What is McArdle’s Disease?

What is McArdle’s Disease?

McArdle’s Disease is a metabolic disease affecting skeletal muscle. It is also known as Type V glycogen storage disease.

An Overview of McArdle’s Disease

McArdle’s disease is a rare muscle disease affecting approximately 1 in 100,000 people. Because their muscles cannot properly metabolize energy, individuals with McArdle’s disease may experience fatigue and failure during strenuous activities like jogging, swimming or even walking. These episodes can result in painful cramping injuries that require medical attention. McArdle’s disease is an inherited condition, and is caused by a missing or non-functioning enzyme needed to make glucose for energy. While this condition imposes significant physical limitations, it is not directly life-threatening and with the proper precautions and lifestyle management, people who have McArdle’s Disease can live healthy, active lives.

About This Website

This website, mcardlesdisease.org, has been created to increase awareness of this rare condition. This site contains two types of content: general information and links about McArdle’s disease, and McArdle’s disease blog articles from individuals with the disease describing subjective experiences with the condition.

408 thoughts on “What is McArdle’s Disease?

  1. Jonah

    Hey all. I would like to enquire – what organelles are involved in McArdle’s disease? Lysosome and ribosomes?

    Reply
  2. Debbie

    Hi Karenne,
    That’s called the “second wind phenomenon”. If you stop and rest at the first sign of stiffness or pain, you can usually continue on without any trouble. Every spring when I start walking at the track, I have to stop the first four or five times that I go, then after that I have found that I can go and walk without ever having to stop. I guess I just build up a little tolerance. But I’ve done activities where I didnt’ stop and the pain was unbearable.

    Reply
  3. Karenne Taffinder

    Hello everyone! I’m a 53yr old who was diagnosed about 10 yrs ago with 2 gene McArdles syndrome. I’m from Melbourne in Australia. Unlike my brother I haven’t been hospitalised. I’m wondering if anyone else may have found that when they walk and the knees start to ache if you stop and rest until it eases up and then continue walking the legs are a lot better and depending on my fitness level at the time, I can even continue walking with no more aches. I know that if I don’t stop and rest before my legs get too bad, then they will lock up. The muscles in my thigh and calves swell and become so tight that I can’t bend my legs and have had to fall back onto a chair. (Major pain) I’ve had to massage the muscle and when it eases a little physically lift my knee with my hand allowing the heel on the floor to slide back a little and then the muscle in the thigh is so tight again I have to massage it again and wait for it to ease up again before I can slowly move it a bit more. I keep doing this until I can bend my knee to a right angle and sit properly. For the following 2-3 days I’m stiff and sore and i keep drinking a lot of water.

    Reply
    1. Lauren

      Hi Karenne! I know this is a long time between postings!! I also live in Melbourne and am a chinese energy practitioner. My Dad also has McArdles and I have found a method of treating him that has made an enormous difference to him being able to have a higher quality of life and dramatic reduction of symptoms. I have so much information that is out side of the normal management approach. Let me know if you would like to get in touch.

      All the best.

      Reply
  4. Nick

    Hello All,

    I’ve known about my McArdle’s since the age of 20 previously thinking I was just unfit, up until that point I had just assumed everyone felt the cramping in their muscles during/after exercise. A bout of myoglobinuria and muscle cramps following a intense period of exercise spurred me to investigate further and I came up with the McArdle’s diagnosis. I had the diagnosis confirmed by muscle biopsy two years ago (when I was 24) following an admission into hospital with kidney failure and a CK level in excess of 250,000.

    Since then I’ve been keen to experiment with new lifestyles and diets in a bid to minimise the impact the condition has on my life. Following a range of unsuccessful diets (most notably the high carb diet) I tried a very low/zero carbohydrate diet and have found this to be very successful for me. When combined with a gentle warm up until the ‘second wind’ phase kicks in, it allows me to enjoy sports including snowboarding, cycling, golf, swimming etc (albeit at a very gentle level). I have read from some previous posters that simple carbs can be introduced without being too detrimental and I plan to try this after I get back from a snowboarding holiday….

    Reply
  5. Val

    Hello All,
    I’m just now under going some tests for I too, have been feeling all the symptoms everyone is feeling, except, after a long, sometimes short walk I get a shortness of breath and my calf’s feel like they are 200 lbs each and burn like their on fire. I also noticed after a long hot shower, I can put on cloths and reach down and tie my shoes a lot easier. (that only lasts for about 5 to 10 mins though). I plan to use a hot tub, and then take a long walk to see if I can walk a short distance without leg pain after. Is anyone experiencing this as well? I can’t even hold a phone on my ear with my shoulder anymore cause of the pain. This is my first post here and I hope I am not out of line in asking these questions.

