@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 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?

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!

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.

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!!!

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?

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.

@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.

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…

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.

Has anyone tried yoga or heard if that will cause an episode of rhabdo?

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.

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.

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.

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

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?

@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’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….

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.

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

@Clayton Blake

@giuliano dal zilio

@giuliano dal zilio

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

@Clayton Blake

@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.

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

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 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!

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

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.

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

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.

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.

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?

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!

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!

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?

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.

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

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.

@Stephen
Stephen,

I have a 10 month old girl who seems to be healthy and not affected by my disease. I am also 29 and share the same stories as you regarding you past experiences. I know I have asked many doctors if my little girl would have McArdles and for the most part they all feel she will not be affected by it. However, I like you still want more information to see what I can do to make sure. I think it’s going to be a good thing knowing how the disease works and living with it for 29 years to help identify it if she does have it. I can remember from 5th grade on feeling like a weaker individual than my friends and classmates. It can be tough on a young child not knowing it is disease related, and not because of performance. For anyone reading this in their later 40’s or 50’s who can tell me the physical strain they feel now compared to how their friends preform at their age I should would appreciate it. I ask this because I feel a little more physically down each year than I have noticed in years past. I am thinking more walking and exercise may help, but I worry about this because I want to still live as normal of a life as I can to see my girl and future children grow up.

Stephen,
You will obviously be a carrier for the gene but your partner/wife must be a carrier also before your child can have it. Then the child only has a 50/50 chance of developing McArdles. I have a 14 month old and have no worries about him growing up although he will be a carrier himself. I have the disease but my brother who is 6 years older shows no signs. Hope this helps.

@mike

I come from a family with eight children, four boys and four girls. We are all in our fifties. ALL FOUR of my brothers have been confirmed to have McArdle’s, although the severity varies. Two of my sisters are at least carriers. I absolutely do not believe that this is as rare as they say… I think instead it is widely misdiagnosed.

I am a 58 year old male. I was diagnosed with McArdles at 45 years old. I was experiencing fatigue, leg and body cramps and could not keep up with the exercise. I also have high cholesterol and was given lipitor (statin drug), and the statins make your situation worse. Do not take statins. I take mobic which helps with all of the muscular pains. Do not use heavy weights because you will get sick. Walking is good for you and I walk 3 miles every day. Persons with McArdles are also susceptible to getting uric acid stones (gout) and I now take Uricit K to take care of that problem. Take a multiple vitamin with minerals every day. Also stress aggravates your situation.

I now have a mild case of diabetes that is under control. Eat a lot fruits and vegetables. Stay away from white bread and look for multigrain breads. You can eat beans, chicken, and fish. Keeping a balance with this disease is difficult but you can do it. Other than that, good luck to all of you.

Just wanting to know does anyone suffering from Mcardles disease have back posture/hunch back??

Also if your partner has Mcardles (male) and you (female) dont is it inherited???

I forgot to add that I was only diagnosed 15 months ago

I am 21, from the UK and a month ago I was FINALLY diagnosed with McArdle’s.

I have been mocked, bullied and pushed to do more than I was capable of my whole life. I have suffered daily pain in simple household tasks that to a certain extent has improved with age. I can’t walk to the shops without shopping. I can only climb so many stairs. I was called lazy, and unfit. Part of me worried that they were right, and so I didn’t always say.

Even though I am better than I was and exercise more, I find this to be a mixed blessing. People often don’t realise that I have any problems and treat me differently once I explain. Also, when I do injure myself now it is often a lot more severely and appears inexplicable to people who don’t know.

I’m working on improving my situation, and I now have a trainer at the gym. We’re working now to give me strength in my muscles that will support me as I age. I’m scared but I try t stay positive.

After finding this web page I felt so isolated now I can see that im not alone my story is like everyone else.I am a 48y old Male and was diagnosed at 45. It destroyed my career as a Construction Electrician My hardest thing for me is accepting that i have this Disease Im very independent and always did things by myself but now I find that I have to ask for help doing the hard work and other chores. I find this to be very emberising for me
but Im slowley learning that I have to accept it.

Just to share with everyone – the AGSD Conference is being held Sept 11 & 12 in Denver Colorado.

It is going to be a unique opportunity – having 3 of the world’s top three McArdle doctors there – Ronald Haller (US), Ros Quinlivan (UK) and John Vissing (The Netherlands). Apart from hearing from them, we have a chance to influence their drafting of a care guideline for Type V.

There are about a dozen McArdles pts going thus far – it will be a wonderful opportunity to meet others and share information.

You still have time to book – http://www.gotcornstarch.com

I am 22 and I am a avid runner since 7th grade, I have had problems with discolored urine after my runs since 9th grade, especially long runs. I also have problems with fatigue and muscle soreness. I have never had some of the severe problems like some on here but has anybody else experienced a constant occurrence of rusty colored urine after exercise?

Also, my doctor wants m to take Creatine…5-10 mg a day. I cannot find it anywhere. I went to the GNC and the Vitamin Shoppe, and all they have is Creatine in HUGE doses(like for bodybuilders). I told my doctor that, and he was a lso a bit confused. He asked me to ask some of you on websites like this…where do you get your Creatime from, what is the bran nme, and how much do you take? Where do you get the 5-10 mg of Creatine Kinase each day?
Thanks.

I was diagnosed with “Paroxismal Paralytic Myoglobinuria” in 1957 when I was 24 years old. I am now 76. I wonder if I was misdiagnosed and in actuality have Mcardle’s Disease? The symtoms are nearly identical to most Mcaraadles sufferors.Swollen,painful muscles after exertion , Coke ored urine. Three to four day recovery period. The malady can involve any volentary muscle, even chewing food. Unable to enjoy sex in the missionary position. Unable to perform even the simplest tasks. The oldest I saw to reply was Mike who at 62 has noticed no effects of age and I had learned to keek the condition benigh. I was able to walk and after an initial fatigue, would recover and could cover several miles. I don’t want to frighten him as I may not have Mcardle’s but at 62 I had not noticed a worsening of the condition. However, as I have gotten older I have become more and more imobile. I have dificulty walking from room to room in my home, I could not think of shopping at any store that does not provide electric carts. I grew up on a farm handling hay bales and sacks of feed and seed with no problem. I later worked in construction and had little trouble till approximateled age 23. I was in the USAF then and on my first sick call, was told I had a “Charley Horse” and to work it out. Anyone who has experienced the pain and swelling knows it can’t be “worked out”. I was accused of being a “malingerer” , sent to the hospital to prove it, and could have hugged my Dr. when he agreed that I did indead have a medical problem after putting me through some very painfull exercises including “Deep Knee Bends”.The pain and paralysis was nearly instant and my urine trned a very dark color. I had a muscle biopsy but I wonder if the Dr.s in those days knew to test for Mcardle’s. The Dr. who made the diagnosis is now dead and most Dr.s I talk to give me a blank stare when I mntion my prior diagnosis. I would like to hear from others who have reached my age to see what their physical condition is and did it deteriorate from mid 60’s on?

ask to be referred to a neurologist and a geneticist a.s.a.p….they will find out for you what it is….a few tests may need to be done, but if it is McArdle’s Disease, they will find it
hope all goes well for you

David…….. I am not suggesting to go against doctors orders but in my experience the creatine never helped me and I found it rather yucky after a month of it but I have found that l carnatine and l alanine amino acids have helped me more than anything so far along with walking and light exercise each day when possible. The l carnatine I buy in pill form at Wal Mart and the l alanine I buy at GNC “Beta Alanine” is the brand. The doctor can also prescribe a pharmacy grade alanine. As always discuss this with your doctor and get the genetic test. Duke University Medical found it in my genetic test and I did not have to get the biopsy. It is not always strenuous exercise that brings on the cramping for me. The last attack I had in my forearm was from driving in a (1) tomato stake with a 4 lb hammer. 3 days of pain that vicodin would not help.

Hi people,
I don’t know if I have McArdle’s disease or not. But if I do have it or any other disease for that matter, I don’t want to know about it. I have always felt that any negative label you stick yourself with will destroy your will to live normally and do the best you can with whatever it is. But I do have symptoms of what people describe here though not to the point of death as many of you seem to have come to. But I have to say that I often feel very bad and it probably would not take much more to get to that point.

