What is McArdle’s Disease?

What is McArdle’s Disease?

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

An Overview of McArdle’s Disease

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

About This Website

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

407 thoughts on “What is McArdle’s Disease?

  1. Jan Weekley

    Hi, EVERYONE!!!

    This is amazing!!! I’ve been reading things that are very much like myself. I do not have a diagnosis, but I keep noting how different I seem to be from other people who don’t have this disease.

    In recent years, I’ve had bad trouble taking Zocor (a statin). I’ve wondered why.

    Lately, I have been traveling. I cannot keep up with the groups. I’m 59 and people who are 20 or even 30 years older than me are keeping up just fine. I’m sitting on the bus or am having to walk and rest, walk and rest, etc., or I’m just in pain – legs and feet cramping. I’ve been told that I’m pretending, lying, trying to draw attention to myself, etc.

    When I was growing up, I had some similar problems, but they did not interfere with my life that much. I’ve always had the “exercise/rest, exercise/rest” problem.

    I could list many other issues which are affecting me that have been touched on in these posts, such as pre-diabetes, kidney problems, muscle cramping, AS, etc.

    After returning from my last trip about 2 months ago, the thought occurred to me that I might have something wrong with my muscles. ( My heart had been checked rather throughly before and nothing significant there.) BINGO!!! Right away, there was McArdle’s Disease. It sounds just like me.

    Now what?

    I am afraid of being LABELED and having problems with my INSURANCE!!!!

    Any suggestions?

    Thanks!
    Jan

    Reply
  2. Jim Ottesen

    Lynn,

    Thanks for your thoughts of encouragement to all of us.

    From what you’ve posted, it does not sound like you have McArdle’s Disease, but your trip to Mayo should develop infomation on exactly what you do have. I wish you good luck on those findings. The key is
    to never give up on your efforts to obtain a correct diagnosis bassed
    on proof from the tests performed. Yours is a very interesting case
    and I hope you will keep us informed.

    Best regards,

    Jim

    Reply
  3. Lynn

    Hi everyone. I want to try to respond to some of your questions and let you know a little about what’s been going on with me. As far as Mayo Clinic goes my doctor has faxed my records to them and I am suppose to be getting a call within a few weeks. When I hear from them I will be sure to ask about what testing to expect.

    The neurologist I have been seeing actually specializes in MS and other neurodgenerative diseases. In the beginning, this is what it looked like I had. I’ve been with her for two or three years now. I’ve stuck with her because she has really worked with me and believes in me. For a while, I wasn’t progressing, now I am. I beleive she sees that she cannot help me, but she is trying to get me to someone who can. She refered me to a Neuromuscular neuro who could tell something wasn’t right with me, but dismissed me after a few negative tests. I asked him about the forearm test and he didn’t think it was necessary.

    I really do not feel as if I have “M” anymore. I do have some symptoms of “M”, but, as I said before, I share more in common with mito patients…even my medical history and family medical history.

    Kathryn, thank you for the information. If I’m reading the biopsy report correctly, it looks like my myophosphorylase levels were normal.
    I was hoping to get a skin biopsy because I’ve read that it can be helpful in diagnosing mito.

    Here is some of what my biopsy report says: Only minimal changes are seen, specifically a minimal increase in variation of diameter of muscle fibers, rare atrophic fibers of both fiber types, and a slight tendency for type 2 fibers to be slightly smaller than type 1. There might be a minimal component fo type 2 fiber atrophy…..There is mild perimysial adipose tissues disposition (does anyone know what this means?)Oh, it says reactivity for myophosphorylase is present.

    I guess I really don’t belong here, but maybe my story can help someone. I think one of the reasons my neuro focused on “M” is because of the exercise intolerance I have. But, I don’t usually get a second wind. I have a family hx of migraines, had cyclical vomiting as a child, developmental delays, eye tracking problems, ptosis, digestive problems, shortness of breath, and neuropathy.

    Thanks for all of your help. I so appreciate eveyone’s input. I hope that maybe I’ve helped someone by posting here. What I can tell eveyone who isn’t diagnosed is don’t give up!!

    Lynn

    Reply
  4. Jim Ottesen

    @Lynn
    Lynn,

    Just a note to see if you have all the information you need and to see if you made the call to Mayo. I’m curious to see how they respond before I recommend them to other McArdle’s patients.

    Hope to hear from you soon.

    Best wishes,

    Jim

    Reply
  5. eduardo lopez

    Hello
    My wife (32) has McArdle’s disease and just found out she’s pregnant. We’re really concerned that her constant abdomen cramps will lead to a miscarriage. Any advise about this disease and pregnancy?
    thanks very much

    Reply
  6. Jim Ottesen

    Kathryn,

    Thanks for the insights. On the ischemic forearm test, when both the
    lactate and the ammonia fail to increase, the lack of movement in the lactate dictates McArdle’s Disease, but if the ammonia fails to move
    to norm what does that suggest?

    Also, many doctors use different ways to achieve the “M” diagnosis. In
    my case, they went directly to the biopsy (which they messed up), but
    it is only my opinion that if “M” is suspected, the easier path to the
    diagnosis would be the genetic evaluation, then the non-ischemic forearm
    test and then the biopsy. I know about the “second wind” test, but forget that possibility (I “failed”that test).