    Reply
  6. giuliano dal zilio

    @Clayton Blake
    my name is Giuliano, I live near Venice in Italy. I’m 53 years old.
    I have had mcardle disease since I was a child. I would like to know if there are any new treatments for this disease as I really have severe pain especially during this period. thanks

    Reply
  7. tom

    hello
    In 1994 a muscle biopsy had determind that I have mcardle’s. today Im 44 years old. feeling fatigue an feel numbness to my left arm an weekness to my legs. I dont even have energy. Iv’e seen doctor benstead in halifax about 6 years ago. he recommend for me to take creatine which may help to boost some energy for me. I been taken this creatine powder for approx 3 years an just got sick of it. I don’t know if there’s any other suppliments that someone can take to help boost your energy an feel abit stronger. I guess with a neuro muscular disorder it’s difficault to feel strong.

    thank you

    Reply
  8. Site Admin Post author

    Hello Miguel. Please read this website’s disclaimer just as a friendly reminder that there is no substitute for professional medical advice. Regarding developing muscular mass as a way to mitigate the cramps of McArdle’s disease…there are few if any studies on this. There is at least one study that suggests that diligent cardiovascular exercise improves symptoms. The lower body is where most people have more muscle mass, since your legs carry your weight. Attempting weight training when you have McArdle’s disease is very tricky because of the risk of failure-related injury. Don’t attempt any sort of upper body strength training without a slow, extended low-impact warmup period for those muscle groups; i.e., no amount of treadmill jogging will properly prepare your upper body to try push-ups safely. In general, anyone who can who enjoy some level of cardio and strength training stands to receive health benefits, even and perhaps especially with McArdle’s disease. The only difference is that we have to be a lot more careful getting there and work within our respective limits. Seek the advice of a physician and perhaps discuss these points. Be careful and be well.

    Reply
  9. Miguel

    Hi. I was diagnosed when I was 17. I just needed a few neurophysiologic test as my mom was diagnosed he previous year ( age 44 or so) by muscular byopsy. I always had severe fatigue and cramps and the myogobine in urine after the cramps. However I never had such a severe episode when I am impaired of my ability to walk. I had los the use of my fingers and my armas for a few hours though. Reading your comments I wondered if developing muscular mass could help the cramps in a certain way. I lived from age 3 to age 18 in a 4th level without elevator and I do have unusually developed ( sort of disproportioned) legs while I am kinda skinny in the uppper body…

    Reply
  10. Site Admin Post author

    Hi Debby & Scott. Many physicians are still in the dark about McArdle’s disease. This page contains a small list of physicians who have a great deal of experience studying and treating this disease. If they can’t treat you directly, perhaps they can refer you to someone. I would also seek a second opinion, since symptoms like muscle failure – particular doing something as simple as holding a phone – may have other causes. Find someone with experience treating this disease, or otherwise have a second neurologist rule out McArdle’s disease. They can do this with an ischemic forearm test that is far less invasive and painful than a biopsy. Best of luck.

    Reply
  11. Debby/Scott

    My husband, Scott, was diagnosed with McArdle’s just yesterday after 2 years of not knowing what was happening. He had muscle failure with the simplist movements/tasks. At times, he even had problems holding the phone. The nuerologist that diagnosed him only after us insisting he did the muscle biopsy, only wants to continue to see him because “he is the only McArdle’s patient he has ever seen”! He hasn’t given us any direction as to where to go from here. We live on the Northshore of Boston. We would like to see a specialist, but don’t now where to start??????
    We have gotten alot of info from the blog, what has help other people, things to try, but what type of physician should we be consulting??
    Thank-you, Debby and Scott

    Reply
  12. Yasar Ayub

    Hi Kimberly. Thank you for your post. I just wondered if you had any more information about the gene therapy research that is taking place?

    Reply
  13. Site Admin Post author

    If you have McArdle’s disease, anaerobic activities can indeed cause serious muscle injury. Please consult a physician before undertaking a diet high in simple sugars, because the hypoglycemia that sometimes follows that “sugar spike” can make symptoms appear a lot quicker, while also potentially introducing other health problems. Also, be encouraged by the study showing the benefits of cardiovascular exercise on an individual with McArdle’s disease. It suggests that a disciplined regimen of walking and jogging along with a specific diet may improve exercise capacity.

