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
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.
Living with McArdle’s Disease
People with McArdle’s disease can abruptly run out of energy doing things like walking up stairs, jogging, carrying things - or even chewing food. Because people with McArdle’s often appear healthy, the disease has historically been frequently mistaken for poor physical conditioning or an unwillingness to exercise. The fatigue associated with McArdle’s differs from normal exercise fatigue both chemically and in the way it manifests, as muscles may simply stop responding if pushed. This failure occurs because the muscles of an individual with McArdle’s disease cannot metabolize energy properly.
In McArdle’s disease, the enzyme responsible for supplying muscles with glucose for energy, muscle phosphorylase, is missing or defective. The following images (based on modified images taken from this web page) illustrate how muscles run out of energy in McArdle’s disease.
| Normal Muscles | McArdle’s Disease |
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| 1. Acetylcholine is released from a motor nerve. This causes an entry of calcium into the muscle cell.
2. Calcium activates phosphorylase kinase - the first protein kinase discovered by Fischer and Krebs. 3. Phosphorylase kinase phosphorylates phosphorylase, which is activated 4. Glycogen is broken to glucose. This is used to generate ATP 5. The muscle works and requires energy in the form of ATP 6. The muscle contains muscle cells 7. Contractile proteins in the muscle are activated by calcium |
1. Acetylcholine is released from a motor nerve. This causes an entry of calcium into the muscle cell.
2. Calcium activates phosphorylase kinase - the first protein kinase discovered by Fischer and Krebs. 3. Phosphorylase kinase phosphorylates phosphorylase, which is missing or otherwise non-functional 4. Glycogen is unable to be broken down, creating glucose (and ATP) shortage. 5. Motor proteins attach to muscle fibers require ATP for movement. 6. Muscles stop responding in absence of ATP . 7. Because ATP is required to both contract and relax muscles, injury can occur. |
| The illustration on the left and accompanying explanation are taken from material from the 1992 Physiology or Medicine Nobel Prize Poster displayed on this web page. Credits for that poster are here. The image at right is based on that illustration. | |
Contracting muscle cells require large amounts of glucose to create the ATP energy for muscle contraction during strenuous activities. Because glucose cannot be provided quickly enough, muscle cells abruptly run out of energy.
McArdle’s Disease is an “Energy Bottleneck”
In McArdle’s Disease, the metabolism of glycogen to glucose does not take place. Because the concentration of glucose in the cell becomes the limiting factor in the formation of ATP needed for muscular contractions, a bottleneck occurs, called “glycogen debt”. This is similar to what a marathon runner may experience after 20 miles or so, when their leg muscles are completely depleted of glycogen and stop responding.
ATP powers the concentric and eccentric movement of muscle fibers (contracting and relaxing movements), which is illustrated in a video here of the sliding filament model.
When working muscles run out of energy, this results in a very rapid and abrupt onset of fatigue. Any moderate to rigorous physical activity; running, jumping, squatting, walking up stairs, carrying heavy items, swimming and more can result in a failure episode. Injury and damage to muscle tissue can occur as a result.
McArdle’s Disease and Muscle Injury
In addition to premature fatigue or muscle failure during exercise, people with McArdle’s disease are susceptible to muscle injury. The exact nature of this injury has to date not been described, but may be related to eccentric force being placed on “cramped” muscles. The resulting damange to muscle tissue from McArdle’s disease is known as rhabdomyolysis. (Myolysisdescribes muscle breakdown with resulting release of contents into the bloodstream.)
Rhabdomyolysis and associated myoglobinuria (brown urine) can result from damaged muscle tissue, causing pain, weakness and swelling. In addition, damanged muscles spill iron-rich proteins into the bloodstream where they pass through the kidneys into the urine, which can cause renal failure and thus requires medical attention.
Help Make This Website Better
If anyone with information about this disease wishes to contribute, your help is welcome and greatly appreciated. We can use both anecdotal blog content describing subjective life experiences with McArdle’s disease. If you are a physician and would like to correct or amend some of the descriptions, please write us.
Additional links on this page’s topic:
- Breakdown of Glycogen to Glucose - 1992 Nobel Prize Explanation
- What is McArdle’s disease? NetDoctor UK definition)
- What is McArdle’s disease? (Muscular dystrophy campaign)
- What is McArdle’s disease? (Additional MDA information)
- McArdle’s disease (Glycogen Storage Disease Type V, AGSD UK definition)
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.
@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.
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?
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?
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
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!
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.
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.
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.
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.
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!
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!!!
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.
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?
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.
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.
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.)
@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.
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.
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…
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.
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.
http://mcardlesdisease.org/experts-on-mcardles-disease/
Has anyone tried yoga or heard if that will cause an episode of rhabdo?
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?
Stephanie - http://mcardlesdisease.org/mcardles-research/mcardles-disease-and-pregnancy/ is a page with a link to a pregnancy case study. I have yet to come across a study on McArdle’s disease and relief from symptoms due to fetal expression of glycogen phosphorylase, but am very interested to read about this.
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.
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.