    At what CPK or other specific level, is the hospitalization for IV treatment required as compared to home rest with lots of fluids. In
    my case, the CPK was a relatively mild 7,000, the kidney function
    abnormal, the liver enzymes abnormal, the Hemastix on higest level, but
    the GP sent me home for rest and fluids. Clearly, the hospital was not
    on my desired itinerary, but I just wondered if there were a rule of thumb guidance.

    Some folks have symptoms that resemble other neuromuscular diseases as
    well as “M”, shouldn’t they go straight to the biopsy option. I know you’re not a doctor – nor am I – but to help others, a plan for diagnosis would be helpful. In my case, most of my doctors (including the Cleveland Clinic)seem to lack a consistant pattern to reach the McArdle’s diagnosis. It almost resembles a hit and miss series of events.

    Thanks.

    Best wishes,

    Your “M” friend,

    Jim

    Reply
  7. Kathryn Wright

    Hi Lynn,

    You asked whether muscle glycogen phosphorylase (also called myophosphorylase) could be missing from just some muscles. The answer is that if you have McArdle’s, you don’t have myophosphorylase enzyme activity in any of your skeletal muscles – these are the muscles you normally use to move – for example, the jaw muscles you use the chew food, thigh muscles and leg muscles, and arm muscles. Muscle biopsies are usually taken from the thigh, calf or bicep. If the muscle biopsy shows the absence of myophsphorylase, then a diagnosis of McArdle’s would be made. If myophosphorylase is present, McArdle’s would not be diagnosed – but see my note below. There is a different form of the enzyme in smooth muscle (the muscle of the intestine, internal organs, womb) – so these muscles are not affected in people with McArdle’s.

    An important note for people having a muscle biopsy is that you should not have it just after muscle damage. (Muscle damage is usually indicated by muscle cramps, pain, and a high creatine kinase level.) After muscle damage has occurred, the muscle cells rebuild themseleves. During the rebuilding, they produce another form of glycogen phosphorylase enzyme. Once the rebuilding is finished, this enzyme stops being made, and usually myophosphorylase is then made (but not if you have McArdle’s). If a muscle biopsy was taken while this rebuilding is occuring, the other form of glycogen phosphorylase enzyme would give a positive result in the test – and you would incorrectly be told that you didn’t have Mcardle’s.

    Another note is that a very small number of McArdle’s people have a very low level of myophosphorylase activity (sometimes called “residual activity”). As a rough guide, if you have less than about 50% of “normal” myophosphorylase activity, you will have some McArdle’s symptoms.

    However, assuming that the muscle biopsy was not taken immediately following severe muscle damage, and that they performed the test correctly, the muscle biopsy test is quite reliable. If you were told that you have normal levels of myophosphorylase activity, this suggests that you do not have McArdle’s.

    On the topic of diagnosis, McArdle’s can’t be diagnosed by a skin biopsy. Skin cells also produce a different form of glycogen phosphorylase, not myophosphorylase, and therefore are not affected in McArdle’s people.

    One clue to what you may have would be the results of the ischaemic forearm test. Do you know whether the results were “normal”, or if any unusual rise in lactate or ammonia (or lack of a rise/increase) was seen? Unusual changes are not diagnostic just of McArdle’s, and can be seen and used as clues to diagnose several other conditions. Hopefully the person who carried out the test will have looked at the results to see if they provided any clues for diagnosis.

    Hope that helps,

    Kathryn

    Reply
  8. Marcelo Argentina

    Hola, por aca de nuevo. Ayer yo lei que el Dr. Weinstein David de la Universidad de Florida esta trabajando sobre la cura en enfermedades de glucogeno. Aunque no me especificaron si es sobre Mc Ardle.
    Alguno de ustedes sabe algo sobre el trabajo de este doctor?
    Bendiciones

    Hello, here again. Yesterday I read that Dr. Weinstein David, University of Florida is working on a cure for diseases of glycogen. Although I did not specify whether it is on Mc Ardle.
    Any of you knows something about the work of this doctor?
    Blessings

    Reply
  9. Jamie Hess

    Hi, my name is Jamie. I am 29 years old. I’ve had McArdles since I was a small child. My father has it, as well as 5 out of 9 of us kids (me counted) as well as one cousin. It amazed the doctors to realize there were so many of us in one family. They want us to do genetic testing as a family. I’ve always had the muscle fatigue and cramping when walking (uphill is the worst) and running. The muscle spasams started when I was about 16. My first spasam that sent me to the ER was when I was 20. My muscle in my upper arm was like a rock and the pain was so horrific. Since then, I’ve had many many more painful spasams and several ER trips. The doctor prescribed my Flexeril for when I have a spasam and it tends to help about 80% of the time if I take it right away after the cramping starts. The last ER trip was 1 1/2 yrs ago after climing 2 flights of stairs. I had a muscle spasam in my left leg. After giving me as much pain meds and muscle relaxers possible, the ER doctor realized that the leg had went into compartment syndrome. They transferred me to the hospital that my neuromuscular doctor was at. I was in the hospital for 15 days, had to have 2 surgeries to first relieve the pressure and cut out damaged tissue and muscle and another surgery to do a skin graft to close up the leg. My neuromusclular doctor had never heard of a McArdles patient having compartment syndrome from a muscle spasam. It was a horrible painful experience that I hope none of you will ever have to go through, but I thought I would share anyway just so you are aware it can happen.