I stumbled across this website when a nurse I know told me to research glycogen depletion when I described the symptoms I get from running. I eagerly read every single post here. And I wrote this post to share my experiences with you hoping that it might shed some light as you all have shed some light for me and together as a group we might come up with an answer to this mystery.

I have always been athletic from a very young age at a high competitive level but I knew and the coaches knew that there was something very unusual about me. I ran track but could never train with the track team. Every time I would train with them I would break down and suffer what I found out many years later was severe glycogen depletion. This happened even when I purposely ran trained at a slower pace then everyone on the team. The symptoms were, as you probably all know, that your muscles would not function properly. That you feel lead in your legs like you can hardly walk. However, by jogging, I did not suffer such severe glycogen depletion like I did when training with the track team. And I was skinny so I raced well though it would always take me a week to recover from a race. None of my other teammates ever felt bad for more than a day or two after a race. The stupid coaches I had didn’t even know there was such a thing as glycogen depletion and would call what I had lactic acid. Lactic acid, my ass. I am still mad as hell about their stupidity to this day. That’s because if I had known about this then, I could have dealt with it much better. And the coaches were older, wiser, college educated and should have known.

Anyway, the only way I survived staying on the track team was to jog gently for my training so that I would not suffer the severe glycogen depletion of training with the team.

Over the years, these symptoms have become worse. Now I can get very depleted just by jogging and very often two hours after I complete an hour of jogging, I get severe locking leg cramps, which if you have had them you know is not much fun since it is so hard to get unlocked. It’s painful and scary. If your heart would lock like that, you’d absolutely be dead. And who knows, maybe some people do die like that. In the last two years, I have also had severe lower back problems to the point where I couldn’t even walk and though I didn’t think it had to do with glycogen depletion, I now think it does because I seem to be more susceptible to it when I am more depleted. Muscles all over my body are stiffer and bad things happen.

But the thing is that if I don’t do up to an 1 hour of jogging per day, everything gets worse for me in every way — no energy, severe food craving, feeling weak and miserable. At least the jogging limbers you up, gives you more energy and makes you feel better then if you did nothing at all. That’s not to mention maintaining body weight which gets harder and harder to do as the years pass on.

I don’t go to hospitals because to me they are a waste of time and especially money and I can’t afford it to begin with. The last time I went to a hospital, I had a bitter argument with a doctor who told me to take Tylenol to reduce inflammation. I don’t need to go to a hospital and pay a huge medical bill just to have a stupid doctor tell me to take Tylenol. He got angry and I got even angrier.

Right after that visit, I did however take a free blood test at a trailer the Red Cross had set up. They told me that I had the lowest blood sugar they had ever seen and if I was fasting. This was two and a half hours after I had lunch where I ate a tuna sandwich, can of coke and 8 chocolate chip cookies, glass of milk and a banana. They told me that I should get some further testing done. But with no medical insurance, I’m not interested. I still have no idea what low blood sugar means.

Making the track team years earlier, which by the way wasn’t that easy to do, and always trying to get my body to be at my best for race day, which I now realize meant having high enough glycogen to race well, has made me extremely aware of this element which I think other athletes, normal people and people who have McArdles may not be – that is always being aware of your glycogen levels, knowing what depletes them and learning what can restore them.

Before I even knew about glycogen, I was just going by monitoring my body and seeing what would make me feel better each day like after a races when I would be badly depleted. I knew that as I felt better each subsequent day, I would then race better. I didn’t know it then, but that was all about glycogen. And I seriously and truly believe that this is a great and significant factor in all of sports, whether it is soccer, swimming, baseball, football, basketball and even golf. Knowing how to build and maintain glycogen levels for athletic performance is a significant factor that can’t be denied. You can have a super physical performance one day and two days later have the worst performance in your life because your glycogen levels are too low. It’s all about glycogen. And it can clearly explain why so many athletes and teams are so inconsistent and have bad days. I think it even happens in golf where some players go from one extreme to the other in their regular 4 day tournaments. If you are feeling miserable and depleted after the first or second day of the tournament from playing 5 or 6 hours of golf subsequent days, you are going to be much more liable to play poorly. I don’t think anyone really understands how significant glycogen is in sports and even academics where if you are feeling bad, you may not be able to study or think as well as when you are feeling good. Body does affect mind.

I also find it interesting how many people here have said that warm weather seems to make them feel better. I have observed the same thing. But I have a theory about that that might have something to do with water loss on hot days in that the whole cycle of losing more fluids on hot days and then drinking and replacing fluids helps restore your glycogen levels. I don’t have access to a sauna or steam room but perhaps someone here who does could regularly do the sauna or steam room during the winter months and report back here to see if this helps and my theory might holds water so to speak.

So here is a list of what I think people with McArdle’s should be aware of.

1. Any hard or severe physical activity will result in glycogen depletion no matter how great a shape you are in. Expect it. You can’t avoid getting depleted all the time. It’s a fact of life. I think everyone gets depleted to different degrees sooner or later but McArdle’s people’s reactions may be 10 to 100 times more severe.

2. You should be able to feel and know when you are depleted. When that happens you should be especially careful not to do anything physically hard because at that point your muscles won’t function properly so you will be very susceptible to injury like tearing muscles or possibly like I have tripped and broke my arm because I couldn’t pick up my legs properly. Sometimes people’s wills are stronger then their bodies and they try to push themselves even though they are feeling bad. That is very very dangerous.

3. Be consistent in your physical activities. Inconsistency will result in greater glycogen depletion. Laying around the house for two or three days doing nothing and then do some strenuous chores or some creational activity will surely lead to bad glycogen depletion you didn’t expect.

4. If you are involved in sports like the guy who wrote about his softball tournaments or any other sports for that matter, it is a very bad to deplete yourself a day or two before your competition. To come into competition with low or no glycogen will result in nothing but a nightmare in your performance with a good chance of injury. There should be no severe last minute training.

5. Your glycogen levels in life will always be cyclical. You can’t always avoid glycogen depletion so you have to work on restoring glycogen levels? Basically I have discovered that rest is not enough. I have discovered that glycogen restoration happens much faster when there is light physical activity. I think of it in a kind of metaphorically way like a sponge. Light squeezing of the sponge in water fills it back up where as no squeezing makes it take much longer to fill. Just as severe squeezing of the sponge makes it take longer to fill back up.

Finally, I would be very interested in knowing if any of the supplements people take can make a difference in restoring or maintaining glycogen levels. But I have a feeling that it doesn’t. It’s just that people might associate a natural recovery they would have had anyway with the supplements they are taking at the time they are recovering. But if there is some drug that would keep us from suffering such severe depletions I would surely love to know about it.

I hope this post helps.

Hi,I’m 59 and from the U.K.I was diagnosed with Macardles in 2006 after 2years of blood and ECG tests gave no definitive answers the biopsy test confirmed what my Rheumatologist had suspected.I have found this very hard to understand as I was always active in my youth playing Rugby Union until I was well into my thirties, and my daytime job being a Milkman walking nearly 10 miles per day and bending down to deliver/pick up milk bottles 400 times per day.As i got into my fifties however the punishment on my body through 20 years of Rugby and 30 years of delivering milk in all weathers (usually rain here in Manchester) started to take its toll and I developed both Rheumatoid and OsteoArthritis.This I could live with as it is able to be kept at a reasonably low pain threshold with drugs. But when I started to get body cramps after very little exercise this confused me.And as I say my Rheumatologist confirmed I had Macardles, I started to look online for more information and found this website. It’s nice to know you’re not alone, especially when your specialist says it’s only 1 in 50,000 that get it,we must all have computers then judging by the number of posts.I find like others that if I stick to a fish/chicken/pasta diet with plenty of fresh fruit and veg and no red meat it seems to alleviate the symptoms, and the weather does definitely have an effect, as when it’s cold and damp I suffer more, but last year on holiday in Florida I felt 20 years younger.Anyway I know it’s a cliche but don’t let it get you down. Brian.

Also David.. The test is just usually done in the forearm I think for ease of the test only. They just need to get a tissue sample of the muscle. I think the forearm is the most common area for the test to be performed. Remember please do not take all that I post for fact it is just in my experiences with the disease but I hope it helps. They are many genetic diseases of the muscle the only way to know is to be tested. God Bless!

