The Only Realistic Treatment for McArdle’s Disease

As of 2008, the only realistic treatment for McArdle’s Disease is – somewhat ironically – exercise.

The physical (and emotional) discomfort associated with failure episodes characteristic of McArdle’s Disease often pushes people with the disease towards a sedentary life style.  If you consume sugary snacks or beverages as a way to try to up your blood sugar to power through episodes, you probably have it worse because the body ultimately outsmarts itself and interprets those snacks as “break time” and shuts your energy-creating enzymes down essentially, making you even more tired (this is not pseudo-science, but it IS an idiosyncratic characterization…there’s a difference.)

The reason sedentary people with McArdle’s Disease have so much discomfort exercising is the same reason any normal sedentary person does.  Their body has adjusted to just sitting around, and not having demands placed on it.  When you get up and push your body beyond the limits of what it is chemically prepared and equipped to do, you will feel initial resistance.  This is the same for all people, regardless of whether or not they have McArdle’s….only, with those of us who have the disease, this threshold is reached much quicker.

The way to effectively manage the disease is with diligence and patience and caution and perseverance.  There is in fact plenty of empirical data supporting the notion of a “second wind” phenomenon that people with McArdle’s disease experience following very careful, low-impact periods of warm-up exercise such as walking on reasonably flat ground for sustained periods of time.  Such folks are by no means “over” the symptoms, but they are able to walk almost indefinitely without experiencing failure symptoms.  It is in this “golden” period, following the warm up, that individuals with McArdle’s Disease are enjoying the normal benefits of exercise.

The secondary benefit of this is that, to some degree, their large muscle groups are now behaving somewhat like a normal person’s.  Blood circulation increases, the heart rate is up, and energy metabolism is occuring at a fast enough rate to sustain some physical activity.  It is in this “golden” period that an individual with McArdle’s disease MAY, depending upon their physical state of conditioning, be able to:

  • Play sand volleyball or moderately-paced basketball or soccer
  • Dance
  • Perform outdoor labor
  • Ride a bike up moderate or short inclines
  • Hike up and down reasonably large hills without failure
  • Swim (safely)
  • Paddle a canoe or kayak
  • Possibly even jog

It all depends on the individual.  Just like every other physical trait like hair (straight, or curly?), skin color (light or dark?), or height, how your body metabolizes energy and oxygen and how it reacts chemically to exercise is really inherently genetic and different from person to person.  So, know your limits, but by all means to carefully and diligently push your limits because this is how anyone – McArdle’s Disease or not – makes gains.

Keeping your body healthy is a little trickier with McArdle’s Disease, but the patience you are forced to employ in order to get exercise is something you will benefit from.  That’s more or less universal for all people with and without the disease.

Best of luck!

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27 thoughts on “The Only Realistic Treatment for McArdle’s Disease

  1. Stacey Reason

    I am in the beginning stages of my PhD thesis – McArdles Disease – barriers & impact of a delayed diagnosis.

    I’d love to connect and hear more about your thoughts & learnings!

    Reply
  2. Sharon

    I was diagnosed after developing chest pain at 30. I was treated for some unknown heart condition because my CPK was over 13k and no one knew what was going on with me. After 4 months, 4 different doctors, with 4 different opinions, I finally had a muscle biopsy to confirm diagnosis. Now as I am aging it seems like fatigue is more frequent and recovery takes far longer. The whole PE issue is like a re-occurring da ja voo. I was ridiculed in school because I couldn’t run. I even had assistant teachers run behind me and push because I was so impaired running. Sharon

    Reply
  3. Yasar Ayub

    Great Site! I have been looking for such a site ever since my diagnosis 4 years ago. I was 24 at the time and like many others with McArdles was misdiagnosed or simply thought of as being lazy and out of shape.

    Like Sharon I was also made fun of at school and picked on by the PE staff as I looked slim and healthy.