    BTW, I’m so glad that there is a support site like this one. Its nice to have a place to talk about our experiences!

    Thanks,

    Jamie

    Reply
  10. Jim Ottesen

    Lynn,
    Going to the Mayo Clinic will NOT be a waste of time if you heed those
    suggestions I made earlier. You, your doctor and Mayo MUST all be on the same page. You will also need copies of all med records, reports,
    doctor’s concerns and a letter outlining ALL of your pain, symptoms, concerns, problems, medications and those specific activities that seem
    to cause you pain or discomfort in any way. Things like droopy eyelids,
    etc. can all be very meaningful when all listed together.
    No, McArdle’s is a gene defect which manifests in the muscles – everywhere, but mostly pain comes from skeletal muscles which are used a lot. The muscle cells need the missing enzyme (myophosphorylase),
    which is missing in “M” patients, so they don’t get fed the sugar they
    need, so they scream out in pain. When really hungrey, they gobble up
    adjoining muscle tissue, but that’s another story.
    You’re not “hogging” the forum – it was designed to inform. You and I continue to inform. Best of all, we worry about you and want to help you.
    I have seen low vitamin D and B-6 in other patients – it seems to be a common complaint. Be sure to take supplements where shortages appear.
    Vitamin D helps your immune system and supports bones and the utilization of calcium.
    Lynn, you have my personal e-mail address so write me any time directly or here. Sometimes folks have issues they might not want to broadcast
    on an open blog so write me whereever is best for you.

    Please let me know when you can get into Mayo, but start your preparations soon as sometimes it takes a time before you can get in.
    Call and start getting together all the “stuff” I said you will need.

    Let me know how things are going.

    Jim

    Reply
  11. Lynn

    It looks as though I will be going to the Mayo Clinic. I am so afraid it will be a waste of time. I’m just not sure I can go through that again. Our insurance will cover a lot of it, but we will have travel and hotel expenses. Once I know that they have accepted me, I am going to find out what they plan on doing. I agree that it needs to be done right if I’m going to do do it.

    In the meantime. I am having the blood test for McArdle’s done. I am still planning on emailing you the biopsy report Jim. I’m wondering if McArdle’s is one of those things that might only show up in certain parts of your muscles, I mean could it be there and be missed by the biopsy. I really would like to know that.

    I am so worn done with feeling bad and not having answers. I’m sorry I’m hogging this forum.

    Oh, I do have a low vitamin D level…I believe it was like 24. I am not always real good about taking my vitamin D, but I do have some to take.

    Thanks for all of your help. I’ll try and correspond by email. If anyone wants to email me, my email is shalynn@aol.com be sure to put McArdles in the subject line so I don’t delete. I hope it’s OK that I share that here.

    Reply
  12. Diane

    Jim and Lynn,

    Thanks Jim, I am doing well. I am seeing a PT for the next couple of weeks to help with some back problems. She has helped me before and is familiar with MD so is quite cautious. I was able to snow shoe twice last week for three hours. The first 20 minutes were the usual stop and go and then I was okay.

    Have you been to the hematologist yet? How is your recovery going after the “weight lifting” incident?

    Lynn, I hope you are getting some results to your tests. I did not mean for you to not pursue seeing what else was going on with you, such as McArdles, or something else. I just did not want you overlooking some thing simple to check which might also be going on. That was the case with me…if I hadn’t made an off hand comment to the doctor, I would still be blaming MD. Vit D deficiency, along with B12 can cause a host of problems, some of which can be major!! Hope you get some answers soon.

    Blessings,
    Diane

    Reply
  13. Marcelo Argentina

    Hola, escribo nuevamente. Mi intervención anterior fue el 12 de Mayo de 2009 y ALBA lo tradujo al ingles el 28 de Junio.
    Queria comentarles que he enviado mi muestra de ADN a España. Un laboratorio esta trabajando con un raton modificado. Es un buen augurio, saber que alguien esta en busca de una solución para McArdle, aunque tal vez no sea para todos por igual.
    Si existe algun afectado en Argentina, me gustaria ponerme en contacto.
    La solución a McArdle esta en nosotros, mantegamos la Fe.
    Un abrazo

    Translate by google
    Hello, I write again. My previous speech was on May 12 2009 and ALBA translated it into English on June 28.
    I wanted to comment on them that I have sent my DNA sample to Spain. A laboratory is working with a modified mouse. It is a good omen, know someone is looking for a solution for McArdle, although perhaps not be for everyone.
    If there is any affected in Argentina, I would like to contact me.
    The solution to this McArdle in us, I encourage
    .
    A hug

    Reply
  14. Jim Ottesen

    Diane,
    Great comments for Lynn. McArdle’s is blamed for a host of problems,
    but it can create lots of “things” that can confound even the doctors.
    As for me, whenever I see pain after muscle stress, early fatigue on
    exercise, lack of strength, unexplained high blood sugar, high CPK,
    excessive tiredness, unable to keep up while walking a distance, muscle
    pain or cramping for no apparent reason I feel one must see a neurologist to rule out McArdle’s Disease. Other related issues can be
    RLS, sleep apnea, high blood pressure and elevated liver enzymes.
    It is truly a very complicated disease as is apparent in the general
    lack of even knowing the name “McArdle’s Disease” by most of the doctors in America. And, a lack of knowing the essentials in the diagnosis and treatment of “M” in the medical community. It is sad.
    Lynn, please keep up the effort to find your answer – you deserve an
    answer after what you’ve been through.