It is through forums such as this that knowledge will be disseminated - slowly, but surely - just like us!!
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.
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!!
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.
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.
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
@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.
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.
I wondered if anyone has tried supplementing with ATP?
http://www.progressivelabs.com/documents/ATP%20Plus.pdf
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?
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
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.
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…
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.
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
@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
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.
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….
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.
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.
Hi Debbie, Thanks for that I think I need to do a lot more reading.
Hey all. I would like to enquire - what organelles are involved in McArdle’s disease? Lysosome and ribosomes?
Hi Tom. My name is Ruth and I am 51 years old. I was diagnosed with McArdle’s Disease in 2006, when I was 48, after I fell in the night and was hospitalized for 8 days. My CK level was 40,000 and my kidneys were ok, thank god. I have seen my neurologist a number of times and she suggested that I do a very low/zero carb diet. The geneticist that I saw, put me on creatine too but I too stopped as I felt it was doing no good. The creatine made me perspire really bad. However, what she did do is put me on vitamins B12 and B6. They have helped a lot with my energy levels. Maybe this will help you too. The strength is B12 (100 MCGM)1 a day. B6 (50MG) 1 a day. It is Jamieson Brand as well. She said it is the best brand to use. I hope this helps.
@Clayton Blake
@giuliano dal zilio
@giuliano dal zilio
@Clayton Blake
@tom
Hi Tom. I have McArdle’s Disease too. I am 51 years old and was diagnosed in 2006. I have had it all my life and did not know it. I was always called “lazy” as a child. I found out, in 2006, that I was not lazy. I had a muscle disease. I wish I had known when I was a child. It has answered a lot of questions for me. My neurologist and geneticist told me to take vitamins B6 and B12. I find that it makes a difference in my energy level. I hope you are able to try the B6 and B12.
Do let me know if it helps at all.
Ruth
@Shannon
I was diagnosed with McArdles last year. I am now 28 years old. I have struggled with this disease since I can remember. Like your daughter I as well have bouts of nausia and vomitting. Generally this will happen in situations where I over exert myself physically. However if I tend to get emotionally overwhelmed it also takes a toll on me. When your body is emotionally stressed it can cause your muscles to tense. Therefore at times it may cause a chemical release in your body due to the disease. When my life is steady and I am focused on simply getting through daily challenges and monitoring my health the episodes of nausea are fewer. It is a hard thing to maintain especially since there seem to be so many symptoms that have been undocumented. I as well when my cpk levels are elevated have a hard time with concentrating on more than one thing if the volume is to loud. Bright lighting or lots of movement around me is disturbing. One explaination I have recieved on all of the above is that the body being over run with one chemical can have the tendency to over produce others to try and balance itself. The end result can cause to many reactions at one time and lead to a certain amount of disorientation. I live in Alaska and there are no specialists here. Most doctors are afraid to deal with me even when I have the flu. My body is extremely sensitive to different antibiotics and medications. Prior to my diagnosis there were several medications I recieved that actually elevated my cpk to the point that it actually caused me to have full body tremors. I as well lost the movement in one side of my face, my speech was impaired and I was unable to walk normally for over a week. Most of what I have learned has been from just my experience in living with this disease and recently research I have done on my own to try and make my life more liveable. With what I have learned I seen improvement in some areas and not in others. There are things that I avoid eating because it seems they make me ill somehow. Anything with MSG in it tends to make my body react strangely. Any type of drink with artificial caffiene will make me sick to my stomach and fatigued. Mt.Dew, Coke, Red Bull etc. However non caffinated sodas don’t bother me and I can drink brewed coffees. Red meat is hard for my system to digest and generally will make my stomack hurt. The last on my list would be fried food, most home cooked fried food using wesson or olive oil does not effect me, but when I go out the fried food from certain restaraunts will make me ill instanly. I can’t eat anything from KFC at all. I in the last year have started cooking all of my meals mainly at home and avoiding the above listed foods. I have reduced the size of all my meals and made sure that they were balanced and that they had a healthy amount of protien in them. This may help with your daughter. There isn’t always rhyme or reason to this disease and it seems that the research is few and far between. I can tell you that with my change in diet and regular excersize be it molded to my capabilities has helped with the way my energy maintains. There are still days that I am tired and it took a long time to find my limit with working out at all. It’s a scary thing to go through because when you know that what you are doing could hurt you when you excersise sometimes it’s hard to be strong enough to try. That alone is emotionally stresful. The other side of McArdles is the emotional effect. When there are a string of days that my cpk may be elevated I am much more emotional and I have to really focus to monitor my personality. In fact my emotional state warns me that my chemicals are off before my muscles do. I’ll catch myself getting upset about something small or my feelings will get hurt by something that I mistook because I simply am getting fatigued. After my diagnosis there were a lot of things about my life that were suddenly explainable. Unfortunately a lot of those things were not so wonderful, but going back through those things it has helped me to format some type of regimen for myself. If I am lucky some day I may get the chance to see a specialist such as Dr.Slonim, whom I have read wonderful reviews on. I don’t doubt that his input is extensive and helpful. However encourage your daughter to think back to all of her episodes and see if there isn’t something else you can connect to them. I’m not a doctor and I’m in no way a professional inthis matter, but I have found way to think outside the box as the medical profession is no good to me here. There may be thing though that affect her that seem small but can make a huge difference with a little change and it could be as simple as her being more comfortable with herself and this disease or just not eating a certain thing.