@Stephanie
I went through two perfectly normal pregnancies with McArdles disease. There is a very good theory now that the mother’s also benefit from their babies because they are receiving the myophosphorylase that the babies make. We receive it from them via the umbilical cord just like they receive their nutrients from us the same way. I must say that I felt more like a normal person than I ever had in my life when I was pregnant.

David
I had my muscle biopsy done in 1973 that is when I was Diagnosed with it. The Dr that did my biopsy knew of Dr Slonim and helped me to schedule an appoinment with him I went to him for over 10 yrs, he is a wonderful Dr. I had a lot of great progress with him. He tought me alot about the disease and how to control the swelling and cramping. I can now live pretty much a normal life. I wish you the best of luck.

Stephanie,

That is very interesting. It also supports much research I have done on symbiotic connections for curing patients for many types of illnesses. Hook up a healthy mouse to a cancerous mouse and the tumors on the cancerous mouse disappear. McArdles could be cured in the same manner but this is a treatment that may take many years, if ever, for our medical community to accept.

@Alex
i was diagnosed with mcardles at the age of 13 im 23 now im learned to deal with it i was oakland children’s hospital for 3 weeks
the doctors were dumfounded.

Hi. In my search for answers I just stumbled onto this site. I am 58 years old. For two years I have had difficulty walking and the muscle cramping etc that is described regarding McArdles. I’ve had multiple other problems for about six years with fatigue, etc., but this is more recent. In the past couple of years I have even needed a wheelchair at times. After trying to walk a short distance I just stopped and could barely move at all. My breathing would become very labored. Then my leg muscles would hurt and burn like fire for about two days. I’ve never noticed the dark urine. At times I have a very odd gait (my husband says I walk like a rag doll or a the scarecrow on Wizard of Oz). I have had severe hypoglycemia and my doctors just tell me to eat more. Hello! I was eating every two hours very healthy food, and drinking protein drinks between meals and still losing weight.
I’ve been treated with hormones. One doctor thought it was adrenal and put me on cortisol. One doctor thought I had MS, another a myopathy. Then a neurologist said I had a neurotransmitter deficiency and put me on anti-depressants which I couldn’t tolerate. Now, I am treating myself with amino acids and I am much better, but still very limited. I was in water therapy for three months and that helped some, but land exercise just does me in. Really it’s land use, not exercise. I was not a strong child, but I didn’t have these kinds of problems. Before this happened I could walk a brisk mile with my husband, no problems. Am I looking at a possible late onset of this condition? What kind of doctor do I seek and what do I ask? Thank you for any help and advice.

David, I’ve read some of your postrings and am concerned that you are taking vitamins which may or may not be beneficial if you have McArdle’s
Disease. Your EMG does not give a definitive diagnosis of McArdles. The
“gold standard” is the biopsy by a top neurological team as Lucy suggested. Only then should you begin vitamins, supplements or
medication designed to be beneficial to a McArdle’s patient. Earlier,
I posted some suggestions for those who have the disease – they can be
helpful. Mostly, you need a firm diagnosis – by biopsy. Let us hear
your results. Best of luck. Jim

hi,im a 13 year old girl who was just diagnosed about 2 weeks ago and it has been very hard to do act how i am, but this all started bout 1 mounth ago after i got a cold, i realy like hearing you guys story

Has it really been this long since I’ve done any web inquiry about McArdle’s disease?
The main resource for info during my wife’s first pregnancy over ten years ago was thru the Muscular Dystrophy Association. (By the way, the MDA recommendation of a glucose IV during labor was definitely on target–to keep the voluntary muscles from going into energy debt.)
Have any of you dealt with the “Oh, you’re just being lazy!” responses from people before you were diagnosed? My wife even had that reaction from a rheumatologist!–but after the diagnosis, he had the audacity to ask if he could test the rest of her siblings to do some research on McArdle’s. She’s the only one of all of her siblings to be officially diagnosed, but one other could tell his own stories.

Hi Russ, Rebecca, Erica and all of you with the bad “M.”

I am 72 and have had “M” since birth. I am lucky to be alive today
as our “wonderful doctors” seem to feel most of us have something
other than what we really have. By the great Cleveland Clinic, I
was told I had “mitochondrial myopathy.” I did not. Others said I
had “Rheumatic Fever” – wrong again. Finally, after a painful, second
leg biopsy, Dr. Haller of UT medical Center in Dallas, Texas correctly
diagnosed the bad “M.” The point is most doctors are too busy to do the
rather simple research to find the real problem or to refer away a
patient with a high CPK, pain, leg cramps, etc. A few well-targeted
questions and the answers start to open up. The point is “we” must
spread the word to the medical field any way we can to recognize
that “M” exists and there are specific things we can do to improve
our quality of life. Many of you have mentioned the times when you
were told you were lazy – that’s so very sad. In my own life, failure
in sports, backyard tag, helping the wife with chores, taking a walk
around the block and not being able to finish and nearly drowning
three time have given me a new understanding. Yes, there is psychological pain, but the joy of an explanation helps a lot. As
for most of you, you now have the answer. A new world includes the
ability to adapt, to accept the facts and to recognize YOU must denand
from your expensive doctors the answers on nutrition, vitamins, diet
and exercise. If they will not help, find someone who will. That has
been my course. Some little things I have learned which you might want
to check: B-6, light exercise every day you feel up to it, more protein,
a good greens formula, drink more water, a good multivitamin, 8 hours of sleep every night, less salt, less sugar, less caffeine, no smoking,
read more on “m” and be glad you’re alive. Obviously, you need to TRY
to get your doctor’s approval on what you do – if he will help you.
Well, that’s enough out of me for one posting. Good luck to each of
you! Let me know your results! Jim Ottesen

My 18 year old son will have a biopsy next Wednesday to confirm what high CPK results, twitching/cramping/fatigue symptoms, and a failed forearm test pre-diagnosed McArdle’s today at the neurologists.(Exhausted after 30 seconds of squeezing). My question is: does the biopsy usually come from the bicep? My son has most cramping from calves and I wonder if the biceps will show the same results? Is this the most common muscles to biopsy?

Rebecca, You are so very right – few physicians even know McArdle’s
Disease exists. Those that do are almost always neurologists -
most at major medical centers. I’m sorry the biopsy confirmed “M.”
There is rarely just one thing that gives an “M” patient complete
relief, but there are many little things that might help. Because you
are worried about your kidneys, be very careful of physical stress -
know your limits and do not be brave to test those limits. Next, drink
lots (within normal limits) of water – it will help to flush your kidneys to minimize risk. Do you work or go to school? How old are you?
If you drive, get a “handicaped sticker” to avoid long walks. When and
why do you have pain? Is it localized or all over? Ask your doctor if
you can take 100mg of B-6, CoQ10, a multi-vitamin and a good greens formula. If he says “OK” which I suspect he will do, get started toward
changing your life. It is easy to get discouraged with “M”, but that does not help you. Only a program to start moving forward will improve
things for you. Don’t take any more pain pills than you need and try
real hard to know when and why the pain comes. How high is your CPK and
how often? Ask your doctor about the relatively new medicine that
enhances energy without too many side effects. I can’t remember the
name, but my neurologist said she would prescribe it if I wanted it.
Minimize sugar, coffee, salt and stabilize your weight. Well, that is
a start, but check with your doctor so we can push forward. You
mentioned you had physical therapy – for how long – and what was the
objective? To try for “better” – we must understand where you are now.
I am not a doctor, just a person who has been around a while and one
who cares about any person suffering from the bad “M”. Jim Ottesen

Rebecca, I agree with Lucy on many issues. In fact, every day I take my
egg protein (egg whites) powder scoop which is mixed with carrot juice
and my greens mix for an energy boosting juice that helps your muscles
and your whole body.However the matter of exercise for you is of concern
until you provide more answers to my questions.You need to be very cautious with your exercise. You suggested that you have a physician
who has been treating you – is he familar with the rearch done for
McArdle’s patients? If not, perhaps a consult with Dr. Slonim or
Dr. Haller in Dallas, Texas might be instructive. I feel, for the
time being that a low level of cardiovascular exercise – approved by
your doctor – is essential. However, I stil need the basic answers
to move forward. You can reach me here, of if you prefer, jott440148
@aol.com. Jim Ottesen