    Diane, I’m hoping you are doing great. It is great to hear from you.
    God bless,
    Jim

    Reply
  15. Diane

    Lynn,

    I’ve been reading some of your correspondence. You spoke of energy problems. I too had this. I thought it was being caused by the McArdles. I mentioned it casually to my doctor and they ran blood tests for Vitamin D and B12. I was very deficient in both. I take a RX of 50,000 units of D every week, tapering off, hopefully to once a month. It has helped tremendously, along with sublingual B12. It is a simple blood test to run, and if not taken care of, VitD deficiency can cause major problems!!! It might be worth a shot, seeing if you have more than one thing going on. It seems with McArdles, we tend to blame everything on that, as I did. Thank goodness for my doctor’s forward thinking. Hope this helps, and hope you get some answers soon. I’ve known several people who have gone to Mayo for various things and have had good success. Good luck!

    God Bless, Diane

    Reply
  16. Jim Ottesen

    Lynn,

    I would like to see the biopsy, but if it says you do have the myo
    in sufficient amounts, you do not likely have McArdle’s Disease. Your
    neuro can review this and give you his opinion. I can review, but not
    give you a diagnosis. No, if you do not have “M” in the muscle, you will
    not find “M” in the blood. If your doctor says the biopsy does rule
    out “M,” you do not need the genetic test for “M” so save the money for
    another test. Your doctor should have done this by now – why has this taken so long. I’m confused. Help me understand. You seem to feel you
    do have “M” – is that based on your symptoms or your doctor’s evaluation? If doubt exists, the genetics test will be conclusive as
    to “M” and we should move on to the next possibility. My concern is that
    if the biopsy is not clear, the genetic test will be. Your risk is that
    your doctor simply doesn’t know what you have a nd that is why he feels you should go to Mayo Clinic and I agree if they can do ALL the tests
    necessary to find our exactly what yoDo theu do have. Some of your biopsy sounds like mine (“non specific changes” which means very little). However, the renown Cleveland Clinic doctor treating me felt I had
    Mitochondria Myopathy – a bad dude – worse than “M” by a large degree.
    So, you see, I’m concerned about you. We must know for sure.
    If you want, send me a copy of the biopsy, or e-mail to jott440148@aol.com. In the meantime, let’s pursue an answer. Get your
    doctors best direction as to the genetics blood test. Call the Mayo Clinic as he suggested and make sure they can do all the tests.
    You deserve an accurate answer. Your life is involved.

    Let me know your thoughts.

    Jim

    Reply
  17. Lynn

    Jim, Thanks for the info. You inspired me! I went online and got the info from Emory, called my doc’s office, gave the info to the Med Ast. She printed it up as we spoke and is going to give it to my doctor the next day she comes in. I feel like I have the ball rolling on that one. They will have to order it now, I still need to double check coverage with my insurance.

    OK, so I have a question for you. I noticed on my biopsy they did check the myophosphorylase (McArdle’s) and it looks OK. So, does this completely rule out McArdle’s then? Or can it show up in blood and not in the muscle.

    Thanks.

    Reply
  18. Jim Ottesen

    Lynn,
    Good to hear back from you. My personal e-mail address is jott440148@aol.com and you can mail to my home address at: 8721
    Tompson Point Road, Port St. Lucie, Florida 34986.
    As to Mayo, before you go, you must call their Neurology Department,
    and simply ask if they are fully equipped to perform a biopsy of the
    thigh to remove muscle tissue and rule out McArdle’s Disease and any other such disease, including neuromuscular diseases like Mitochondria
    Myopathy. Further, can they perform the non-ischemic forearm test to
    rule out McArdle’s Disease and finally perform the genetic evaluations
    to define the glycogen storage or other possible mutations to diagnose
    your specific condition. I know they will want a referral, but this preliminary data will help make sure going there will not be a disappointment.
    The McArdle’s blood test is a genetic evaluation which can be ordered by
    your doctor from either Emory Genetics Laboratory (404-778-8499) or
    Athena Diagnostics (508-756-2886 or 1-800-394-4493). Your doctor simply
    tells them you want to confirm or rule out McArdle’s Disease and they
    will give him the code number for the test, then send a local rep to either your home or his office, draw the blood in a prescribed way and
    FedEx it for express delivery back to them for analysis. Really simple – one phone call does the trick, but your doctor (preferably neuro) must first make his best guess as to what you have (McArdles, we
    presume) so the correct test is ordered. It may or may not be covered by your insurance – mine was. That’s the easy way to define McArdle’s.
    The test is extremely accurate. That is not an issue! The insurance company is always clueless, your doctor must call one of the companies (I used Athena ), tell them what he wants, and pass the bill on to the insurance company to pay. You may have to pay up front and try to get reimbursed later by insurance, but you will know for sure if “M” is your issue.
    Yes, McArdle’s Disease is EASY to spot on a biopsy, but ONLY IF your doctor told them to RULE OUT McArdle’s Disease. If the Pathology Team went in looking for “X” – they might miss “M”. Demand they go back and rule out McArdle’s Disease. You either have the enzyme or you don’t.
    Jim