    Reply
  14. Kimberly Cavanah

    @Stephanie
    Stephanie as mentioned by a lady who posted earlier(Tammy quote#4) I never felt so good as when I was pregnant with my two children. I was diagnosed with two muscle biopsies when I was 26 shortly after the birth of my second child. I was devestated and realived at the same time. I was not the lazy child that everyone had always assumed and told me that I was. I have learned throught trial and painful error what my limitations are and try to live within that knowledge. I have tried Yoga, Tai Chi, swimming and walking all of which cause me pain and muscle degeneration. I have had several brushes with complete renal failure. The worst was when my CPK level went to 93,000. That happened after I pulled one of my dogs off of the other one when they were wrestling too agressively with one another. I never had an episode when I was pregant though. I have discovered that eating a couple of handfuls of skittles about 20 minutes before I walk into my work keeps my legs from burning(I drink about 3oz. of orange juice with 2 heaping tsp. of sugar if I don’t have the skittles)also when summertime hits I eat a bowl of watermelon in the mornings it works the best of everything. I have a 3/4 mile walk into my desk and two flights of stairs to go up every morning and am up and down the stairs many times during the day. I probably walk 3 miles at work all totaled. I am keeping my eye on gene therapy that is taking place now and would love to be a part of it when it is offered for human trial. You will notice that winter time is the worst for McArdles patients. My muscles naturally tighten(as do most people, normal or not)with the cold weather shivering doesn’t help it is like a work out on top of whatever work out you are getting by just walking or balancing on an icy parking lot or sidewalk. I notice that my instances of myoglobinuria are more frequent in the winter time. I admire the people that are still able to do athletic things. I just caution them that whatever muscle wasting they are causing by do any type of anerobic activity does not come back. Once it is gone it is gone forever.

    Reply
  15. Scott Panter

    I was diagnosed with McArdles Disease @ 25 years of age. I am now 60. I have had muscle issues all my life. I have been a part of several studies over the last 35 years and very little information or insights have come from these studies. I was also diagnosed with Macular Degeneration at about 31 years of age and some thoughts were given to the two deseases being related in some fasion. One retina specialist at Emory University did a study of my family and found no other family member with simular simtoms. My eye site is OK but I do have pigmentation that causes night blidness to some degree. The Doctors thought that during an McArdles episode the “trash” in my blood streem caused the pigmnt problem i=on my retina.

    I have been a bicyclist for more than 25 years and have found it is the best exercise for me. I have riden over 100 miles several times will little problem if I watch what I am doing.

    I have just found this web site today. Thanks for the outlet.

    Scott

    Reply
  16. Cynthia

    We just recently found out that my nephew has McArdles Disease. He also knew something was wrong since he was a child and couldn’t keep up with the other children. He always kept this to himself, but when he pulled a muscle and had to use pain killers just to function, and brown urine he decided to tell his mom. He is now in his 20’s and as I write this he is in the hospital. He was given a paper from the doctor stating to be filled with fluids as soon as he arrives at the hospital. They did do this, his CPK’s were 49,700 when he arrived at the hospital and went to 51,400 after given the fluids. After 2 days in there it went down to 20,000 but shot back up to 40,000’s when he got out of bed to get dressed. Can someone please explain to me what CPK’s are and why these are still so high? I love my nephew so much and want to help him in any way I can and your website has helped me alot, but I am not sure about the CPK’s. Should he be on some medicine or something? Thank you for any info.

    Reply
  17. christyallan

    June :@Alex I’m especially interested in anyone who has been pregnant and how their McArdle’s affected that experience.

    Hi i’m new 2 this site have been diagnosed with McArdle’s since 1996 @ 21 now 33yrs. I just read your post and i was pregnant in 06 had a little boy in june 07, pregnacy was fine, ate what i liked, don’t do much exercises. I had a sharp pain the day i was due to have him, went to hospital and was only 1 cm dilated kept in 4 a few days then told to come back, so a wk over due i went into hospital to be induced. I had gas & air then an morphine, then epidural, personally i still had a fair bit of pain. My son was born after 12hrs 17mins yes i must admit it was sore had to push my legs startes to sease up a wee bit was told my doctors to push i said that i needed to hold on 4 just a min 4 my legs and she said no due to him needing to come out and put me in stirips, this is when my legs hurt the most then finally he was out and all was ok and i thought thank god for that. I was fine managed to have a shower and then up 2 the ward. My advice would be to talk to your Dr when your pregnant and let the midwife’s and everyone know about it and get them put in the notes to speak to the people whom will deliver so they are aware e.g. the person that gives the anethsetic etc.
    Good luck responses are welcome this was just my expereince.

    Reply
  18. Christopher

    Thanks for the info guys, I will look at the Yoga in the next couple weeks and kinda take it easy going from there. I will keep you posted. Thanks!!