@Bebe
Bebe, Your case is very interesting. Have you had the biopsy
for McArdle’s? Your complaints sound like the bad “M”, but also
suggest the possibilty of other issues – particulary fibromyalgia.
It seems to me that your need your neurologist to rule out the
aforementioed diseases by biopsy and medical testing. Late onset of
McArdle’s is not unusual, but we need more facts and a biopsy, ischemic
forearm test and average CPK levels. All the meds you take and have
taken sound like some doctors that are responding to complaints with-
out a solid confirmation of a specific disease – I’m familiar with that
pattern of response. This site gives you the names of some doctors who
will give you nothing until your disease is proven by testing. It is time to make the move up to defining the real issues so your life can
begin the journey of living successfully with the bad “M”. Let us know
your results, their suggestions and how we can help. Jim Ottesen

Rebecca, I was diagnosed at Wake Forest Medical center in 2005. I was given the news by a genetecists although I can not remeber her name. But Doctor Caress a neurologists was the doctor that suggested that I may have the disorder before testing. He runs the local chapter for the MDA in Winston Salem. Duke University was actually the ones that found it in the samples taken and sent to them. I have tried every thing mentioned above but L Carnatine and L Alanine is the only thing that cuts my injuries way down.

Jim, thanks for your comments. Yes, I found the info regarding the doctor in Dallas. I live in Texas so that is an option. Right now I am doing better, bad days and good days, both without specific exercise, but I am able to do routine things. I am taking l-carnitine as well, along with an amino complex (20 amino acids), and something for brain energy which has l-tyrosine and l-phenylalanine in it. I also take quite a lot of magnesium for the muscle pain, and that with the l-carnitine seems to help the pain a great deal. I also want to thank God for His marvelous help. I believe in prayer and He has helped me in so many ways, so many times. You’re right. I have not had an actual scientific diagnosis by a doctor; the tests are either negative or inconclusive; they all seem to think they just know what it is, or they are stumped and just make guesses. The neurologist said neurology is a trial and error science. Anyway, I am grateful that in my own research I discovered these amino acids that seem to be helping me greatly. Oh, another thing: one reason one of the doctors thought I had MS was because my left eye stayed dilated almost all the time, but since I have been taking the amino acids, that has gone away completely. My eyes had been extremely sensitive to light for about a year and dilated for months. They are fine now. I don’t know how this relates to McArdles, but it’s my experience. I will keep you posted. Thanks for listening and offering your comments. Bebe

@Denise Hodges
Denise, #133 refers to hand weakness, but in answer to that question,
depending on the level of enzyme remaining in your muscle cells (if any)
and depending on the activity prior to movement, weakness in the hand
would certainly be possible. In my own case, I could not even lift
my legs and could have become a frozen statue on a street corner at
the Cleveland Clinic one day in February. However, I believe you meant
to indicate # 138, which I will try to answer. The best location to
take a McArdle’s Disease biopsy is the middle of the thigh
muscle. Often, a needle biopsy will do the trick, but some doctors still
insist on the operation format to remove more muscle tissue. While
several tests may be performed to see if another disease exist, you should DEMAND that they confirm or rule out McArdle’s Disease. Often,
Mitochondria Myopathy may look like the culprit, but is not! I would
also suggest that your son did not fail the ischemic forearm test. I
might have also been “totaled” after 30 seconds as well. No, the
purpose – which is known by now – is to determine the relative response
of lactate levels when compared to a normal (no “M” disease) person.
I would want that information before you go to the biopsy step. Cramping
in the calves is not a surprise – in fact – it is a problem I experience
every night. In view of their intent to biopsy the biceps, the fact
that you do not have the other results I would suggest you question the
qualifications of the team directing this procedure and the number of
patients they have identified with “M”. Why do they want to do the
biceps instead of the preferred thigh muscle? Again, I am not a doctor,
I am just a patient who has learned a lot by reading and by experience
and I want to help people. Please let me know the results of the ischemic
test, the levels of CPK and where the procedure is being performed.
Also, let me know if you have any questions. All is probably OK,
but it is your son and you deserve some answers. My very best wishes
are with you and your son Jim Ottesen

Ross its nice to know that im not the only one around here. The only DR that saw me was DR. Beekman a rumatoligist. He told me i was the only one but he also told me he didn’t know how to help me are what to really do. I have tried to find someone that knows something about ‘m’ but i haven’t been able to i need someone in the high country of nc or no farther than Winston ‘thats 2 hours away” Can you give me the contact info for Dr. Caress thanks or your comment.

Jim i read your other entry on the other page. I am constantly in rhabdo that’s why my rumitoligist believes my kidney’s will fail iv’e been in the hospital i don’t know how many times my stay is anywhere from 2 days to a month and my cpk never comes down enough even if i don’t even get up to go to the bathroom that’s just laying in the bed. The dr.s have got to where they don’t even admit me anymore for my rhabdo because it doesn’t do any good. And i’ve never seen a nuerologist. No one has even suggested that before. And about becoming addicted to the meds. I have thought about that to the family dr that treats my pain keeps it very regulated i have a addiction counsler there at the office and a pain group the dr requires i think that’s a great thing for anyone who has to take pain meds. just one more thing about the cpk when i’m in the hospital it keeps going up instead of down even though i’m on constant iv fluids and other meds to flush out my system. I am trying to find a nuerologist i think there really might be something going on with me besides just ‘m’. Thank you for your concern having someone to talk to that understands helps alot.

@Denise Hodges
Denise,

Please let me know how things went with the biopsy on your son’s biceps.
Also, the results of his ischemic forearm test. He did sound at risk
for “M”, but we can always pray and keep our fingers crossed, If the
diagnosos was “M”, did the doctors provide suggestions as to diet,
exercise limitations and CPK blood checks? I hope to hear from you.
Jim Ottesen

@rebecca Roark
Rebecca,

I am happy and relieved to hear you are on the way toward help
with your problems. You have suffered so long, you deserve relief.
I have been worried about your kidneys and the possibility that
other issues may be involved. Keep us posted. Good luck! Jim Ottesen

Rebecca,
http://www1.wfubmc.edu/neurology/Faculty/Caress.htm#
Follow the link above. It should provide all the contact info you need. I am sorry it takes so long to reply to questions. I live in the foothills of Wilkes. We may be neighbors. God Bless!

@rebecca Roark

Rebecca,

Please have the doctors evaluate all the meds you are taking. Just a stab in the dark, but this could very well be complicating your situation. One of the doctors told me that statons like for cholesterol and some pain and psych meds can cause the rhabdo to come about in McArdles patients. Worth a closer look. Never hurts.

@rebecca Roark

@rebecca Roark
Rebecca, Have you contacted MDA yet? Your news is not good.
As I have suggested, You need to gather ALL your records and see
a neurologist and nephrologist ASAP. Hasn’t your doctor suggested
a kidney doctor? Or is he just keeping you posted? You’ve been told
by your rheumatologist you have the risk of kidney failure. You
need to get help soon. It seems you are delaying the inevitable.
We care, but you must make the move. Good luck! Jim Ottesen

I tried to contact the mda. They said i have to have a refferal because of my health insurance. My family dr has agreed to give the referal for neuro and he said that neuro would give the refferal for a kidney dr. But he said he didn’t think that my insurance (nc medicaid) would cover a kidney dr unless my kidney’s shutdown. The insurance is already throwing a fit becuase i have to go to the dr so much. My ssa lawery said not to worry that he would deal with the insurance. And no no one has suggested any dr i’ve been telling my family dr that i want theese refferal’s. He said he would but he didn’t think it would help i told him at least it was anoher chance that my health good get better.