    Reply
  19. Lynn

    Jim,

    Thanks for your suggestions. I am feeling quite overwhelmed with everything at this point. My baseline seems to be quite lower than it was before I got sick with the virus. If I do too much I’m in pain and end up back in bed.

    Anyway, I think I will call or email Mayo. I probably wouldn’t be able to get in until this spring by now anyway. The weather needs to be a little better before we travel. I guess I’m also afraid that we will go that far and come away with no answers. Although, deep in my heart I know something is terribly wrong with me.

    I did find my biopsy report and I can share it with you either privately or on this board. I’m open to sharing if it might help someone else. I’ve done some reading on biopsies and it seems as if they could have done more specific testing on mine. At this point, I’m worried that I actually have two illnesses; that really can muddy the diagnostic process even more. I seem to have such a problem with energy. A few things do seem more like mito to me. Back to the biopsy….should I just call me neuro and ask if we can have more testing done on the specimen?

    Can you give me the name of the McArdle’s blood test? My doctor wants me to have it done, but my insurance company seems to be clueless. Is that something that only one company handles (thinking Athena Labs)? I have the order for the blood test right now. Oh, do you know how accurate it is? Also, shouldn’t they have been able to find McArdle’s on my biopsy?

    I think I joined a group on Facebook. Is that the one you started? Maybe I’ll try to connect you through there.

    Thanks for your willingness to help.
    Lynn

    Reply
  20. Jim Ottesen

    E.B.,

    You did it! You are on. We look forward to your postings. Beyond this
    assist, when you open McArdle’s Disease.org, look at the right column
    and when you see my name or another name, just click your cursor on the
    subject. After you finish writing, use your cursor to click on “Submit
    Comment” and you are done.

    Good luck! Have a great day!

    Jim

    Reply
  21. E.B.McCall

    Since my contribution from an 84 year-old may offer some comfort to sufferers,what do I need to do to get it published on your blog.I don’t have a website.Can you e-mail me with an answer?

    Reply
  22. Jim Ottesen

    Lynn,

    Frankly, it sounds like they messed up the biopsy. If enough tissue exists, see if they will accept it at Washington University for analysis, but first see if they can do the tissue analysis for McArdle’s Disease and/or other neuromuscular diseases. The cost would be minimal compared to another biopsy. Forget the Cleveland Clinic as
    my first biopsy there ended up like your first biopsy: “nonspecific changes…” That means NOTHING. The CoQ10 is good regardless of the
    disease (I take 100mg at least twice a day). I also suggest you take 100mg of B-6 with dinner and a good multi-vitamin.
    Mayo would be a good bet, but first call them to see if they have all of
    the staff, equipment, personnel to do a through neurological examination
    including genetic testing for McArdle’s disease, a muscle biopsy and
    pathology team to interpret and diagnose McArdle’s Disease (and any others), the non-ischemic forearm test (a must for you) and a neurologist for any requisite follow-up. If they can respond in an affirmative way, see if your doctor can arrange a referral ASAP. The only blood test for McArdle’s is in the form of a genetic evaluation through blood that is drawn or muscle tissue examination. Further, you should DEMAND that whomever did your biopsy, simply take the tissue and re-do the pathology – they owe you an answer – you paid them for that answer!!! That’s what I demanded – and got – from the Cleveland Clinic. Ok, if you want, you’ve got some homework – good luck!! Please stay
    in touch.
    This may be more help than you wanted, but it should be of some help.
    We’ll be hoping for some good news from you.
    Best regards,
    Jim

    Reply
  23. Lynn

    Also, I’m not convinced my muscle biopsy was complete. I don’t think they checked it with the electron microscope (?)…they have saved some of my muscle tissue I’m wondering if I could have that checked?

    Reply
  24. Lynn

    It’s been awhile since I’ve checked in…a lot has happened. I saw my neuro a few weeks ago. She said my muscle biopsy was not completely normal. While it didn’t point to a specific disease, it did show some nonspecific changes. I can’t find the report this minute, but it showed some atrophy and differences in fiber sizes. But, the report says these are minimal changes.

    My neuro wants me to go to the Mayo Clinic. But I’ve wondered if Cleveland Clinic may be better? I’m at a loss at what to do next. I am going to start on Coq10 soon. I had a nasty virus last week, which left me unable to walk for several days. I’m recovering, thankfully.