    Reply
  19. Allison

    I am so excited about this website. I was diagnosed with Carnitnine Deficiency when I was eight but never felt like it all made sence. I never had any test to prove that I had it. I have taken L-Carnitine since then but recently stubbled across McArdle’s. I was amazed and felt like I was reading my whole life story. As far as I can remember I have had exersice intolerance…I couldn’t even walk around my own house without taking a rest. My mother says that I would stop and squat even as a toddler when I would get tired. I have always craved sugar when I would get into these episodes and found that if I at sugar I would feel much better. I would have to say that the calf cramps are my key sign that I need to slow down and if I don’t I can also throw up and then my vision changes to black with lights. I have had cramps in my jaw from eating and even in my neck if I turn to look out the back of the car when driving. I haven’t been diagnosed yet, but have already taken the genetic testing and am just waiting for the results. I appreciate all of you taking the time to write your comments down..for those of us that have known there is a problem and haven’t had a diagnosis it helps to know that there could be one and without you all sharing I may have never stumbled upon a diagnosis to help the doctors find what was wrong with me. I am a 30y female that has been searching for my whole life for answers…I think I might have found them. I did want to make a comment on pregnancy…I have four little boys and when I was pregnant I was tired the first few months which is normal but then I felt better then I ever have and immediatly after the babies were born I could lose weight and exersice for about 6 months better then ever…then after that I seemed to go back to the way I was before.

    Reply
  20. S. Reason

    It is through forums such as this that knowledge will be disseminated – slowly, but surely – just like us!!

    Reply
  21. Debbie

    My name is Debbie and I am 46. I have had McArdles since I was a small child but was not officially diagnosed until 11 years ago. I have always tried to watch my activities. This June my boyfriend and I walked 1/2 mile straight uphill to the top of Clingman’s Dome in the Smoky Mountains. It took me FOREVER. The next day, I was sick with vomiting, cramps, fever, and had to spend a day of my vacation in bed. Then just recently in November, I fell and broke my left kneecap while on Vacation in California and got back home and had to have surgery. I am frustrated at my progress to bend my leg because of my muscle weakness in my quadriceps. Neither the doctor in the ER in California or my orthopedic here in Arkansas have a clue what McArdles is. I get so frustrated. It helps me knowing that there are others like me.

    Reply
  22. Luke Post author

    Christopher – almost anything, including yoga, can cause rhabdomyolysis. People with McArdle’s disease can hurt their muscles doing the most mundane activities healthy people take for granted, like carrying a child in their arms, or craning their neck to look at something, or even crouching in an uncomfortable position.

    I don’t want to make it sound like anyone with the disease should avoid physical activity, however, because a sedentary lifestyle may present the biggest threat of all. An inactive lifestyle with little physical activity acclimates the body to having no demands placed on it, which only increases the risk of muscle failure during what should be “normal” activities. Avoiding injuring your muscles demands a vigilance that is itself very fatiguing, and you often don’t realize you’re in any danger until it’s too late and the damage is done.

    Here’s a link to a study on the benefits of cardiovascular exercise in McArdle’s disease. The website requires free registration to view the full research PDF, but it is encouraging data.

    Reply
    1. Patty Smith

      I’ve been trying to find out what is going on with me for over 2 years. If another doctor tells me I need therapy or a psychiatrist I might lose it. Tons of bloodwork and specialists, still nothing. Mayo clinic found that it’s not neurological. I just turned 50 and they all associate it to hormones. My tests all come out normal. Spending money I don’t have and still know nothing.
      I’m experiencing fatigue, loss of strength and rapid muscle loss. My skin is loose because of the deteriorated muscles. I am unable to build muscle, if I can find the energy to exercise. Sometimes getting through the day is all I can manage. If I am active and do a lot it wipes me out for a few days.
      Does this sound like the same thing? Thanks

      Reply
      1. Site Administrator Post author

        Patty, apologies for the delayed reply. It’s hard to say what your condition is. Doctors can search for years and come up with many different diagnoses for any disease, especially one whose symptoms are as subtle as McArdle’s. You might mention your condition on the Facebook Group, as there are people chiming in daily and someone may find your story familiar. Best luck!

        Reply
  23. Stephanie

    Hi Christopher, i have tried yoga many times and finally gave up on it. I felt too awkward sitting out the “bad” poses and stopped yoga. The Warrior pose is one of them. It requires you to be in a prolonged squat. That has caused some of the worst episodes for me and put me out of commission for three days on end, each time. I’m sure there are some McArdle’s sufferers who can do it, but I would be very careful. On the other hand, some of the stretching exercises in yoga have been wonderful for my flexibility and loosening of muscles. I often miss it, but right now swimming (breast stroke and back stroke, mostly) as well as walking (or the elliptical machine) have been the best exercises for me.