Hope this helps and feel free to ask anything you would like.
I am 36 years old. I have played competitive soccer, I play racquetball 2-3 times per week at a fairly competitive level. Sometimes for 3 hours straight. I’ve got 4 kids and have been married for 17 years. Do the math and you get an extra 20 pounds or so.
So, I decided to hook up with a personal trainer 2 weeks ago. I went in at 6:30 on a Monday morning and proceeded to do push ups, pull ups and various other drills for about 1 hour. I knew I was going to feel sore and maybe a little sick because I had not pushed myself in a long time with that kind of training. By Tuesday night, I could not move my arms and was in incredible pain. I went to the hospital Wed morning thinking I may be able to get some muscle relaxant or something because I wasn’t even able to sleep. The docs of course had no idea what was up. After I told him my urine was brown, he had me sit back down and the proceeded to draw blood, etc. My cpk levels came back at 120,000 and they all freaked out. Went straight to ICU and the rest is history. I was lucky, my kidneys pulled through just fine. I guess my issue now is that I have been really active and now suddenly, I’m told I can’t lift weights, and should limit what I’m doing, but why did I not have any issue until that one day 36 years later? I feel like I need to jump back into my regular routines and activities, but I am a little hesitant because my arms hurt like crazy and I really like to avoid hospitals. I’ll stop. Sorry, this is a great place for me to vent a little.
Hi Christopher. I am a 51 year old female. Was diagnosed 3 years ago. I find that I am not able to walk very far because of the unlevel roads and sidewalks. My neurologist told me to try to limit myself to very flat roads and to use a treadmill on the least incline setting possible. (NO INCLINE)I find the treadmill the best form of exercise for me. Also taking my B6 and B12 supplements every morning helps. I was doing not too bad until my treadmill decided it didn’t want to work correctly any more. So for now, I am grounded. It has started snowing here again so I do not go out walking in that. My legs, however, are feeling very heavy and I am in constant pain. My legs also go into spasms quite regularly. I find myself going into stretch mode with my legs a lot now, especially during the night and they feel like they stay in the stretched position all the time. They feel as if they weigh 50lbs each. My shins feel like I have shin splints but it is just the McArdle’s. So frustrating. Does anyone else have that problem? I also have osteoarthritis in my knees which makes my walking that much more difficult. They will not operate yet because “I am not old enough”. I am currently trying to lose weight. Need to lose approximately 95 pounds. I know it can only help. So far I have lost 35 pounds. 60 more to go. It is hard but I am doing it slowly. I do not want to end up in leg braces or a wheel chair so I am trying to get the weight off. But I do know that it can and does happen regardless of weight.
Do let me know if anyone else on this site is having similar problems with their legs.
love y’all
Ruth
My 17-year-old daughter has many of the symptoms of McArdle’s disease (muscle pain and cramping, extreme fatigue, muscle swelling.) Her doctor suggests this diagnosis, but of course wants to confirm it with a biopsy. We are concerned that getting a confirmed diagnosis of this disease on her health record, since it may cause problems getting affordable insurance in the future–and since the treatment for this disease (care in exercising, taking B vitamins) can be undertaken without a confirmed diagnosis, we are considering this option. Any thoughts about whether we would be missing something crucial if we taket this approach?
Hello Everyone. My first post here. I have had McArdles all my life but only diagnosed in’05 after my second round with rhabdo which required hemo dialysis to reduce the toxins that my kidneys were not filtering. In my opinion loading up on sugars does not help. I have tried it but I have found that supplementing with l-carnatine and creatine does have its benefits and I also agree regular exercise such as walking and paced aerobics is a must. I also tried a low carb diet which seemed to keep my body in the “switch mode” which means burning fat for energy instead of carbs but I do not recomend the diet because at some point you have to add the carbs back. Regular exercise and a warm up before any physical activity seems to be the best for me. By the way this site is very helpful as we all are still learning about McArdles.
Hello, I’m a 37 year old male and finally been diagnosed. I’ve had dozens of blood tests which started out identifying high Liver Enzymes which then identified high muscle enzymes, I was fortunate to be on BUPA and after my CK levels hit 7000 I was rushed for an MRI test on my thighs and abdomen, I also had electrical nerve conduction tests on my arms/legs and prior to this was waiting on the results of a genetic test. I opted to have the muscle biopsy last as a final test but fortunately the genetic test came back positive.
My younger brother by 8 years also has the same symptoms, ie stopping to tie shoe laces or answer a pretend call to get a rest when with others. I have developed the muscle cramps, swellings and dark urine over the last 5-10 years which he has a lesser degree of at the moment.
I am waiting to see a specialist who will hopefully increase our knowledge and also waiting to see a family gene specialist who will help identify the other members/carriers in my family.
