 20 m. I was convinced the diagnosis was wrong and, after a second muscle biopsy, was finally correctly diagnosed with McArdle Disease. <\/em><\/p>\n<p><em>With no advice available in Australia, I started exercising again on my own initiative, pressing ahead despite the pain. Finding an on-line support group I learnt that was wrong. I started to keep within the aerobic phase and built up my distance to 3 km, walking only on the flat. Then in 2011, I joined a McArdle\u2019s walking course in the UK, where I learnt to walk safely in the hills and completed a walk of 11 km with 430 m of ascent. I now have the confidence to tackle all kinds of terrain, I know how to handle my McArdle\u2019s and look after myself. My motto now is \u201cI\u2019ve conquered mountains\u201d.<\/em><\/p>\n<p><span style=\"color: #800080\"><strong>SW, age 59, London (UK). <\/strong><strong><em>PYGM<\/em><\/strong><strong> genotype p.R50X\/p.R50X.<\/strong><\/span><\/p>\n<figure id=\"attachment_4095\" aria-describedby=\"caption-attachment-4095\" style=\"width: 199px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-4095\" src=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mc-4-199x300.jpg\" alt=\"\" width=\"199\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mc-4-199x300.jpg 199w, https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mc-4.jpg 263w\" sizes=\"auto, (max-width: 199px) 100vw, 199px\" \/><figcaption id=\"caption-attachment-4095\" class=\"wp-caption-text\">The physical challenges are very different to what most McArdle people face.<\/figcaption><\/figure>\n<p>2<em>2 years ago, just after being appointed Principal Harpist of the BBC Symphony Orchestra, I was told \u2018now you must conserve, not use, energy\u2019, because I had \u2018a very rare disease called \u2018McArdle\u2019s Syndrome\u2019. At 37 years old, a diminutive 1.53 m tall, I had travelled the world with a mighty 47 kg instrument since the age of 18, so that came as a shock. After the initial panic, I decided that despite complaining of noticeable pains, exhaustion, and being told I was \u2018unfit\u2019 by about 30 doctors from a young age, my music had kept me going. <\/em><\/p>\n<p><em>The benefit of slow, minutely detailed finger exercises and gradual build up of power, speed and strength, together with a relaxed and focused posture, enables me to do up to seven hours a day of practise. I have developed special playing techniques that suit my McArdle\u2019s. It was difficult to accept that my repertoire has to be carefully chosen (very repetitive pieces are never going to be possible), but with a very healthy eating pattern, concentration, and passion for music with its healing affect on the emotions, I still lead an exceptionally active life in general.<\/em><\/p>\n<p><span style=\"color: #800080\"><strong>SR, age 42, Toronto (Canada). <\/strong><strong><em>PYGM<\/em><\/strong><strong> genotype p.R50X\/p.G135R.<\/strong><\/span><\/p>\n<figure id=\"attachment_4098\" aria-describedby=\"caption-attachment-4098\" style=\"width: 300px\" class=\"wp-caption alignleft\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-4098 \" src=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mc-5-300x225.jpg\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mc-5-300x225.jpg 300w, https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mc-5.jpg 369w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><figcaption id=\"caption-attachment-4098\" class=\"wp-caption-text\">With other McArdle walkers, three quarters of the way through the \u201cWalk over Wales\u201d<\/figcaption><\/figure>\n<p><em>I was always keen on sports and running but could never understand why my performance didn\u2019t measure up to that of my friends, despite doing more training than them. I was sure something was wrong but had no idea what it was. One day I was hit by a car whilst out running and was forced to take 18 months off all exercise. On starting exercise again one day I went swimming, suffered rhabdomyolysis and was hospitalised with CK of over 200,000 U\/L.\u00a0<\/em><\/p>\n<p><em>Interest from a nephrologist led to a diagnosis of McArdle Disease in 2008 and finally I knew the answer to all those long-standing problems. I sought advice from other patients and gradually built up my fitness again. In 2010 I joined others in the \u201cWalk over Wales\u201d \u2013 32 days, 340 km and numerous mountains. By walking with others I learnt about the dangers, how to recognise the signs of cramping, and about the techniques that can be employed. I now play ice hockey (with frequent breaks), practice yoga and am running again. My McArdle\u2019s is a nuisance, but I can adapt and keep fit.