    My neuro wants me to have the blood test for McArdle’s and I called my insurance and they can’t find it in their listing. I believe it is new. I feel as if McArdle’s is a possibility, but I have so much pain. Is that common with McArdle’s? I do have more pain on exertion, shortness of breath on exertion, and even have trouble talking at times. It’s as if I’m out of energy. My neuro thinks if it’s not McArdle’s that it’s mito. That’s what’s got me thinking about Cleveland clinic. I’m about six hours from there. Also, about three hours from St. Louis. Does anyone know if Washington University is any good for patient care? I know they do a lot of research.

    Oh, I know there are some tests that I should have had done already. The ischemic testing, for one. My CPK has always been normal, but my neuro thinks if I have it tested during a flare up that it would be high.

    Thanks for any help.

    Reply
  25. Terry Bishop

    I’m new to this site, just found it today. I’m a 47 year old male with McArdle’s. I was wondering if anyone knows if there’s a relationship between McArdle’s and high triglycerides. I work out twice a week with up to 30 lbs dumb bells. My triglycerides are always in the 400’s.

    Thanks.
    Terry.

    Reply
  26. Diane

    Jim,
    Sorry to hear about the anemia and blood issue. My neighbor just went to a hematologist, and she was quite impressed. I hope you have good results…let us know. Also, my VitB12 came back better, and VitD has improved considerably. When they read the CPK results, they sent it back to be redone…I had to laugh! I was pleased with the results…only 600, but I haven’t been able to exercise because of my knees, hip, etc. The Doctor was concerned, and wants to retest in two months. Thanks for the suggestion. I should have been testing it all along.

    Hope you are on the mend…your right, the Doctors must love us, we keep them in business. Take care of yourself.

    God Bless,
    Diane

    Reply
  27. Jim Ottesen

    @Diane
    Hi Diane,

    Well, as posted above, in a few weeks I’ll have a better idea of where
    I stand with diabetes – type II. At your suggestion, next time I have
    blood drawn, I will ask them to check my vitamins D and B-12.

    My latest concern is that one of the many blood tests showed anemia so
    I now have to see a hematologist on February 25th. I hope that is nothing of consequence. You and I have so many issues, I think the
    doctors must love us. But, we’re strong and fight on. The Lord helps
    a lot.

    My blessings to you.

    Jim

    Reply
  28. Jim Ottesen

    Kathryn,

    Thanks. I’m convinced your Handbook will be a real eye-opener for
    the world to see. I know it will have a positive impact on all of
    us who deal daily with the trials and tribulations of McArdle’s Disease.

    After I see the endochrinologist in March, I will post any results or
    comments as to my possible type II diabetes. I’m keeping my fingers
    crossed.

    Jim

    Reply
  29. Kathryn E Wright

    Hi Jim,

    The handbook will be available via the AGSD-UK website once finished. It will be available for people to download for free. I promise I will post a message everywhere (Facebook, here, GSDnet) when it is available.

    There does seem to be a relationship between McArdle’s and type II diabetes. There are about 3 published cases of McArdle’s people who have type II diabetes (also known as non insulin dependent diabetes mellitus). Normally insulin can act upon “channels” in the muscle cells, allowing the cells to take up glucose from the bloodstream. There is a paper called “Decreased insulin action in skeletal muscle
    from patients with McArdle’s disease” by Nielsen in 2002, which suggested that the high amount of glycogen in McArdle’s muscle cells might inhibit (stop) insulin being able to do this.
    Hopefully this link will work:
    http://ajpendo.physiology.org/cgi/content/abstract/282/6/E1267

    I *think* that this insulin resistance could lead to a feeling of low blood sugar levels, even though if they were measured, the blood sugar levels in the blood might be quite high.

    Kathryn

    Reply
  30. Diane

    Jim,

    I don’t know about anemia, but I have very low VitD which acts like anemia with extreme fatigue….I take 50,000IU (RX) of VitD once a week. You might have that checked also. If you go online and read about this deficiency, it is quite severe for many people…mimmicking some of MD’s side effects. I have Vit B12 deficieny also(fatigue a byproduct of this too), taking 2500mcg sublingually, per day. Just some thoughts! Hope you can get this under control. We’re a mess, aren’t we?? We all appreciate your efforts for us, Jim…thanks!

    Blessings, Diane

    Reply
  31. Jim Ottesen

    @Jim Ottesen
    Kathryn,

    You never call or write. Please just comment on my last posting to you –
    it would be helpful to all of us, but especially enlightening for me.
    NEWS FLASH: Today, my doctor called with a brand new “M” revelation.
    The other tests I mentioned to you earlier also revealed that I am anemic. Any studies or stats on that issue? If nothing on anything
    I’ve mentioned, please just respond “no data” and I will understand.
    Thanks for any response. I’ve tried to provide information to you for
    the “Handbook,” I hope you can at least let me know if I can buy one.
    Best regards,
    Jim

    Reply
  32. Ruth

    @Stacey Reason
    Hi Stacey. I was diagnosed with McArdle’s in ’06. I also live in Ontario. I am now 52. It is nice to know you are not alone with this disease. I am so grateful for these postings.