I’m taking Vit B6 + B12 aswell as Sucrose tablets prior to expected exercise until I know better.
Hello, I just turned 36 y/o and think I may have McArdles Disease. I am a career firefighter who is worried to death about not being able to execise or perform simple functions anymore. I have read several posts about what little treatment there is for this disease. I tried the creatine for awhile then tried a workout and could not go more than 30 minutes. This is really depressing. Another bad part is that the Genetics Doctor cannot get a biopsy til August 31st. I have left several messages for him and told them it is getting worse by the day. He hasnt even looked at my blood work yet. I have had leg cramping all my life, but knew something was wrong when it hit me last year after running for 2 miles and my legs felt like they were going to spasm at any moment or grade/level change in the surface. I need to know some type of treatment works for somebody so please, any help is MUCH appreciated! Thanks for listening!
I have also been told to ingest high doses of suger before any form of exercise, but I do not find it helps me at all. All it does is add weight and it is really hard to get rid of when you cannot do the intense exercise required for weight loss. Low carb diet as well, is not bad but you do have to eventually add them back and again, the lack of intense exercise puts any weight you make have lost back on. It is driving me crazy. I too have had mcardle’s disease all of my life but never knew it until I was 48, when I fell and was rushed to hospital, later finding out my CK was 40,000. Spent 8 days there. I am being watched very closely for any sign of rhabdo. Get CK level checked every month to be sure it doesn’t get out of control.
HI I wrote a pretty long post and it didn’t post so I am just going to ask a simple question. Does anyone have lumps in their muscles?
I have dozens of them in my forearms, abs and now my thighs. I had a mri a few weeks ago and the lumps did not show up but they did find out I have arthritis in my knee and bursitis in my hip.
I have been diagnosed with many things but I do feel Mccardles is what I have. I have all the symptoms but the dark urine but I do over exert myself too much but have had back problems since I was teen, then found out recently I have no arthritis in my hips, they told me 10 years ago my leg and thigh pain is my hips but my hips look great on a xray.
Not one Dr knows what the lumps are and they are not painfull, does anyone have any experience with these. Carla
Oh my gosh…is the only way I can describe how I feel after reading these posts. My son had an episode of Rhabdomyolysis 4 weeks ago. I had never heard of this condition prior to that. His arms swelled to the point where it was hard to bend them. We thought it was an allergic reaction, as suffers from severe allergies. I had no benedryl in the cupboard so we took him to the E.R. He mentioned to the doctor he had lifted weights at the gym 3 days prior and his arms felt sore. Phillip is 17 yrs. old., and he only lifted 12 lb. weights, three times less than he had lifted a year before in gym class. By chance the doc tested his CPK levels, which were 58,000. He was in the hospital for 4 days on high levels of fluids. The doc is planning a muscle biopsy next to try and pin down a diagnosis. I’ve had him to doctors for 3 years regarding consistently high biliruben levels and fatigue. My worry has been a liver problem. After reading your descriptions of McArdle’s symptoms I’m wondering if it’s not a problem for my three girls as well. Two have been diagnosed with Ankylosing Spondylitis (arthritis), and the youngest has complained of severe pain in her shins after running (so bad that she can hardly walk). One daughter has also complained about extreme exhaustion after running a short distance, dizziness and extreme headaches that last for 3 to 5 minutes. Has anyone else experienced these symptoms?
Thanks so much!
Carleen
I am 46 years old and was diagnosed 9 years ago via muscle biopsy. I’ve had symptoms for as long as I can remember, but they grew worse in my 30’s. The neurologist in New Orleans had only heard of it, but wanted to do experimental treatments. He said he would write the results up in medical journals and was very exited. I was all for it until he told me the expenses would come out of my pocket. I live in Hoston now, and would like to see Dr. Haller in Dallas, but since my husband died I have no medical insurance and doubt I could afford Haller’s treatment.
No doctor I have ever been to has seen a case of McArdles. It’s very frustrating. Once the doctor knows I have it, they are overly cautious to treat me with any sort of medicine, whether it’s for a cold, flu, or my high blood pressure. I have had many bouts of rhabdo and excruciating contracture. When my husband was alive and we had insurance, I would go to the emergency room and be subjected to mind killing pain because they wanted to bend my body in all sorts of ways to take x-rays of which ever limb was being affected. Then did not treat me for the pain, and I don’t recall but one doctor ordering a blood test to check the CPK levels. Since then I’ve had to tough it out at home due to the lack of insurance. I have never spoken with anyone who has McArdles before, but the posts here do sound so familiar. My McArdles seems to be quite severe, but again, with no knowlegable physician to help, I really have no idea.
My symptoms have really gotten up and galloped over the last two years. I was an airbrush artist all my life but now I can not hold the airbrush without my fingers contracting within 15 mins. My feet seize up after trying on shoes, my forearms become rock hard and feel like the muscles are tearing away from the bones if I scrub my toilet or clean a pan. I’ve only had 3 serious incidents where I was in sheer agony over the last 2 years, but do “pull” (for lack of a better description) muscles regularly.