    I have read on another message board that women with McArdle’s have felt their best during pregnancy because the fetus supplies them with the enzyme they lack. Is there any literature on this? Can anyone tell me more? What were you able to do, that you couldn’t do before?

    Reply
  24. HayleyJ

    Victor, my name is Hayley and I was diagnosed with McArdle’s about 4 years ago. I am 18 and have been able to control the symptoms with moderate excercise and an amino acid called Alanine. I was diagnosed after a muscle biopsy. I have had symptoms all my life but my doctor’s said that I was just lazy and that I would grow out of it. When I was fourteen I was hopitalized with rhabdomyolysis and acute kidney failure. My doctors were terribly confused becuase most cases of rhabdo are in people who do heavy labor on a daily basis. As for your pain I also have severe pain in my thighs, calfs, upper arms, and lower back. When I am hurting I try to strecth lightly and take children’s ibuprofen. Also I have found that drinking plenty of water and staying away from caffiene helps to keep my muscles hydrated and reduces the pain. As for the exercise you might try walking for 10-15 min. at 1.2-1.5 mph. Make sure you don’t over exert yourself though. I am being treated by the formost McArdle’s specialist in the world, Dr. Alfred Slonim. He is based in New York. If you would like to contact him just type his name in on Google and his contact information will be on one of the sites, not sure which one though. Keep me updated and I will try to help as much as possible.

    Reply
  25. Christopher

    I am a 37yr old male and was diagnosed 17yrs ago after a two week stay in the hospital. I was glad to know that I wasn’t just lazy after dealing with the symptoms since the age of around 5 or so. It’s nice to see this website up because back then there was little to no information on this. I have figured out by trial, error and a lot of pain what I can and cannot do over the years so I want everyone to know that we still can have an active life. I won’t tell you that it’s still not frustrating when people look at this 6’4″ 275lb man and wonder why he can lift weights or run around and a pain the the you know what dealing with it, but we can do it. I did a 5k run/walk or should I say walk/jog last year, pulled an airplane for United Way (I STRONGLY advise against that one!) and recently joined the YMCA. I have learned to take it easy and let all those around me know that I have this condition that requires me to take it slow. Only my 4yr old daughter doesn’t understand why daddy has to go so slow! 🙂 My 15yr old son knows about and understands (he still can’t beat me in a game of 1 on 1 basketball.) Anything that requires a burst of speed (ie baseball) or strength, stay away from! I still hike, but I go very very slow if going uphill, taking rest breaks along the way and use a big stick to help me walk. When riding my bike, I try to stay away from hills or I walk the bike to the top otherwise on flat surfaces I just again, GO VERY SLOW. If i get in the pool, I just play around because swimming uses more muscles that I originally realized. For basketball I don’t run a full court game, just half court and I stay away from the young guys who think they are Jordan! The treadmill is where I get most of my exercise. I found this site looking into the “Sucrose intake” and the B6 supplements before exercise to help me but I’m not sure which direction to go. I am not a doctor, don’t play one on tv and didn’t stay in a Holiday Inn Express last night. I just have had a lot of experience dealing with this. Hope it helped.

    Reply
  26. Denise i Frias

    I’m a 33yr old mom of 2 boys I had my boys at a very young age before I knew I had McArdel’s I wasn’t diagnosed til 2yrs ago Its been kinda scary knowing something is wrong wit me I’m especially concerned now abt haveing more children but I just try to be mindfull of what triggers this illness&avoid it as much as poss. but do eat a lot of sweets so that I find gives me the extra energy I need…

    Reply
  27. Victor Kowal

    Found your website while searching for info on McArdles. I’m 48 from Sydney Australia and have been diagnosed with a glycogen storage disease from a biopsy 3 months ago which showed vacuoles in the tissue. The doctor has diagnosed McArdles subject to a ischemic forearm test to confirm.
    I have constant pain in my calves, thighs and upper arms. Can anyone advise if this is symptomatic of this disease? The pain never fully goes away and is getting debilitating. Painkillers only work so much. Is there anything that can help to keep the aches at a bearable level.

    Reply
  28. Brandi Lightsey

    @Clayton Blake
    Clayton, I was diagnosed at age 24 by Dr. Ronald Haller in Dallas, Texas. He is a Mcardle’s specialist and have completed 2 research studies with him. One in Dallas and one in Copenhagen, Denmark. He is associated with UT Southwest and Presbyterian Hospital.

    Reply
  29. Site Admin Post author

    Hi Janie, glad you found the site. Nope, you’re not alone and rather far from it.

    Hypoglycemia seems to be pretty common with people who have McArdle’s disease. Muscles are forced to look outside the cell for a source of energy, so blood sugar can drop abruptly. If you are aware of this and prepare in advance by having the right snacks with you (low-glycemic index foods like granola bars may be good) you can mitigate this by taking a break when you feel the onset of low blood sugar.