    Reply
  4. Link Shadley

    @Stacey Reason

    Greetings, Stacy and others. I may have McArdle’s or some other glycogen storage disease. Ten years of tests and multiple physicians and neurologists later, we still don’t have a clear diagnosis. I’m fairly open about this condition and would be happy to share my history, and keep you up to date about ongoing tests at Oregon Health Sciences University and Mayo. My symptoms match McArdle’s with the exception of no ‘second wind’ but a rest period allows me to resume activities for a short period, then need to stop again. Tauri’s Disease is a closer match, but this is insanely rare in adults (I’m a 63 y/o male, white/Native American, fairly active (for short periods )).

    Link Shadley
    link@shadley.info
    The Dalles, Oregon

    Reply
  5. Stacey Reason

    @Link Shadley
    Hi Link – I also did a few tests – but ultimately genetic testing led to a concise diagnosis. Although I was 38 when I was diagnosed, it followed on the heals of my first hospitalization for rhabdo – CK 120,000. I was fortunate to have been treated by a very curious nephrologist – it was he who did a thorough history & suggested McArdles.

    There are times that I too do not achieve ‘second wind’ – in fact for me I often have to stop many times for the first 15 min of activity – afterwhich I can be active on a continual basis.
    Stacey

    Reply
  6. Site Admin Post author

    Thanks for everyone’s input. Speaking for myself with regards to the “second wind” phenomenon, I’ve found empirically that my diet the day previous and prior to activity has the most impact on how quickly this second wind is achieved and with how much (or little) discomfort. There are days when I’ve eaten well; i.e., high protein, high fiber, decent amount of coffee, and barely notice the transition from resting state to “warmed up.” Conversely, there are days where I experience difficulty warming up and in fact may become hypoglycemic. These episodes of hypoglycemia nearly always follow excessively starchy or sugar meals hours earlier. If I eat almost nothing but protein all day and get some good anaerobic exercise like sprinting up hills for short bursts (after warm up, of course), then the next day my legs feel quite strong and I can ascend large, steep hills with very little trouble. It during moments like these that I feel normal, even fit as I watch “regular” people panting as we reach the top of the hill. I’m pretty convinced that simple sugars and starches may sometimes offer immediate “relief” but long-term over the course of many hours and days make symptoms much worse.

    Reply
  7. Stacey Reason

    I must admit – I have not been overly diligent with my nutrition. I would agree that it could help immensley.

    Reply
  8. Sabrina Thompson

    I was dianoised when I was 18 at UCLA. I am now 48 years old. I was one of the first women to be dianoised at UCLA. I have quit going to UClA because of them never being able to do anything for me. I have learned to live it Mcardles on my own and with my family. I had played sports in high school. I was even on Varsityl. After being yelled at by the coaches I took a desperation act to quit playing sports. I beat my knee up so I would never have to play again. It was not till after high school that I was dianoised. Thats when it all made sence. I used to walk up hills backwards when I was younger. I could not ride my bike with my friends and I could not do alot of things that my friends could do. Having had lived with Mcardles for 30 years now I have tried my best to live a normal life. But now all most 50 years old I find myself in more pain. I seem to be losing strenght in my right hand. I can not grip stuff like I used to. My back seems to always be swolen. But I know life could be alot worse. I do get the second wind.

    Reply
  9. Sherri

    I am 37 years old and I found out I had McArdles at the age of 16. My condition sounds alot worse than anyone else that has written here. I have had 3 episodes of dark urine . I had to be in the hospital each time for 5 days. My highest cpk was well over 130,ooo. I am miserable and I hurt constantly. I have had back surgery and I have an irregular heartbeat. I have no strengh and I am very weak. My 2 sisters have it as well and they lead a “normal life”. I have 2 girls and they are fine. I am glad everyone else is having good “luck” with there condition. I hope you don’t progress the way I have.

    Reply
  10. Paul

    I was going to post some of these tips over in the “Living with McArdle’s” section (and probably still will) but it looks like there’s more activity here that might benefit from it.