I can commiserate with others on here when they speak of having to stop and rest while walking. My father used to call me lazy until he witnessed first hand a bout of contracture that sent me to the hospital. But what I find is the hardest to deal with is other people’s reaction. I don’t LOOK like there is anything wrong with me, my friends and extended family don’t seem to get it, people glare at me when I park in the handicap spots. One man went so far as to accuse me, at a loud volume, of stealing my handicap placard. I’m thought of as a lazy bum. It is VERY hurtful and degrading.
With no insurance and no regular care for the McArdles aspect of my life I am very frustrated and feel adrift with no way to turn.
Hola soy Marcelo de Buenos Aires, Argentina. Lamento no escribir en Ingles, pero mi lenguaje es limitado. Fue una alegrÃa encontrar esta página y una luz de esperanza que se vuelve a prender.
Tengo 41 años y 3 hijos. Tengo Mc Ardle diagnosticado a los 15 años. Trato de hacer una vida normal y en la medida que puedo hacer alguna actividad deportiva (Futbol y Voley). Hasta hace 1 año no conocà a nadie con la enfermedad y desde hace un tiempo conocà a muchos españoles y un venezolano. Ahora los encuentro a Uds. La verdad que me hubiese gustado que ninguno de nosotros este en esta página, pero el destino asi lo quiso. Por algo debe ser. Asi que desde Argentina me reporto para conectarnos, conocernos, compartir experiencias y quien sabe el milagro de la cura de nuestro problema.
En el mes de Junio hay un congreso en Madrid. Es importante que todos compartamos las conclusiones de los congresos que se van realizando por el mundo.
Un abraso grande.
Bye, bye.
Prometo traducirlo al Ingles y volverlo a enviar.
Hi Karenne,
Just wanted to drop you a line as I also live in Melbourne and have McArdles Disease. I am 39 years old and only diagnosed last year although like many others had symptoms all my life and lots of people telling me I just needed to try harder. I have found a good neurologist at St Vincents hospital and neurogeneticist who have been able to give me a lot of information. I’d be happy to give you more information if you like. @Karenne Taffinder
@Julie
I love this website. I have looked for so long trying to find a site like this one because even with all the “DRs” degrees if you live with McArdles you know more then the doctors do on this.
Julie, check with the MDA in your area several years ago when I went to the specialist in St. Louis I was told Mcardles is covered under the MDA. I have never had to use it but it may be worth a shot.
Hi everyone. I’m a 32 year old female and have been experiencing extreme fatigue and exercise intolerance since October of 2008. I have not been diagnosed with McArdle’s Disease, but I’m definitely going to have my doctor check for it now. I found this page by accident. I’ve been trying to figure out what is going on with my body and the doctors have no clue either.
See I’ve always been a very active, athletic person, but have always needed a lot of time to recover from even a small amount of exercise. In the past five years I trained my body to walk half marathons. I wasn’t fast by any means. Slow and steady never won the race, but I could finish. Then I fell sick in August of 2008. I was told I had a stomach bacterial infection called h.pylori. After a few weeks of antibiotics and a month of relaxation, I was given a clean bill of health…that is when my hell began.
My legs were constantly frozen (heavy, sore and stiff). No amount of stretching or massage made them better. Matter of fact, massaging the muscles put me to tears. I was constantly fatigued. My legs became weak and there were days where I could barely walk. I made the mistake of walking a half marathon with friends in October of 2008 in San Francisco only to be bed ridden for two days. The pain I felt in my legs had now moved to my arms as well.
The doctors have done multiple exams, studies and tests to no avail. The gastroenterologist who found the bacterial infection sent me to a rheumatologist where he ruled out any kind of autoimmune disease. My family doctor thought maybe I had myositis since my mother and an uncle suffer from it. I was put on a round of prednisone with no positive results. Still in extreme pain, I was then shuffled off to the neurologist who did MRIs, an EMG and blood test with still no findings.
It’s been two months since I’ve seen the neurologist and I’m better then when I first saw him. The pain is less intense. The only thing that has changed in the two months is how much exercising I’m trying to do. I can no longer cycle the one mile to work, because within less then a minute my leg muscles are on fire and I’m breathing heavy like I haven’t exercised in months. Walking to work can also be somewhat uncomfortable so I do not do it very often.
The only real exercise I’m doing is swimming a couple times a week. When I swim I do not have as much soreness as when I cycle or when I try to do traditional exercising (weights etc.), but my muscles are stiff the next day and I’m really, really tired. Plus I get leg and foot cramps if I’m in the pool too long…so I stay in the shallow end of the pool even though I can swim. I don’t want to take any chances.
I’m so glad I found this website, because up to now I was really losing hope. With every doctor telling you there is nothing wrong, but then they cannot explain why I’m hurting so much and why I cannot exercise any longer. Plus, for those who have known me all their lives..they cannot understand how an athlete can go from marathoning to barely being able to walk. Like Julie (previous post) said, “I don’t LOOK like there is anything wrong with me.” Thanks for listening.