    Reply
  33. Jim Ottesen

    @Stacey Reason
    Stacey,

    Periodic updates are a good thing to do for those of us who have
    McArdle’s. “Stuff” we never expect seem to creep in and the sooner
    we detect them the better.
    From my earlier postings, You might consider Hemastix as a safety
    check if you ever suffer cloudy urine, muscle pain,or a feverish
    feeling. They can be an early warning signal to detect myoglobin
    before it goes too far.
    Best wishes,
    Jim

    Reply
  34. Jim Ottesen

    @Kathryn E Wright
    Kathryn,

    It’s me again! I think the high blood surar has become a more serious
    issue for me. The glucose levels have always high, but not diabetic.
    Recently, I got hit with a 7,000 CPK reading and had a complete check
    of all major readings which not only revealed a high A1C (6.8)and
    glucose at 114 (has been as high as 141), but elevated liver enzymes
    at 224 (SGOT) and 99 SGPT). My greatest fear is that I could end up with the risks of diabetes and/or liver issues. Have you seen any stats
    on these possibilities? I just might be the next diabetes addition to
    the stats and my less than brilliant doctor told me I need to exercise
    more (just got over rhab) and watch my diet (everything I eat is sugar-free). I responded to your query on Facebook on “frustration” with some
    thoughts, but this takes the cake!
    By the way, I would like to buy, obtain, or whatever I must do to receive a copy of the Handbook when published — can you tell me how to do that or put me on some list to get one. The address is 8721 Tompson
    Point Road, Port St. Lucie, FL. 34986 (e-mail: jott440148@aol.com).
    As you know, I do all I can to help others with McArdle’s Disease through my postings on McArdle’s Disease.org and Facebook – McArdle’s
    Disease and your Handbook would help me to “bring to the table” the
    most recent thinking and research on the disease. Although I’ve lived
    with the disease 72 years, there is so much more I want to know and share. While I know you get paid for your efforts, I also know you do it as a labor of love and compassion and I thank you so very much for
    helping to unveil the secrets of the”Mystery Disease” – McArdle’s.
    Thanks for any responses to my concerns and keep those questions coming.
    Your “M” friend,
    Jim

    Reply
  35. Diane

    Kathryn and Jim,

    As stated above, I seem to have low blood sugar. Whenever I am exercising for an exteded period, such as walking, hiking, skiing, I always carry raisins/and or peanut butter and crackers, or maybe a granola bar, along with water. When my energy drops, these usually revive me pretty fast. My brother does not seem to have any high blood sugar problems either.

    Jim…In answer to your question…I have my kidney function tested on a regular basis. Thanks for the “head’s up”….I’ll keep a close eye on it along with liver enzymes. The hemastix are a good idea, I’ll ask my doctor, and suggest it to my brother. Incidentally, when he had his first episode at the age of 16 in the 1950’s, he was lifting weights in gym class..he ended up in a wheelchair for almost a year….as I said, weights are a killer!!! Use with caution:)

    God Bless you back, Diane

    Reply
  36. Kathryn E Wright

    McArdle’s and diabetes

    Hi all,
    I’m curious how many McArdle’s people have diabetes/pre-diabetes/low or high blood sugar? There are a few published cases in the literature of McArdle’s people who are insulin resistant – which is type II diabetes and results in high blood sugar. There is a suggestion that this could be because of the high level of stored glyogen in the muscles. I’m wondering if diabetes (high blood sugar levels) is quite common if you have McArdle’s…

    Kathryn

    Reply
  37. Jim Ottesen

    @Diane
    Diane,
    Thank you very much for your kind thoughts!
    The “episode” was a bit of a shock and will force me to cut way back
    on my thoughts to become a “Superman” – instead I think I’m going to
    buy me one of those neat rocking chairs at Cracker Barrel. I now have three doctor appointments: My internist, urologist and cardiologist to
    make sure the “toxins” and stress are under control and that my kidneys
    are functioning properly. No more “leg lifts” for this cowboy.
    As to the glucose thing, I appreciate your thoughts. After I get through my current problem, I guess I’ll be off to an endocrinologist
    to deal with the sugar issue. With McArdle’s the problems never seem to
    just go away. By the way, when you get the blood tests, see if the doc
    will add a kidney function to the list and do a urine check for protein
    or blood as a safety check. Perhaps he will also do a script for the
    Hemastixs – that test is what warned me of the danger I was facing so I
    could take immediate action to protect my kidneys.
    I’ll pray for good results on all your tests. God Bless, Jim tests.

    Reply
  38. Diane

    Jim,
    Regardng high glucose levels and diabetes…I know that my sugar levels are more on the hypo side than the hyper side. I don’t know whether MD affects the incidence of diabetes or not…just that my glucose levels are on the low side.

    Also, am having blood tested this week for Vit D, B12 and CPK. I have not had my CPK checked in years, and decided it would be a good idea!!!Thanks for the suggestion. I will check it on a regular basis.