Ross and Site Adm, Thank you for your comments as to L-Carnitine. Today
I took my first 500 mg and all is well. In a few days I will know
more as I have a personal trainer who helps me along every Tuesday
and Thursday and by Friday I should have some idea as to how I will respond to my experiment – I’ll keep you posted. Perhaps it might
be of benefit to another person – we’ll see. We are all different
with different issues. More soon. Jim Ottesen

Bebe, Thanks for the information. To you I say “AMEN.” To help me (and
hopefully others) my test with L-Carnitine is underway at 500mg and
after a couple of days all is fine. In fact, I think my energy levels
were better today – I hope so. I still feel the doctors, researchers and
experts could do more to give us better guidance on diet, supplements,
exercise and cautions for the “average” patient with McArdle’s Disease.
Please keep us informed on any results from your diet and supplements.
None of us are physicians, but it would be great if they read these
postings as I feel all of us could benefit. Our personal thoughts have
great value, but without the doctors concurrence, the limits are
clear. We will never stop trying to help! Jim Ottesen

Hi everyone! I am 28 years old and was diagnosed with Mcardles when I was 18. I had my first major flare up with rhabdo when I was 15 but the doctors didn’t do a biopsy until I was 18. I don’t even know where to begin. Over the last year it has been a constant struggle for me. My condition seems to be getting worse. My ck levels go up and down all the time now and I am in constant pain. I was on pain med and then I switched doctors recently and he sent me to a pain specialist that I see Friday. The time with out meds and no pain control in between I have been in and out of the hospitals. I feel like I live there. It has caused major depression for me. I have a wonderful fiance and 8 year old son. I feel so bad because they are always with me and I feel like I am just going down hill. I went to see my neuromuscular doctor on tuesday and they took some blood and are going to pull some of my muscle tissue that they still have and send it to bailor, Texas to have a bunch of tests run on it that weren’t available 10 years ago. I have been reading some of the postings on here and it feels so good to hear some of the stories and know that I am not the only one that has and is going through all this. I have been there when the doctors think you are drug seeking and it is awful to know you have something that even most doctors haven’t heard of. I see one of the best muscle doctors I think there is. I guess I am just writing on here to get some advice about what some of you may have done when it gets this bad and you feel like just giving up? Is your pain controlled well? What works good for some of you? I feel like I have tried every medicine there is. Please help or someone atleast respond!

@Jennifer
Jennifer,

The first reaction is one of shock and disbelief. How could this
be happening to me? But it has. So we get busy to define as clearly
as we can the extent of the disease, an appropriate diet, exercise
limitations, helpful supplements, periodic CPK tests to protect the kidneys, visits to your neurologist for pain and cramping and a ppositive attitude that things could be much worse. You must take
control of your problem! Don’t let it control you. Most of us have some
pain, but we limit the meds to only what is absolutely essential. See how your doctor can help you. Ask him if your “M” could be complicated
by another neurological issue like fibromyalgia. You need more help from your neurologist. Let me know what happens. Things WILL get
better for you. Good luck! Jim Ottesen

P.S. The typing demon typed five “limits” instead of five “minutes” -
I’m sorry for the error.

Rebecca Roark,
Haven’t heard from you in a while. How are things going with you? OK I hope. Keep us updated. Find me on face book and send me a message along with a friends request.

Ross Vestal

@Lynn
Don’t worry. I had my biopsy when I was 18 and I was scared to death. But he did it in the office and he numbed the area before he actually cut and then numbed it more once he was into the muscle. I watched the whole thing and to be honest the worst part is the shots that numb the area. I am really interested in what you find out because I also have constant pain and it gets worse with any activity as you had mentioned. I have read almost every post on here and yours caught my eye because I seem to have the same symptoms and most others get pain when they are going into rhabdo. My neurologist is testing my muscle some more to see what else could be going wrong. So please let me know what you do for the pain. I have tried many different pain meds and I also see a pain specialist but I would like to know if something works better than others. It seems like we are kind of going through the same thing. If you have anymore questions about the biopsy, feel free to ask. Keep me posted and I will the same!

Lynn, Any updates on your condition? On 10-21-09, your posting suggested that your doctor wanted to do a biopsy – did it happen?
It certainly sounds like McArdle’s Disease, but so many of the
neuromuscular diseases mimic each other. There are four or five
metabolic diseases, fibromylagia, mitochondria myopathy, arthritis, etc.
that I feel your doctors might be evaluating, but they need to identify
the culprit to give you the best treatment for your pain. Having been
misdiagnosed by one of the most prestigious hospitals in this country,
I urge you to ask many questions as to what the doctors suspect and
what other screenings they will do if “M” is not the answer. Keep us
posted. Good luck to you! Jim

Hi!
I have had leg cramps since I was in my early teens. Over the years they have gotten worse and worse and now I cramp up in almost every muscle in my body. It is usually exercise induced, mild exercise! My legs feel fatigued whenever I stand very long. And, I can no longer crouch without cramping up. Does this sound like McArdle’s? –Jane

I have found this website to be very helpful. I had never been told not to have an anaesthetic & have had several including 3 with a tourniquet. Hindsight is a wonderful thing this may explain a few things for me as I had a lot of trouble Post op with full body tremors, feeling so cold, very low oxygen levels that they had to keep me on nasal tubes for a while, a great deal of soft tissue swelling for a very long time as they did extensive work on my forearm. Since this time I have a permanent impairment in this site with constant burning pain on use, cramping, muscle weakness that I have had to learn to use the other hand as this was my dominant hand & at times if I overuse it I can’t even hold a pen to write. I could never understand why I couldn’t strengthen this arm & I am starting to wonder if this is M taking us residence in the injury site. The muscle fatigue even in simple things comes on so quickly in matter of seconds. For many years it was only in my legs now it seems to be spreading. Has anyone found as you have a muscle injury does M seem to spread to this area as well. My neurologist shocked me when she told me what could happen with M as my family never told me anything when diagnosed, and I am glad that they didn’t when I was 17.

Hey Rebecca,
You could try drinking isotonic sports drinks like gatorade. That helps me out.

Hi Everyone,
my name is Chris and I am from Athens, Greece. I was diagnosed with McArdle’s disease when I was 17 years old. All this time, I though ignorance is bliss and I never looked up McArdle’s disease on the web. I know it’s not the wisest thing to do, but that was my reaction.

I have to say that my life is pretty “normal”, I do what all “normal” people do, the only thing that differs me from the others is that I dont work out, as my doctor suggested.

The thing is, that as I see here, many of you, do work out and I am sort of confused. Working out may end up in ruining my muscles or not.?
Can anybody help me on that one?

can i also add , when any of you had the biopsy done were you left with no feeling in your leg as this has happened to my daughter . her leg from her thigh to her knee is numb

I have some good news. I saw another Dr at my physcians office and he said that he would get me a kidney specialist and hopfully that Dr will have some insight as to what i can do to prevent renal failure. I feel i am moving in the right direction and mostly because of the inshight i have gotten from the comments on this site. So thank all of u for pointing me in the right direction.

Dear Site Admin and dear Jim,

I would really like to thank you for your time and concern. The info you provided me with, was really useful. I spend a lot of time reading what people have written in this forum and i would like to send out a message of optimism and hope, to all these people whose lives have been struck by this disease. Although I suffer from Mc Ardle, I have managed to obtain a university degree, an MBA degree and to publish my own hip-hop record from Sony Music Greece.

Anything is possible, and set backs like Mc Ardle, shouldn’t be obstacles for finding happiness and success. PS: Please excuse my poor english, I’m more fluent when it comes to Greek language..!

Chris,
We thank you for giving us the opportunity to be of help. As you know,
McArdles is a very complex disease and, most of the time, those
afflicted with the disease are most able to help with the many
day to day issues which all of us experience. The doctors seem to
be more content with their diagnosis than guiding us through the
living experiences we face every day.
We congratulate you on your amazing accomplishments and wish you continued success with your music and your life. Your attitude for
overcoming obstacles to find happiness and opportunities in ones private world is a lesson to all of us. Please let us know if we
can ever be of help again. God bless you! Jim

@Jim Ottesen
Greetings from a new member. I have something similar to McArdle’s but not able to get a firm diagnosis of the problem. I’ll write up the whole history here one of these days. I wanted to mention that Biotin has cured my night time muscle cramps. I was one of many supplements that OSHU Neuro tried when ’shot gunning’ various treatments. I did not help with muscle fatigue but the leg cramps went away. I’ve tested this several times and within a day or two of stopping the supplement, cramps return. Just wanted to pass this on in the ‘for what it is worth’ department.

I live in The Dalles, Oregon and we are building a cabin in the North Idaho Panhandle (near Sandpoint) so I shuttle back and forth and have limited access to Internet when in Idaho.