@Carleen
Carleen,
As a young athlete in elementary, middle school and high school I suffered from bouts of fatigue like your daughters. I was told to suck it up and keep going, so for many years I did. I suffered in silence until my body would not let me push it any longer. It’s possible your daughter has the same issue as your son, but the only way to know for sure is to get her checked out. Good luck and God Bless.
Consuela,
Have they ruled out fibromyaliga (wrong spelling) and MS? It sounds like you may want to ask your doctor to do a muscle biopsy.
I am a 55 year old female and was diagnosed with McCardles about 10 years ago. I have been hospitalized twice with high CPK-75,000. No kidney damage, thank goodness. I had my first fatigue memory when I was 5. In my family,I followed a very athletic brother and was always made fun of or called lazy. I learned to skip “gym” in 5th grade. When my neurologist diagnosed me, I almost kissed him! I wasn’t lazy and I had a name for my inability to keep up with friends and family.
It is rare and I would love to talk to others that have the disease. I went to South America after my last hospitalization and took life savers with me. I did very easy hikes but made sure I had a bunch in my pocket. For me, they helped. Thanks for your comments everyone.
Likewise, I’ve been diagnosed with Mcardle at age 30 after years of leading a mysterious life (getting tired very easily, difficulty swimming and taking the staircase). I recently quit my teaching position as apparently standing for long consecutive hours have kept my CK level quite high. I wonder if anyone experienced this. It is interesting to know though that I ‘ve been keeping a diary of my lifestyle, diet and CK level (which I take occasionaly). I noticed that my last four trips to Italy this year witnessed an improvemnet in my CK level, perhaps due to daily intake of pasta. Since then, I’ve been increasing my pasta intake at home and i feel less tired than taking different food. Anyone has discovered any good diet? Or improved after a particular diet?
I am 15 and I was diagnosed last November. i have two older brothers so ive always followed in their athletic shoes. Ive played soccer for 12 years and basketball and softball for about 8. I always thought that i just had poor endurence because i would run down the basketball court just twice and already be fatiged. My dad and brothers would say i was just lazy and week, but i always knew something was wrong. a day after soccer practice we finished with some strenous abdominal workout and afterwords i could not move. we went to the hospital and i had an elevated CPK of 26,000. Three years later i finally got a biopsy and was diagnosed with mcardles disease. Now im a freshman and my athletic career has come to a dead hault. doctors say not to do any anarobic excersize but i should be able to do areobic things lik run or jog, but i can never get past the cramping in the firt minute of running to be able to keep going. i just keep praying for a cure someday, and hope that maybe i’ll be able to play sports up to my fullest potential.
Those of you who post who have not been diagnosed please get the test because there are many other muscle disorders out there some are even more rare than McArdles like CPT-2 in which the body can not breakdown fat or burn fat from the body and depends on carbs only. In this case diets will be handled completly different. In the case of McArdles disease, Wake Forest Baptist Hospital gave me a list of medicines not recomended for me including Statons which is found in most cholesterol medicine, High levels of caffeine is not suggested also some anesthesia for sugeries can also be a problem. Do stretches and warm ups before exercise, do not weight lift, and pace yourself no matter what you do. Stop and rest before it is too late. I have had kidney failure twice due to too high CK levels before I was diagnosed. Hemodialisys is not fun but through a wonderful hospital team and prayer I recovered.
To Mike the firefighter, God bless you man for you service but if the disease gets to be too much for you, you may need to think of another profession. I have been in situations to where I couldn’t even walk and the thought of doning that heavy turn out gear and going into extreme heat from a fire is scary. I used to volunteer firefight but it was too much. To all God Bless!
@sheila
Hi Sheila,
Yes the rheumatologist and neurologist do not believe it is either fibromyaliga or MS (but not 100% certain that it is not MS). I’m seeing an allergist on Friday to make sure I’m not eating something that could be affecting me. I did not know this, but food allergies can cause muscle problems too. The only food I know that I’m allergic to (garlic) I avoid. I’ve asked about a muscle biopsy, but the doctors keep doing other testing (MRIs, EMGs..multiple blood tests). I guess I just have to wait and see. If everything keeps coming back normal, then I’m going to insist on the biopsy. It’s frustrating, but I’m not going to give up. Hope you are well. -Consuela
Hi Everyone! My name is Vikki and I’m 31yrs old. I’m a nurse and a Floridian and I was diagnosed with Mcardles disease when I was 19yrs old via a muscle biopsy! All my life I remember being the slow one, although I was always fit and active. I remember playing basketball in middle and high school and having trouble running full court. In hind sight, I also remember my fingers curling in towards my palms and my forearms swelling after lifting something heavy. I simply thought I needed to workout harder. When I was 18, I began noticing a decrease in strengh and endurance, which was significantly less then my other teenage counterparts. I noticed an increase in fatigue and brought it up to my doctor. He thought it was depression and gave me an antidepressant but luckily he did do some lab work. A few days later I got the call that started it all…an elavated CPK.