    So sorry to hear about your “episode”…weights are a killer!!! Take care of yourself. I always find that after a large “episode” it affects my stomach and I eat a lot differently….very “easy on the tummy” foods! I think the toxins must build up in our system after one of these bouts. When my brother had a major episode in the 50’s at the age of 16, he ended up in a wheelchair for almost a year and told he also had an ulcer, eating baby food for many months as a result. Of course, no one knew what he had at the time. After my first major episode, I called him and told him he did not have an ulcer, but it was a by product, I thought, of the toxins due to the “stress” on the body from the myoglobinuria, etc. Just some thoughts for those who might have the same reaction. Hope you are doing better soon.

    God Bless,
    Diane

    Reply
  39. Jim Ottesen

    Stacey,
    I noted the insulin and sugar issues Brenda mentioned and wonder if they bother you in any way. I try to avoid sugar as much as possible,
    but my glucose is always at the hign end of the scale. I’m certain
    there is a relationship to McArdle’s, but I’m going to see an endocrinologist to see how I vcan control the problem. I want to avoid
    diabetes at any cost.
    My most recent issue was with myoglobinuria as a result of taking an
    exercise class which included leg lifts while sitting in a chair. By
    the end of the day, the pain was great, my Hemastix reading topped the
    chart, and CPK had jumped to 7,000. It is so discouraging. You know
    exercise is essential to the body, but clearly I must be more cautious.
    Best regards,
    Jim

    Reply
  40. Carla

    Also, is there a way to skip the older posts to get to the current year 2010. Scrolling through 200 posts takes time to get down to the most current posts and our concerns. Thankyou , Carla

    Reply
  41. Carla

    Hello,
    I would like input about handling prolonged muscle spasms.
    I usually recover from an episode in a few days with rest and muscle relaxers. My latest episode has lasted four weeks with entraped nerves causing pain, swelling in thigh and calf with loss of feeling in foot.
    Symptoms are augumented by degenerative spinal discs.
    Main questions…1) muscles spasm relief
    2) does the alert about anesthetics apply to muscle
    relaxers such as cyclobenazpr
    Just found this site and recognize so many of the experiences.
    As a child Dad used to say “go as far as you can, rest, and then go some more.”
    This is still a montra I say just doing house chores, shopping, going to church.
    Just a word of encouragement.
    In 1982, I was told that I would be bedridden in five years.
    I taught school 18 more years after that.
    I did retire early, but stay busy at “Carla’s” pace volunteering in my community…..AND am not bedridden!!
    So breakdown all activites and persevere.
    Thank you for suggestions on the prolonged muscle spasm,
    Carla

    Reply
  42. Desla

    @Alex
    hello my husband found out he had McArdles when he was 19 he will be 48 next month all you guys out there your in for a rough ride. the more you work out the more muscle your destorying. he can walk but not very far.im not saying to stop but think how youll be at 48 i see the pain hes in and there isnt anything you can do. Winter weather is very bad for him if he gets too cold he can slip into a coma and possibly die from the cold. so everyone out there find out everything you can about this. Not many people know about this Disease.

    Reply
  43. Jim Ottesen

    Hi Folks,

    Today I saw the movie I mentioned a few weeks ago called Extroadinary
    Measures. It is the story of a father trying to save two of his
    children from Pompe Disease – a glycogen storage disease – around since
    1932. Up until recently, there was no cure and an early death was
    the prognosis. I enjoyed the plot, suffered the tears and almost cheered the triumphant ending. Since ours is also a glycogen storage
    disease, it is a film you will find interesting and entertaining. The
    thought that “There go I, but for the grace of God,” stayed with me for
    much of the movie. In our case, we still wait for the Harrison Ford
    character to come along and bring us the cure we seek.
    Jim

    Reply
  44. Kathryn Price

    My ten year old son has been experiencing exercise intolerance for years. He has been unable to run like other children and has no endurance. A lot of times he will vomit when he gets exhausted from playing baseball, football, or even p.e. at school. Usually, when he gets to this point, he has a severe headache. We are currently seeing a neurologist and he is in the process of sending us for a muscle biopsy to test for metabolic myopathy. One of the neurologist we saw mentioned McArdle’s Disease so I have been doing some research. I have known for several years now that something was different about my son when it came to sports or any type of exertion. He even has difficulty walking up stairs. I am curious about how many of you have vomitting and headaches after exertion.

    Reply
  45. Jim Ottesen

    To all my “M” friends,

    Just got word of my uncle’s passing, so I’m on my way tomorrow to
    Biloxi, MS. and will be gone through Friday.

    I mention this so Judy and others I communicate with will know
    my absence is temporary.

    Have a great week!

    Jim

    Reply
  46. Jim Ottesen

    @judy nulik
    Judy,

    It seems I somehow missed your posting. The greens formula I have used
    is “Green’s FIRST” which I purchase from 866-410-1818 (Doctors for
    Nutrition, Inc – http://www.DoctorsForNutrition.com) It seems to help me a lot, but follow the directions as to refrigeration and dose.

    I also suggest you have Brian take B-6 (to 100 mg) and L-Carnitine (to
    500 mg). You should ask your doctor to prescribe Hemasticks so Brian
    can check for blood in the urine. The CK should be checked whenever
    too much pain exists and quarterly to protect the kidneys.

    Let me hear from you. I’m sorry about not getting back to you sooner,
    but I was out of town for a time around the holidays.

    I wish you and your son good health.

    Jim

    Reply

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