    Continue to visit this site and be sure to join the Facebook group (the link is on the righthand side of this site.)

    Reply
  30. Janie

    I have just discovered this site and am surprised there is such a one! It’s nice to know I’m not alone in the world.
    I was diagnosed in 1978 from a biopsy at Univ. of Md. Hospital. At that time I was the 2nd case in nine years. Several years ago I saw Dr. Slonim in NY. I have to say the results for me, were less than stellar. that’s not to say, it might not be helpful for others; I guess I had very high expectations.
    I have been reading people’s posts and noticed no one mentioned having an extreme amount of trouble with hypoglycemia. Mine can bottom out very quickly eventhough I eat a high protein diet.
    In high school I used to push myself to keep up in gym and walking to the bus etc. Beside the muscle rigidity and heaviness in my legs, I would begin to lose my vision and see bright swirling spots on a black background, which actually caused me to be unable to see where I was going. I would always be incredibly thirsty and after drinking would get very nauseated. I don’t push that hard anymore, so don’t have that trouble very often. I just wondered if anyone else had that problem.
    Also, does anyone else totally and completely stiffen up under stress…like having to run in an emergency? I have had the worst cases of myogloburnia afterward with extreme pain causing me to be hospitalized. It’s one of the worst parts of this whole syndrome…not being able to act in an emergency.

    Reply
    1. James bower

      I was diagnosis in 07 and been dealing with this problem for 10 years now , I think the older you get, the worse it gets, I too experince low blood sugar they tell me to eat 3 tablespoons of sugar a day , but it makes things worse for me, I feel like I have to lay down because I’m really tired , but it’s almost like I’m in a coma , I’m sleeping but can steal hear everything going on around me , for instance the tv or people talking . There is no specialist here in Kansas where I live , and I don’t think the doctors know much about it. I can do some yard work for about an hour , than that’s it for me for the rest of the day. This really sucks , any advice from anyone?

      Reply
  31. Shannon

    In an effort for those of you with McArdle’s to avoid complications when undergoing surgery, please get a MedicAlert bracelet stating you have a muscle enzyme deficiency. My daughter wears one all the time. You never know when an emergency will occur (car accident, etc) and I may not be able to get to her and she may not be able to tell them she has a muscle disease. The wrong anesthesia can kill McArdle’s patients. THIS IS VERY IMPORTANT!!!! Hayley had 3 surgeries before we knew she had this and we consider ourselves very, very lucky. When Dr. Slonim explained what could happen in surgery, it really scared us.

    Reply
  32. Shannon

    Thank you so much. I have shared this website with her. She has read the letters from others with McArdles and realizes they all pretty much share the same story. She went on to Facebook and joined the group. Thanks again. Is there any research out there for an enzyme replacement?

    Reply
  33. Site Admin Post author

    There is a Facebook group of people with McArdle’s disease, click the link on the righthand side of this page. Getting in touch with many other people who share similar challenges can be helpful. There does seem to be a lot of variation in the degree to which people experience difficulty. The symptoms of this disease are exacerbated by secondary factors like cardiovascular conditioning, general level of physical activity and lifestyle, diet, and hormones. Some people find it almost debilitating, but others are somehow able to remain active and the disease doesn’t slow them down too much, and there’s no explanation for it yet. First things first, join the Facebook group.

    Reply
  34. Shannon

    My daughter is now 18 but had her first flare of McArdles at age 14 with acute renal failure after a softball game. She has always complained with her legs hurting after walking short distances since the age of 2 1/2. The doctors would tell me she would grow out of it. Not to carry her, she would “toughen up”. She continued to dance-ballet, tap, and jazz, cheer, gymnastics, play golf and softball. Until this happened. This really limited her. She did continue her golf and softball career for a couple of years after this but it was such a struggle for her. She missed a lot of school because she was in and out of the hospital so much with such severe muscle pain. It effects her back, thighs, and calves mainly and when it gets really bad her upper arms. She had a muscle biopsy to learn she had McArdles and a year later we went to see Dr. Slonim in New York. He gave her an exercise regimen and started her on Alanine four times daily. I thank God for that man. I don’t know where we would be today if it wasn’t for him. Whatever you do, do not do the sucrose load before activities, please. That is the worst thing you can do. We did that for about a year before we saw him and we took some huge steps backward. My daughter has trouble sticking to her routine of exercise sometime and staying motivated. Is there anyone else out there like that? It seems that when she gets going really good, she ends up in the hospital again and gets upset about this and feels like it isn’t helping her situation. She also has trouble with vomiting alot with her McArdles. Does anyone else. This kind of threw Dr. Slonim off a little bit when she saw him. She does have one of the more severe cases he said. Winter (colder) weather is harder on her. Please, someone respond and tell me how I can keep her motivated. She is in college now and I don’t know whether she is really exercising daily or not. I am trying to get her to respond to a support group such as this, to be able to talk with others who have the same thing she has and experience some of the same things she has gone thru would be great for her I think. She says her friends really don’t understand her sometimes, why she feels like she does, but to “talk” to someone who does would be great I think. HELP!!!