Has anyone here had contact with the Saulk Institute? They are doing some interesting research on insulin resistance.
http://www.salk.edu/news/pressrelease_details.php?press_id=204

@Mario
Mario,

Sorry it’s taken so long to reply. Protect that kidney!!! Do light exercises but definatly exercise. I understand about heavy manual work. I’ve worked in a manufacturing facility for the last 15 years and have gotten hurt many times. If you get tired or in a position where you could injure yourself just stop for a few seconds to relax the muscles. Never worry about what anyone may think of you. The disease has a tendancy to cause even more problems in hot and very cold weather so be extra vigalant during these times. Stay active, never exercise to the extreme and you may want to look into supplements. I have mentioned in above post what helps me which is certain amino acids but I would advise you to do your own research and tell your doctors about the things you are planning to try before doing so.

God Bless my West Coast friend.

Hello,

I have had the symptoms of McArdles disease for as long as I can remember. I first remember trying to play chase and always running out of steam and then later on PE class in grade school and looking out of the window seeing the kids running back and forth across the playground at the end of semester for the 600 yard dash. Even in 3rd grade I can remember worrying about it all day long, knowing I would be the last one and how ridiculed I would be by the teacher and other kids. I was always a small kid, never on the chubby side until I was older, and certainly looked healthy enough to run and play. It is embarassing to say, but in Junior High I tried jumping off of my friend’s barn in hopes of breaking my leg and not having to run the 360 yard dash. I still see everyone standing on the sidewalk and yelling for me to get the lead out, being the last one. I then had the bright idea of joining band in high school and that was really a problem, however, by this time I had discovered the second wind phenomenon and if I could just push through the pain and heaviness in my legs, sometimes I could manage to avoid having to stop and have everyone notice there was something wrong with me. Except for that one time at half-time with all of those people in the stands when I just had to walk off of the field because I couldn’t make my legs keep up any longer. Shortly after that the band director replaced me with someone else. I wasn’t upset though. I was just relieved. Everyone always thought that I was lazy, but like many others notes that I have read, I had the same tricks such as stopping to tie my shoes, looking at something on the ground that had caught my eye, staring in the store window, etc. I have had some severe injuries over the years such as the time my family and I went on vacation and I tried to swim the length of the pool to impress my children, only to injure my legs so badly that I was in agony the entire night in the motel room and could hardly walk the rest of our trip. Then there was the time when we went camping and going to the restroom meant squatting and I hurt myself severely again. This time there was the cola colored urine and a trip to my doctor the next day. He wasn’t very concerned even when I had brought in a rather odd colored urine to him (it wasn’t dark by then, just cloudy), but because my brother had been diagnosed with McArdles a few years earlier, I asked him to do a CPK level. The next day I got an urgent call from his associate (he was out of town) asking what had happened to me because my CPK level was 30,000 and this particular lab stopped counting at 30,000. Lucky for me I drank lots of fluid and recovered without being hospitalized. Shortly after I saw a neurologist in the DFW area who was affiliated with MDA. I wish I could say I felt better after seeing him, but I didn’t. I have to say though that this particular doctor had muscular dystrophy himself and from his viewpoint I guess he couldn’t understand why I would be complaining about muscle aches when I could still walk and he couldn’t. He told me he didn’t need to do a muscle biopsy in order to confirm McArdles because I had so many symptoms that indicated McArdles, not to mention that my brother has McArdles by confirmed muscle biopsy, along with the cola colored urine and the elevated CPK which has been documented as elevated even when I didn’t have an injury. I am writing this because recently I have been having muscle spasms more frequently and would really like to see Dr. Haller in Dallas whom my brother has seen. My brother really felt so much better after seeing Dr. Haller and knowing that all of his muscle pain and inability to keep up with everyone else was really a medical problem and not something “in his head”. I had another episode last week and was in agony all night, waiting for morning to call my doctor’s office. I called them at 8:30 and was told that they didn’t want to see me and I just needed to go to the emergency room. What a waste of time that was. The physician there decided I had “gastritis” and sent me home with a prescription for Pepcid (I’m already on Prevacid), Hydrocodone (took 10 mg every six hours the night before and didn’t do a thing to help my pain) and something for nausea (I wasn’t nauseated). The pain continued for 5 days and I finally went to my doctor yesterday and he was obviously very irritated with me that my symptoms weren’t what he felt they should be for back spasms. I don’t know if anyone else has this problem, but the pain will start in my back and feels like contractions. It causes my stomach to hurt too. He said that was more indicative of something like pancreatitis so now he is sending me to get a sonogram. I don’t think it will show anything. I suppose I am just rambling now, but I am wondering if I should see Dr. Haller and get the muscle biopsy. I am 52 years old and I don’t really know what it will accomplish. I know I have McArdles and if the biopsy came back negative, I would be absolutely astonished. I guess more than anything, I would just like to have confirmation and actually be able to talk to someone who didn’t make me feel like I had an imaginary problem. Even when I mention to the doctors in the ER what I have, I feel that they look it up online and the first thing they see is “inability to exercise”. Funny thing, most of the injuries I have incurred haven’t been from exercising. I even injured myself once rolling out dough to make a pie. LOL. I just wonder if anyone else feels the same way. In closing, I would like to say that I consider myself very fortunate in so many ways. Luckily I don’t suffer every day from McArdles and I am still mobile. There are so many more severe forms of muscle disease. With that being said, I would like some confirmation that all of my problems are not “in my head” as I have been made to feel lately. I did call Dr. Haller’s office today and was told that my doctor would need to fax my records. I just hope that he will see me. For once in my lifetime I would like to see a physician who understood.

Site Admin or other “M” patient,

A recent genetic test for a friend showed the following:
There was a partial analyze of a gene PYGN (V). In first exon of gene
there was a mutation Tyr74Stop ( in heterozygous condition ).
That is all. Any ideas? I’m leaving for Christmas holiday tomorrow,
but should return by 12-28 and hope that some of you “detective types”
can help me help a person in need.

Thanks for any effort. Merry Christmas and a Happy New Year!

Jim

@Sue
Sue,

@Site Admin
Site Admin,

Thank you very much for taking the time to interpret the genetic
information I sent in my last posting to you.

For those interested, your doctor can order biochemical genetic
evaluation for GSD V (McArdle’s Disease)from Duke University Medical
Center in Durham, N.C. by providing appropriate blood samples. The
phone number is (919)549-0445 or fax number (919)549-0709.

Please keep us posted if your doctor uses this service. Jim Ottesen

Ruth,
Good advice on the “B” vitamins. I take all the “B”’s and a multiple
vitamin as well. B-6 is OK to a max of 100mg. The 6 to 8 glasses of water a day plus plenty of protein, vegetables and fruit seems to keep
me going. I supplement with carrot juice, a greens powder, Coke and
nutritious snacks. Complement with a dash of light exercise, and I’m
almost a normal human being. In spite of some difficult moments, I
avoid muscle stress or pushing myself too hard as I want that CPK to
hug as close to “normal” as is possible for a “M” person.
Best wishes,
Jim

finola :can i also add , when any of you had the biopsy done were you left with no feeling in your leg as this has happened to my daughter . her leg from her thigh to her knee is numb

I just ran across your post. This happened to me. My biopsy was done about six weeks ago and I still have no feeling. I also get burning, sharp stabbing pains.

What have your daughter’s doctors said about this? How long ago did she have the biopsy? My knee doctor told me they might have cut the nerves in my skin, but I believe it was a peripheral nerve because of where the numbness is (nowhere near the biopsy). I’m sorry if you already answered these questions somewhere….I haven’t read over the board yet.

Thanks.. I hope your daughter recovers some feeling.

I came upon this wonderful website over a week ago while doing a general search for glucose issues, etc when I saw ‘McArdle’s’ come up. My cousin’s son was diagnosed over 2 years ago, and I think about him often -all he has been through and will continue to go through . And I feel for everyone here. My cousin and I did internet searched back then and there wasn’t much @McArdle’s then.

Last I spoke with her, she did mention trying a special diet for her son. This has been so traumatic for the family and my little cousin’s condition is severe -with the possibility that he may be wheelchair-bound by the time he’s 16 (he’s 14/15 now).

It’s been interesting to learn more about McArdle’s and I have a better understanding of what my little cousin is going through.