I have had my diagnosis for appx. 12 years now. I am a mother of three non-affected children. Although each of my children will be carriers of the gene, because Mcardles is Autosomal recessive, each one of them is strong and vibrant and full of ENERGY! My pregancies were normal and without complications.
As I said, I am a nurse and have been successful despite my limitations. I have an outstanding team and above all I have learned what most of my limitations are, although I am afraid to admit that I hovered over a toilet seat when using the bathroom once at work and my thigh muscles began to swell and contracted for a good 48-72 hrs. ( I never saw that one coming and it was very hard to explain.)
I have never been hospitalized, although once in 2007 I was close. I went swimming with my children in a pool. I swam the width of the pool underwater and half way I had to surface because every muscle just stopped responding. Thank God it was farely shallow because I thought I was going to die. That night I woke and went to the bathroom and it looked like coffee. Luckily I called a friend that is a surgeon and he told me to begin drinking water quickly until I noticed my urine returning to normal. It took about 2 hours but it worked. The next day I began my three day 12 hour work week and on the fourth day I went to the doctor at which my CPK was 37,000 and I had elevated liver enzymes. I was not hospitalized thankfully and did not require dialysis.
My plan is to work and help people for as long as I can and be thankful for each day as it comes. God Bless All!
What a great website and how nice to be able to share our experiences.
I’ll be 70 years old next year and I’ve gone through most of the things I’m reading here including kidney failure. I was diagnosed in 1960 with what they called myoglobinuria back then. In 1986 a byopsy proved McArdles.
Three months ago I was diagnosed with diabetes and I’m currently taking insulin.
Are any of you diabetics too? Any added problems? The doctors can’t tell me what I can expect because they have never seen McArdles. -Mike Ryerson
Hi everyone,
I have been going to the gym a couple of months now and I can tell you that I already feel much better. I am doing a very careful routine, with a half an hour cardio. Then I do two series of 12 reps with very low weight and then I do two more series of 12 with about the 80% of yhe maximun weight I could tolerate for the same number of repetitions. I must say that I am very happy with the results so far. My energy level has increased and my exercise tolerance has also increased greatly. Now I am thinking in lossing some weight as I am slightly overweight. I am 182 pounds and 5 feet 8. My legs are much more muscular than anyother part of my body and I am not as fat as I may seem in figures, but definitely could lose some.
Any suggestion for dieting?
@Stephanie
Hi all, I have been dealing since i was 9 now im 46. in the last 3 years i have had constant pain in my lower back from episods i had when i was younger. the last 3 days my left foot has been cramped and very painful. Thought back to what i might have done to get it like that. $ days ago i put my foot on the tube to cut my toe nails, i must of had it at an angle it didn’t like or pushed to hard. So im learning the more it progresses the less you need to do to to have pain. not good
Linda,
I noticed you said you check your CPK levels regularly. Is that through the lab or is there some way to check the levels at home? If we had some way to check for high CPK levels without going to the doctor it would lessen our stress levels. We worry alot about my son’s CPK levels going up and not catching it in time. We have been told exercise is good, but at this point anything he does makes us all nervous. He’s worried too and complains alot about pain in his arms and legs, even hands. I just don’t know what to tell him…I resort to my usual answer of “take ibuprofen”, he complains that it doesn’t do any good. At the end of the month we have a consultation with a surgeon that will be doing a muscle biopsy, hopefully we will have some answers then. If it’s not McArdle’s we’ll be back at square one. I don’t want anything to be wrong with him but if it is McArdle’s then at least we would have an answer as to why he feels so bad all the time. It is very frustrating to see your child in pain and not be able to do anything about it. It is also a mind-boggling feeling to hope that it’s McArdle’s and hope it’s not at the same time. My best wishes to all of you.
@Vikki
Hi Vikki
I too have all symtoms except the dark urine. I had a muscle biopsy done in July of 2006 and it determined that I do have McArdle’s. As well, I have the problem of my fingers curling toward my palms when I over exert myself. It takes a couple of hours at least for them to settle down. I recently sprained and fractured my ankle, May15/09, and the doctors said I would be walking just fine within 1 week. It took 2 weeks before I could really put any pressure on my foot and now, after 5 weeks, I am still experiencing a lot of trouble. I am told that because of the McArdle’s, it will take a lot longer for me to heal. SIGH!!!!!!!!! I get my CK level tested every month. It was 497 on May4th and 774 on June 4th. I do hope you get an answer to your sons troubles soon.
Best wishes to you.