    Reply
  35. S2

    Not too long ago I found out about this disease and I am pretty sure it’s what I have. I turned 20 this year but I’ve had the cramps after running at school athletic days since I was 13. And the cramps aren’t the type where you can stretch your muscles out, it hurts extremely if I even try to move or rub gently the affected area and when they come it hurts enough to give me a jolt. It’s great to finally find a name for something in which I have very similar symptoms to and read about all I can from all your comments. Thank you!

    Reply
  36. Site Admin Post author

    Allie – for your doctor to rule out McArdle’s disease they’ll likely do the ischemic forearm test or a muscle biopsy, both of which are described in item 3 at the top of this page, “Diagnosis of McArdle’s Disease.” This website contains links to other helpful McArdle’s disease websites which your primary physician may find useful. Best of luck.

    Reply
  37. allie

    I also suffers muscle cramps/back pain especially at my lower back since i was young but become worst this time (i am 37 yrs old now). There was an incident that i can’t stand up if i’m lying down. I can’t even move. My doctor just give me myonal and arcoxia… he also give me neurofenac- vitamins. How to check if i have this mc ardle disease. I want to exercise to trim me down but i am suffering from back pain. I can;t drive properly since my lower back is very painful.

    Reply
  38. Ben

    Tammy :
    I was wondering if anyone experiences greater fatigue, pain, and swelling during the summer?

    My symptoms always seem to be exacerbated by colder weather and my suspicion is that this is related to blood circulation. Blood circulation is inhibited by colder temperatures. Daily aerobic exercise(brisk walking) has helped me deal with this.

    Reply
  39. Stephanie

    Hi, I am a mum of a McAdles child albeit she is now 30yrs.
    To your question relating to energy in the summer months. Kerry has always functioned better when the its warmer(not very often in UK) in fact she lived for 2 yrs in Cyprus and I was amazed at all she could do there.
    Winter here is a completely differant matter. She struggles to the most basic daily tasks that us non McArdles take for granted. It makes me very sad.

    Reply
  40. Stephanie

    I’ve known all of my life that something was wrong with me. I was never able to run and walking uphill or upstairs was always difficult. The severe muscle cramp episodes that stay for three days and are excrutiating, started in my early 20s and have been getting worse ever since. I was diagnosed in 2004, after another painful episode in my thighs (after a yoga session) and focused research. Since then, just knowing what it is and understanding the bio-chemistry has been very helpful in dealing with the disease. Right now, my left foot is cramped up because I tried to wriggle my foot into a boot yesterday. I try to live life as normally as possible, but there are limitations. I’m also very interested in how sufferers deal with pregnancy. It’s so nice to be reading about other people’s experiences with the disease. Isn’t it frustrating how slowly the research is moving along? I really wish there was some more effective way to ‘loosen up’ the cramps…some more immediate relief. The pain is so bad that the strongest pain killers don’t work. Best of luck to all of you!

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  41. Tayler

    Tayler is my 17 year old daugher who has had bouts of episodes from playing High School Volleyball for the past year. She has had 3 episodes of extreme muscle cramping from head to toe. 1 of which sent her to the ER. She also had a seizure in Sept. She is unable to walk for anywhere from 24-72 hours depending on the length of the episode. We have just spent the last week at MAYO, and she will have a muscle biopsy probably sometime in January. McArdles disease is what they are currently looking at. Please keep writing as the above information is VERY helpful. Thanks, Jodie

    Reply
  42. Tammy

    I was diagnosed with MCArdles disease March of this year. I have struggled with pain and fatigue since I was 14. Being adopted no one knew what I had. In fact they thought it was depression. Finally, at age 37 I had a doctor who believed me and decided to do a muscle biopsy. This is how I was diagnosed. Its comforting to know I am not crazy and now I know how to deal with it. I have 4 children and dont have time to be fatigued. So I run regularly to keep my strength and energy up. As far as my pregnancies and McArdles the first trimester I was extremely fatigued after that I felt better than I can remember.
    I was wondering if anyone experiences greater fatigue, pain, and swelling during the summer?