One thing I keep pushing out of my mind…is that I may also have this. But I didn’t come here for myself and although several symptoms, etc., fit too well, other things don’t. And I don’t want to upset anyone in the family and regret sending an email to my cousin to ask if she thinks I should be tested (because I’ve had adrenal dysfunction w/hypoglycemia…is all I mentioned) and she never responded.

I’ve been scared since reading about a lot of things that have happened to me. The slowest one in gym class (until I was a teen so I think hormones and a good diet and vitamins helped). But when I was 15 and traveled to Florida for the 1st time (with a drill team to perform @Disney), I couldn’t get out of bed the 1st morning (or the 2nd, 3rd or 4th). My back hurt so bad and I couldn’t move.

My chaperones called in a doctor and all I recall that he said (this was over 30 years ago) was that it was from the humidity affecting my kidneys (and is why my back hurt). I don’t recall the condition or color of my urine and have never had many issues with the color and never had a urinary tract infection either. This past year or so however, it’s been greenish at times…which I think is from the dye in my vitamins.

I rarely had sore muscles and only occaisional ‘pulls’ until my early 20’s. My shoulders, mainly. In my mid-20’s, I tore the ligaments, tendons and muscles from my hips to knees while playing softball…running to 1st base. My manager yelled at me for not warming up properly (I had done my usual).

I could never run fast or long. I did work REALLY hard and until my mid-30’s…I walked everyday and played a sport everyday. I also was in college and walked around campus (hills too), ran up and down stairs.

Despite being in the best shape I could possibly be in, I was always slower than other people who were physically fit. Always. the “2nd wind phenomena” – I know all too well so I relate to that totally.

But the past several years…no matter how hard I try I just keep getting worse. I did have a totaly hip replacement 4 years ago and that helped a little.

Standing hurts (my legs and back) the most and sometimes I walk fine, other times not. I can walk a mile+ and feel good -but may struggle getting back (and have to get the 2nd wind, etc). A mile is about my limit on a good day.

Even though I rarely get sore muscles (in fact, seems like there are times when I should but don’t) but I do get horrible cramps in my hands, legs, ankles and feet. And I get bouts where I get painful spasms, mostly below the knee (and in both legs). Sometimes my thighs and lower arms too. I’ve had them this week for 3-4 days now. Very painful last night (they’re not shin splints). 2x’s (years ago) I had them while actually in my docs office and he felt them (they can be seen too) and didn’t know what to make of them.

My thoughts are -with my continued and weakening…is that the adrenal issues, hypoglycemia (which is better) and hormone changes (post-menopausal) is causing the symptoms that seem to be similar to McArdles in some respects. I did have a recent creat. level which was normal (.7)..and assume this is the same as a CPK?

The doc who diagnosed me with the adrenal dysfunction (and chronic low DHEA) wanted me to follow-up with my endocrinologist. Who is useless since I’ve been complaining about a rapid heartrate and palpatations for years now and all he ever said was that it’s not my thyroid. I did follow up with him and he order bloodwork to check my a.m. cortisol (was abnormal low…he said that was ok) and then my p.m. cortiosl came back abnormal high…he said that was ok). So obviously- unless all of my levels are very low or very high, he’s calling this normal.

After I explained to my GYN that I was havig trouble eating (not hungry and got confused, etc., when I went too long without eating) and he said that’s hypoglycemia. So I had my family doc check my glucose level and it was abnormal low. The nurse in my endocrinologist’s office said this level was ok (it’s wasn’t terribly low…but I was no longer going days without eating then).

The day I had the glucose level checked…my blood pressure (which is always low) was VERY low. But my doc didn’t think it was an issue.

My GYN wanted me to follow-up with the endo to find out what is causing all this.

One thing I figured out on my own – when I started doing ‘mini-meals’ is that carbs knock me straight out. Evidently it’s simple carbs that do this so I’ve been eliminating known one’s. Can’t have even a small bowl of low carb cereal. And not even 1/2 bottle of Mich, Ultra.

So that’s another thought where I’d discount McArdle’s because I see here that it helps people. Or maybe it does unless you end up with adrenal dysfunction.

It’s been interesting to read this -although I really think it is very different to be a non-diabetic with hypoglycemia. My low glucose level was only 68 (still abnormal low) and jumped to 98 after a month of cutting back on simple carbs. Another important thing to remember is that when glucose levels go done, cortisol goes up. The diet I’ve been on (low carb, little or no simple carbs, high protein) has also helped to normalize my cortisol levels.

But something I’m doing or not doing is causing these painful spasms in my legs.

Honestly, I’m not trying to self-diagnose. I’ve had some improvement with treatment for the adrenal dysfunction (progesterone, DHEA and vitamin supplements + dietary) but now a bunch of other symptoms have popped up (more frequent leg pain and weakness, fatigue).

I can’t afford to have any tests done as my new year insurance deductible is sky high . But thought I may be able to get some feedback, any feel for anything I’ve written here that may be a ‘red flag’ for McArdle’s.

And meanwhile, I appreciate all this info as it relates to my cousin as he is in my thoughts and prayers. I wish the best of health to everyone here!

Pam

@Sue
Hi Sue
Yes I definitely recommend you get the muscle biopsy. It is better that you have a definite diagnosis. I have been given a letter of protocol that I keep with me, in my purse, at all times and I keep one in the glovebox in my van, in case of emergencies. It is there so that if I am in the ER or in an accident, the doctors will know what they can do to help me, if it is Rhabdo that I am suffering from. That is when the urine goes cola like in colour.
I also suffer from a lot of muscle pain, even doing something as simple as wringing out a cloth. It is so annoying at times. I helped my husband bring something down into our basement and suffered from muscle spasms in my forearma and shoulders for a few days.
But do get that muscle biopsy.
Good luck to you,
Ruth

I am 62 years old and have only just been diagnosed with McArdle’s. I have felt a tremendous sense of relief as it has answered loads of questions. I wish I had found out a lot earlier as I had a miserable time at school and all my life had been making excuses to avoid walking up hills or steps. My husband is very fit and always walks everywhere at a fast pace and was always getting very impatient with me. We would often go out and he would walk off refusing to wait for me. I think he must be feeling guilty. I have always tried not to mention too much about my problems to friends and I now find it hard to explain the symptons which Ihave not mentioned to them before. I suppose I have not yet come to terms with the disease and feel that it is unusual to have such a late diagnosis.
I am under a consultant at Sheffield Hallamshire hospital and have an appointment at a clinic in Oswestry. Has anyone else in the UK been to Oswestry – and was it useful? My consultant, whilst very helpful when I was diagnosed can tell me little about the disease. I read about the Oswestry Clinic via google and my GP referred me

@Lynn
Lynn,
Please let us hear how you are doing when you get a chance -
we are concerned about your condition.
Jim

@Ruth McKellar
Sue.

Do make sure, as the Site Admin said, to speak to your neurologist before insisting on a biopsy. There are a couple of other tests they can do as well. The biopsy is the best way to get a definite answer but the others can help with that too. Hope all goes well for you.
Ruth

Ruth and Jim,

Thanks for your responses. After hearing all of the horror stories on here about the muscle biopsy and the fact that it won’t really change anything as far as treatment goes since there is no cure, I will probably push for the ischemic forearm test or possibly genetic testing. As far as my neurologist goes (whom I have seen one time and never plan to see again), he stated that he had no doubts that I had McArdles disease. He based this on the lifelong symptoms of muscle cramping and weakness, elevated CPK (over 30,000), episodes of cola colored urine and a sibling with positive muscle biopsy for McArdles. He is affiliated with MDA in Arlington, Texas. He also doesn’t seem to have any interest whatsoever in McArdles disease. Even so, I still plan to have my internist fax my records to Dr. Haller’s office because I would like to speak with a physician who is knowledgeable with McArdles for once. It is my understanding though after talking with Dr. Haller’s office that he is currently doing a lot of research and isn’t readily available for appointments so I may be waiting a while.

Thanks again for your input. I really am glad to have found this site. It does help to have other people who know how you feel and be able to share with each other.