Hi all! My names Carrie Weaver and I am a 26 year female from New Zealand. I was diagosed with McArdles about 1 year ago now, I have a 5 year old son (Kyle) also. About a week after having Kyle I became very sick very quickly, losing weight fast, in extreme pain and uncontrolable vomiting..I had elevated CK and had protein in my urine. I was referred to a renal specialist who ordered a biopsy and I was diagnosed with Lupus! I have always been an active person.. doing sport all my life and being a personal trainer and pilates instructer for years, I always new something wasnt quite right.. no matter how much i trained i didnt seem to be able to get much stronger or fitter! I started noticing lil things were becoming a mission eg. Blow drying my hair, just going up more than two flights of stairs, yet i was training all the time.. It juts didnt make sense. Even the slightest hill terrrified me! I kept goin back to specialist after specialis, then finally was diagnosed.. It felt great in one way.. knowing I wasnt lazy, and was depressing in another way knowing my career and lifestyle needed to change. Specialist styill claim I have lupus also.. however Im not totaly convinced! Has any1 else been mis diagnosed for lupus? I also suffer at least once a month from crippling head and neck pain (like a migraine) and intense vomiting! Related? anyone know? I have become very out of shape since the diagnose and was wondering if any1 has any tips for the me? Diet? Excersize regime? I just wana get one and live life.. I am currently training to become a nurse, (since i had2 change my career direction) Also anyone from NZ with McArdles.. would love to talk!
Caz
62 years old. Had all the symptoms from an early age. Taken to doctors at various points as a child and told I was lazy. Things came to a head at age 13 when pe teacher used to force me to do extra exercise and slap me around when I failed (those were the days!). Doctor diagnosed ‘missed polio’, an apparently non-existent condition, and recommended physiotherapy. Not correctly diagnosed until I was 34 when my GP, who had trained under McArdle himself, recognised what it was.
I found this site interesting for the anecdotal stuff about the way we attempt to conceal our ‘weakness’: stopping and pretending to tie shoelaces when walking up hills. Intently reading a book in the same circumstances. I used to stop and ‘admire/inspect’ parked cars and motorbikes for such long periods that I’m surprised I was never arrested.
Nobody has so far mentioned sex but I can’t be the only man with this condition who envied women their ability to go easy with their lower abdominal muscles if they needed to. How many answers to ‘Why have you stopped?’ can a man be expected to come up with?
As far as exercise is concerned, I go to the gym and do a reasonable amount of anaerobic stuff. You have to wait for the second wind and you have to build up your reps slowly but the rewards seem to me to be worth it. I’ve also found that it’s possible to ‘beat’ the cramps by stretching the muscle before the cramp sets in, so if you’ve done some sit-ups and you’re expecting your lower abs to ‘pull’ you down, lie on a bed or something and hang your upper body over the side. Obviously, this only works before the cramp starts so you have to be quick. Try the same thing for tightening fingers, push them right back. This can often stop the cramp from setting in.
Other anecdotal stuff: aren’t old-fashioned tin-openers a killer? Does anyone ever feel confident enough to swim very much out of their depth, even though you know you could probably float if needs be? And the mail about the way that tenseness or fear seems to bring things on much quicker is absolutely right, as I discovered a couple of times when I had to run away from trouble.
I’m surprised at how many of you seem to have experienced ‘late onset’ (as opposed to just late diagnosis) and I’m appalled at the way some (presumably American) mailers have had to worry about medical insurance when considering diagnosis.
On a final and more upbeat note, I was worried when I was younger, about the condition worsening with age. No signs of this so far for me and I hope not for anyone else out there.
I am 29 and was diagnosed with McArdle’s disease in 1998 when I was 18. When I was as young as 8 I remember having trouble running and doing excercises in school. When I was 13 I had to do a physical fitness test which involved doing as many sit ups as possible in 60 seconds. I did 12 but everyone else was doing 50 or 60. I walked around all day unable to stand up straight because of the muscles in my abdomen hurting so bad, but because of years of dr’s and friends and family telling me there was nothing wrong with me or I would grow out of it I thought that I really was just being lazy. I have been in and out of the hospital many times since then for rhabdomyolysis.I’m just glad to finally know that there was something wrong with me all those years and that there are other people with the same disease. Also I was wondering if anyone knew the chances of someone with McArdle’s disease having a child that does not get the disease. Any information would be greatly appreciated.
I am going to translate for Marcelo De Luca, albeit not beautifully…
He said:
“hi, I am Marcelo from Buenos Aires, Argentina. I’m sorry not to write English, but mine is limited. It was great to find this page and rekindled the light of hope. I am 41 years old and have 3 children. I have McArdle’s, diagnosed at 15. I try to live a normal life and do a little sports like soccer and volleyball. Until a year ago I did not know anyone with this illness, and since I met many Spaniards and a Venezuelan. Now I find you. The truth is I would have liked none of us to be on this page, but destiny made it so. It must be for something. So, from Argentina I report to connect us, get to know each other, share experiences, and who knows the miracle of a cure for our problem.
In June there is a conference in Madrid [Spain.] It is important that everyone shares the conclusions of the attendants, that they are realised for the world.
A big hug.
I promise to translate this to English and post.”
Anyway, from me, Alba now…
I found this page by googling some of my symptoms and test results. In July I am going to a geneticist and the Mayo clinic. My biggest hope is to finally be given an answer there, after years of seeing many doctors and waiting (and many incorrect diagnosises.) There are many similarities for me with McArdles, but obviously I do not yet know a thing. For months my doctors have told me to expect to have a muscle biopsy. So, perhaps I’ll return to this page. (Besides having POTS they all think I have a neuromuscular problem.)