    I had a delayed diagnosis of McArdle’s (15 years of progressive decline), though I’m still fairly young (29 as of this post). I’ve been deeply involved with every stage of the diagnostic process though, and managed to work out some management strategies that might be of benefit to those here – especially because they work well in the long term, rather than sucrose-induced second winds and the like.

    First up: mitochondria are pretty good at their job, and readily burn fat stores if they can be made available (assuming there’s nothing wrong with breaking them down and putting the lipids into the blood stream). However, there’s a reason those fatty acids are used as a secondary energy source to glucose, and it’s not just because they store efficiently. Heavy reliance on a fatty acid metabolism (lipolysis) comes at a pretty high cost in the form of waste products and overall inefficiency: it doesn’t ever provide as much energy as glucose so the level of activity is lower, and the byproducts are not absorbed and recycled as readily.

    The biggest effect of relying on lipolysis so heavily is a form of mild metabolic acidosis, which can interfere with cognitive function (slow processing, memory issues, mental fatigue, even stupor, dizziness, slurred speech, unconsciousness or even coma) as well as physical strength (weakness, tingling); it can also interfere with the diaphragm, which isn’t normally noticed during wakefulness but can contribute to or cause symptoms of obstructive sleep apnea. So even when the body is working well at managing the side effects of McArdle’s by using other resources, the effects of the secondary metabolic channel can be just as crippling (if not more so – metabolic acidosis can easily accumulate faster than it can be processed, so it can have progressive and lingering effects for a very long time).

    There are a few possible answers: most McArdle’s sufferes know that a shot of sugars (or anything easily processed into sugars) can help, but that’s a short term and self defeating approach due to the weight gain. Another common one is simply to avoid strenuous exercise requiring the expenditure of energy in the first place (and that’s on a sliding scale of “strenuous” depending on individual ability). The last one, that I’ve been most excited about as I’ve been developing and relying on it, is to find a way to process and eliminate the acidosis.

    The answer: water. Hyper-hydrating provides they kidneys, responsible for eliminating acids and maintaining the pH of the blood, with the volume they need to do their job more effectively. For me, at 200 lbs., this means 1.5 – 2 gallons (US) of water per day. While not always convenient, the effects have been well worth the regimen – it’s possible to feel “on” or mentally engaged throughout the day rather than collapsing mid afternoon or slinking off to steal a nap in the car.

    There are times of course when this isn’t enough – the kidneys need bicarbonate in some form in order to properly neutralize the acids. Naturally this is secreted by the acid pumps in the stomach (oddly enough), and may be a reason why some McArdle’s sufferers also experience acid reflux. Supplementation with sodium bicarbonate (baking soda), depending on your weight and careful to watch the levels of sodium, can also help to super-charge the acid elimination duty of the kidneys. And when all else fails, take a nap – even a preventative one; the body does it’s best metabolic waste elimination during sleep.

    I’ve been on this for a few months now and, while it will never restore to me the full vitality of my youth, has changed my world dramatically. I’m able to exercise regularly (within the confines of the lipolytic energy – 2 miles on the treadmill 3 times a week), focus better in my work, and have even been able to diet since I’m relying on fat stores rather than blood sugar (a responsible diet, based on the Weight Watchers point system). I suppose that’s the one plus side to McArdles – since the glycogen is off limits, dieting can be super-effective under responsible, controlled conditions.

    Sorry for the rambling – hope this helps y’all.

    Reply
  11. Jim Ottesen

    @Link Shadley
    Link, It concerns me that you have been tested for years without a
    clear diagnosis. Has your testing included a biopsy and an ischemic
    forearm test? What are the levels of your CPK? You are certainly in
    great testing centers, but even the greatest ones can overlook factors
    in testing for “M.” The “second wind” issue varies greatly from one
    person to another so the lack of same would not be conclusive of anything conclusive. Frankly, by now, you deserve a better diagnosis. There are innumerable “things” – like
    mitochondria myopathy – that could be affecting you. To treat you – or minimize -
    the risk of ongoing damage to your body, let’s get “them” to at least
    “rule out” something. I would like very much to hear about any biopsy
    you’ve experienced and the results. Also, have your medical centers
    ever diagnosed a person with “M”? You’ve paid a lot of money for an
    answer – you deserve better. Jim Ottesen