Sue

@Sonia Worthy
Sonia,
I’m 72 and I was diagnosed just two years ago. I understand your frustrations and many of your feelings. I tried walking with friends
until my slow pace embarassed me too much. I never told them, but should
have. We have a disease and seem normal so why can’t we do better? Well, folks simply need to be told we have a muscle disease that slows
us down. I’ve done that and most seem to understand. We must never stress our muscles to please others as acute kidney failure could result. Please read my postings on food, vitamins and supplements. Our
doctors often let us down, but we have a responsibility to learn as much as we can to live the best quality of life possible. My best wishes
to you. I hope you can find a good explanation of your disease on the
computer to share with your husband so he will understand. He is no different from any one else, they simply can’t understand that a normal
looking person can have very abnormal muscle conditions. I call McArdle’s Disease the Mystery Disease and intend to do all I can to help
the world understand our unique plight. Be well, my friend. God bless you. Jim

To all our “M” friends:
There is a movie we might like to see that will hit the movie screens
around January22nd. It stars Harrison Ford and is the story of a father
facing the reality of a serious neuromuscular disease, similiar in some
respects to McArdle’s Disease, but much more serious. It reflects the
father’s anguish, frustration and fierce determination to do everything
possible to help the two of his chilren afflicted with the disease (Pompe Disease). It is a story we can easily relate to as the disease
is caused by a deficiency in the enzyme that breaks down glycogen (sound
familiar). MDA was a partner that worked with the father to seek a cure, but I will stop here so as not to take away from the suspense of the drama. Since I have not seen the movie (a trus story), my speculations are: Could we somehow get this father to look at our disease and 2) Has the research done on a cure or treatment for Pompe
Disease been reviewed for any application for McArdle’s Disease. Not
likely, but there is always hope.
By the way, this movie was reviewed in Quest, the official publication
for the MDA. It is published quarterly and offers progress being made on
reaserch and treatment of neuromuscular diseases – including McArdle’s.
The cost is $15 in the US and the phone number is (520)529-2000. I support the MDA, Jerry’s Kids and the wonderful work they do on diseases
that seem to fall between the cracks.
Have a great day!
Jim

Hi all. The movie Jim was referring to is called “Extraordinary Measures”

Dear Jim,
The film with Harrison Ford is about enzyme replacement therapy (ERT) to treat Pompe disease. Unfortunately I don’t think that this would work as a treatment for McArdle disease. At the moment ERT is only used to treat lysosomal storage diseases. ERT works by injecting the enzyme into the bloodstream. It is then taken up by the cells. Anything which the cells take up are usually put into the lysosome, where they are broken down into smaller parts for reuse. ERT works for lysosomal storage diseases becuase the enzyme is taken into the lysosome – exactly the place it is needed. This wouldn’t work for McArdle disease as the enzyme is needed in a different place; the cytoplasm/sarcoplasm. (Please note: the enzyme needed in Pompe disease is different to the one needed in McArdle disease.) At the moment, no-one has found a way to make the enzyme be taken up by the cell and put into the cytoplasm. However, if a method could be found, this could be a possible treatment for McArdle disease. I am not aware of any scientists working on this as a treatment for McArdle disease at the moment, probably for the reasons I’ve just outlined.
Hope that helps,
Kathryn Wright (scientist working on McArdle disease)

Hello from Canada,
I am a 45 year old female from Ontario Canada, and I have been diagnosed with McArdles 9 years ago. Yes, I suffered all through childhood with episodes, but was told that I was lazy, and I actually believed that for most of my life. I still tried to be active with my peers, bike-riding, soccer, swimming, running, and climbing hills. I always had to stop because my legs felt like they each weighed 500 lbs, and if anyone even breathed on me when I felt like that, I would not have the strength to hold myself up from falling down. So I just kept on trying, and decided in my 30’s that I was going to get fit, so I joined a fitness club, and lifted weights and did cardio every morning for about 1.5 hours daily. So needless to say, I was in constant pain, with black urine and very painful muscles. I had always heard “No Pain, No Gain”, and figured that I must be getting really fit. I could not increase the weight or activity level after 1 and 1/2 years of this, and started to have really severe chest pains one morning, which I thought was a heart attack. I was lucky enough to have a CPK level done which was well over 40,000, and was sent to emergency and stayed in for 4 days until my CPK was at 1800, through intravenous fluids. I had a muscle biopsy done 1 month later, and within 4 days, started seeing a Neurologist. 3 years later I was diagnosed with Type 1 Diabetes, which has really made controlling the McArdles a lot harder, but one thing I have come to realise is that when I walk, I start out slowly and then towards the end of my journey, I really book it and walk as fast and I can to raise my heart rate, and for the most part do not get tired as I have already gone through my break down, and the second wind is working. Could anyone who has diabetes with McArdles please reply, or if you know someone, I would love to hear from them. Thank you.

Dear Diane and any McArdle patients who might have surgery/general anaesthetic,

Don’t forget to make sure that your surgeon and anaethetist know that you have McArdle disease. McArdle patients seem to be at an increased risk of malignant hyperthermia, which can be a side effect of some muscle relaxants (and could be life-threatening). If you remind them and make sure they know about McArdle disease and also about malignant hyperthermia, then they can avoid the risky drugs, and take special care during the operation. I *think* that this is only a risk with some of the drugs which are used, and can be reduced/avoided by using different drugs.
Kathryn

Kathryn,
thank you for your input on the malignant hyperthermia. I was unaware of this. I have had several surgeries in the past, and whenever I do, I always tell them I have McArdles. The one thing that I did know was not to be tourniqueted during exercise, I wondered if that also applied to surgery? I have had two surgeries already on my one knee, and one anesthesioligist, I know, would not allow me to be tourniqueted. I think this would be important to know before having a knee replacement, or any other type of surgery where a tourniquet might be necessary. I did speak with Dr. Slonim about this on the phone (I have not seen him in person) and he said that if I decided to have my knee replaced, he would speak with the surgeon. I thought that was most kind of him. We are all out here depending on info from one another to help answer lifelong questions. I am very fortunate in that my brother too has McArdles and we have been a good sounding board for one another. Thank you for your interest, and the alert about malignant hyperthermia. I know what hyperthermia is, but have never heard of malignant hyperthermia. Can you explain, or reference this for me?

Best regards, Diane Gaasch

I am 58 and diagnosed 2 years ago. My brother was diagnosed 12 years ago. I did not know what this disease was until I mentioned it to a doctor. I had been on statin drugs for high triglycerides and had high CpK levels that did not go down. I had a muscle biopsy that confirmed the disease. I always had a problem with exercise, similar to other stories I read here. Right now I am having a great deal of difficulty with the side-effects of Zetia and Niaspan. I took Zetia for 2 years, also to reduce triglycerides and cholesterol. My cholesterol levels are normal; 200-214 but the doctor put me on Zetia to lower it. The problem for both Zetia and Niaspan is the muscle and joint pain. I experienced pain for a long time and attributed this to McArdle’s. I am seeing a neurologist for the pain. I believe that McArdle’s complicates this and makes the muscle pain worse. My question to anyone is; what levels of Triglycerides have you experienced with McAdle’s? I have had eleveated Triglycerides for 25-30 years with the borderline high cholesterol yet my heart is healthy.

I walk on a regular basis but cannot walk at the moment.

Genetically we inherit the gene from both parents and there is a 1 in 4 chance of getting it. There are 10 children in our family, so we follow the statistics well!

Kathryn and Jim

Thanks for your comments its really good to hear from people that understand. I do stop any exercise as soon as I feel my muscles stiffen and now seem to have a lot less pain. I am off to Oswestry tomorrow with a list of questions

Jim Buchanan,
My doctor never prescribed any statins to me for my high triglycerides because we knew of the dangers with McArdles, but he did prescribe Triglyde which is a med that targets just triglycerides. I now take a generic form of the med which is called fenofibrate 134mg which has been very effective. This and staying away from false (corn syrup and high fructose corn syrup) and refined sugars will reduce your trigliceride levels significantly. excessive sugar such as soda and sugary snacks will cause high triglyceride levels. @Jim Buchanan

Jim,

Sorry you’re having so much pain, but would like encourage you to
watch your CK, take a good multi-vitamin, do a greens formula, add
some protein, buy some sour cherry drops and check with a cardiologist
on the issue of your statins (remember COq10). Often, out of a lot
of strange ideas, a light goes on and works for you. That’s my hope
in your case. You deserve a break from the pain – keep fighting with
your doctors and don’t give up