    Reply
    1. Christine

      Dear Tammy,

      hi, I am Christine. I am new here and have not been diagnosed with McArdles disease, but have struggled with basically all of its symptoms (luckily not renal failure!). I have had swollen, hypertrophic thigh muscles since I was a child. The older I get, the more severe my “symptoms” seem to be getting. I am basically a very active person, and engage in regular exercise, meaning my body is used to moderate training mainly oxidising fat. However, I have always felt that especially strenuous exercise really was not working for me. I always get the sensation as if my muscles would explode within seconds of heavy exercise. A very uncomfortable feeling accompanied by massive swelling and lots of water accumulation would persist after exercising and would not go away, irrespective of what I do. The only thing that seems to be helping right now is cutting down on carbs as this would reduce the glycogen content in the muscle. I have been doing this for about 10 days now, and was able to feel the positive effect from about day 3 into the diet.

      Having said all this, I would now like to answer the question you asked. Interestingly I have observed exactly the same in me as you describe. I was always wondering why my muscles would swell and feel so heavy especially in summertime, irrespective of how much water I drank. Normally exercise is recommended to balance the body’s water retention and to improve this discomfort. But for me this only made things worse.

      So, like I said, I am nowhere near a diagnosis, but I feel so close to (nearly) all of the symptoms described. I have been desperately trying to find a reason for my incredible muscle pain and swelling and for simply not being able to adapt to exercise. I go from one painful episode to the next and my muscles simply don’t seem to be recovering by any means. I can only say that for now cutting down on carbs has helped a lot with my muscle pain. So, it might be worth giving it a try!

      I hope my answer (although it was delayed by approx. 8.5 years) was helpful!

      All the best to you!

      Reply
    2. Frederick Gassmann

      I have been tentatively diagnosed with McArdles Syndrome 2 months ago. I had been diagnosed with idiopathic Rhabdomyolysis when hiking alone in the Adirondacks. I will spare details of the experience just that it has been challenging these past 14 years not being correctly diagnosed. Regarding the summer months I find I am intolerant of heat and will easily overheat with mild activity. I can only report that I am far more fatigued during the summer months than I am during the cooler months. Your question about increased fatigue during the summer is a good question and worth exploring further. I asked my PHP that question and many others and he did not have an answer. That being said I will see what I can come up with regarding this question and any information I can find. Body temperature regulation appears to be a symptom that can be addressed with self wicking fabrics, wearing a cooling cravat around your neck. Walmart and online retail stores sell a self cooling scarf that might bring some relief. I find modifying the time of day I do gardening or walking to the early morning or evening to be helpful as well as hydrate, hydrate, hydrate.

      I hope this is helpful.

      Reply
    3. Nancy

      Hello! I am just figuring out why my muscles tire and hurt after exercise: McArdle’s! The heat and humidity make much worse, so I love living in the desert! However, there aren’t any Hippocratic physicians here who will take the time to make difficult diagnoses. HMOs and government medicine discourage referrals to specialists for rare diseases. High taxes here prevent saving money to pay cash for needed services. If you are on a government plan like Medicare, even more barriers to care! Insurance companies like Kaiser and certain political parties encourage abortion and euthanasia for people with genetic conditions! I’m not dead yet!

      Reply
  43. Clayton Blake

    I was diagnosed with McArdle’s Disease 2 years ago at 25. In 2003, did my morning exercise routine and woke up the next day unable to move. Spent 2 weeks in the hospital on that trip then had another episode in 2005. This time spent 3 weeks in the hospital, same symptoms. Doctors diagnosed me with chest wall pain accompanied by rhabdomylosis which didn’t fit. After talking to a neurologist and numerous doctors visits, the right diagnosis was made. Any one know of a research group for people like us?

    Reply
  44. June

    @Alex
    If you are anything like me, you’ve always known something was wrong but all the doctor’s thought you were nuts or lazy. I was finally diagnosed this year when after a few minutes of riding my bike, my legs swelled massively and I began urinating a very dark brown color. I went to the hospital and my kidney’s had failed. I was in the hospital for 2 weeks and also had dialysis for 1 week. I’m 26 and am relieved to finally have a diagnosis to be able to tell people what is actually wrong with me. I’m looking for a support group to be able to talk with people like me. I’m especially interested in anyone who has been pregnant and how their McArdle’s affected that experience.

    Reply
  45. Alex

    Im 21 and was diagnosed with McArdle’s disease last year. I was wrestling around and after I couldnt move. I layed in bed for 4 days without my kidneys working. I went to the hospitol and i had complete reno failure and rabdomylosis. I was in the hospitol for 3 weeks and went threw 2 weeks of dialysis. The doctors told me i had mcardles disease.

    Reply

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