<\/em><\/p>\n<p><span style=\"color: #800080\"><strong> DA, age 22, Torrej\u00f3n de Ardoz (Spain).<\/strong><strong><em> PYGM<\/em><\/strong><strong> genotype p.R50X\/p.R50X.<\/strong><\/span><\/p>\n<p><em>I have McArdle syndrome, as well as septo-optic displasia and multiple hormone deficit. I fatigued easily during exercise in my childhood, but my teachers didn\u2019t give it much attention. The first medical evaluations revealed that my CK levels ranged between 50,000 and 75,000 U\/L. Upon diagnosis of McArdle Disease (some 6 years ago), I was clearly told by my clinician to refrain from exercise unless I wanted to end up in a wheelchair.<\/em><\/p>\n<figure id=\"attachment_4097\" aria-describedby=\"caption-attachment-4097\" style=\"width: 190px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"size-full wp-image-4097\" src=\"https:\/\/blogs.bmj.com\/bjsm\/files\/2012\/11\/mc-6b.jpg\" alt=\"\" width=\"190\" height=\"253\" \/><figcaption id=\"caption-attachment-4097\" class=\"wp-caption-text\">With my recent blue belt in Kajukenbo<\/figcaption><\/figure>\n<p><em>Thanks to the support and advice of a sports medicine specialist (with an expertise in exercise physiology), I started to follow a physically active lifestyle. I pedal on a cycle-ergometer for about an hour every day and I practice a martial art (Kajukenbo) with some success. I don\u2019t experience dark urine and have no limitations during daily living, and my VO<sub>2 <\/sub>peak keeps going up. I take a sports drink before martial arts training sessions, because they are quite hard work. My dream is to become a Paralympic athlete, and I would like to let McArdle patients know how much they can benefit from exercise. I would like people with this and other rare disorders to use sports activities to help them become more socially integrated.<\/em><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>By Dr. Alejandro Lucia and Mr.\u00a0Andrew Wakelin In this guest blog, we present self-reports of exercise accomplishments by McArdle patients.\u00a0Glycogenosis type V (glycogen storage disease type V [GSD V], McArdle disease or myophosphorylase deficiency) is a relatively rare (e.g. prevalence of ~1\/167,000 Spanish people) disorder of skeletal-muscle carbohydrate metabolism inherited in an autosomal recessive manner. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/bjsm\/2012\/11\/26\/mcardle-olympians-lessons-from-patients-own-experiences\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1,188],"tags":[],"class_list":["post-4091","post","type-post","status-publish","format-standard","hentry","category-uncategorized","category-guest-posts"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>McArdle Olympians \u2013 lessons from patients\u2019 own experiences - BJSM blog - social media&#039;s leading SEM voice<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/bjsm\/2012\/11\/26\/mcardle-olympians-lessons-from-patients-own-experiences\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"McArdle Olympians \u2013 lessons from patients\u2019 own experiences - BJSM blog - social media&#039;s leading SEM voice\" \/>\n<meta property=\"og:description\" content=\"By Dr. Alejandro Lucia and Mr.\u00a0Andrew Wakelin In this guest blog, we present self-reports of exercise accomplishments by McArdle patients.\u00a0Glycogenosis type V (glycogen storage disease type V [GSD V], McArdle disease or myophosphorylase deficiency) is a relatively rare (e.g. prevalence of ~1\/167,000 Spanish people) disorder of skeletal-muscle carbohydrate metabolism inherited in an autosomal recessive manner. 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BJSM blog - social media&#039;s leading SEM voice","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/bjsm\/2012\/11\/26\/mcardle-olympians-lessons-from-patients-own-experiences\/","og_locale":"en_US","og_type":"article","og_title":"McArdle Olympians \u2013 lessons from patients\u2019 own experiences - BJSM blog - social media&#039;s leading SEM voice","og_description":"By Dr. Alejandro Lucia and Mr.\u00a0Andrew Wakelin In this guest blog, we present self-reports of exercise accomplishments by McArdle patients.\u00a0Glycogenosis type V (glycogen storage disease type V [GSD V], McArdle disease or myophosphorylase deficiency) is a relatively rare (e.g. prevalence of ~1\/167,000 Spanish people) disorder of skeletal-muscle carbohydrate metabolism inherited in an autosomal recessive manner. 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