    Reply
  12. Diane

    Hi! I am a 62 year old female with McArdles. I was diagnosed through an ischemic forearm test about 20 years ago. I had known I had it for many year before since my brother had been diagnosed with it in the early 60′s by a muscle biopsy. I have had pretty good success with exercise and fatigye over the years by comparing notes with my brother. I have been able to hike for several miles in the mountains of Colorado at high elevations, snowski, and walk 2 to 3 miles a day for many years, until the past few years. I have developed osteoarthritis of the knees and I am looking at having to have a knee replacement. To do this, they will have to cut my quadracep muscle which is of great concern to me, having McArdles. I spoke with Dr. Slonim about this but he was unsure of how this would work also. Does anyone out there know of any McArdles patients who have undergone a knee replacement? How did it go? Needless to say, since I can no longer exercise because of my knee, my McArdles is much worse.
    By the way, I have found that drinking a lot of water is quite helpful also. When hiking or skiing, I usually carry raisins, lifesavers, and nuts with me, besides water. Hang in thee everyone…any help on this would be most appreciated.

    Diane

    Reply
  13. E.B.McCall

    Having read some of the other contributions,I now have an ewtra piece to add.I have never ,repeat never,experienced the”second wind”effect,nor did my late sister.Incidentally,her death at 78 was caused by a too late diagnosis of breast cancer,and had nothing to do with McArdle.I have tried the high protein intake but found no benefit at all.In spite of my lumbar stenosis,I can still manage 9 holes of golf with the aid of a “walking”golf push trolley,provided that I stoke up with sugar or glucose before starting.Does McArdle keep blood sugar low because the muscles constantly draw it from the blood for energy?

    Reply
  14. Jim Ottesen

    E.B.,

    Since several of our McArdle’s Disease friends have diabetes and I
    am pre-diabetic, the suggestion that “M” keeps blood sugar low will
    not make the cut. Much of the needed glucose is absent to the degree
    needed, hence the inability to perform as desired. The body does increase sugar to the extent needed, but not nearly fast enough to meet
    the immediate requirements. While I also “failed” the “second wind”
    test initially, there have too many times that I have had to slow, or stop, activity for a brief period, and then experience renewed energy
    which just had to be the “second wind” phenomenon. As to the protein
    intake issue, I have experienced a meaningful benefit by taking 20 grams
    of whey or egg protein on a regular basis. However, McArdle’s hits
    everyone in a different way, some need more vitamins, more supplements,
    more carbs, etc. Others, due to medical issues or personal metabolism
    need less. I am 72 years of age and my needs are different from a younger person or you. I think it is incumbent on each of us to be
    aware of all the opportunities and to see what works for each of us.
    My suggestion to you is to make certain you have your sugar tested on
    a regular basis to protect you against diabetes or pre-diabetes.
    I, too, have lumbar stenosis, but can’t play golf, so I participate in
    a good exercise program at the gym. Cardiovascular exercise is a must.
    Best of luck to you.
    Jim

    Reply
  15. Jim Ottesen

    @Diane
    Diane,

    Sorry to hear of your need for surgery. While you may already
    aware of the risk of maligant hyperthermia from some anesthesias, I just wanted to suggest that your surgeon,
    the anesthesiologist, and the hospital be on notice that as a
    McArdle’s Disease patient, you require special care and attention
    to avoid a bad outcome.
    I can’t offer help on the specifics of the surgery or the specific
    muscles involved, but wish you the very best of success. Please let
    us know how things go for you. Jim

    Reply
  16. Diane

    Jim,

    You are very kind. Thank you for your “well wishes”. I am not anticipating any immediate surgery, but am preparing since it probably won’t be simple for me as a McArdle’s patient. I have found an excellent Doctor in St Louis who does a total knee replacement without cutting the quad muscle. I am thinking of calling or going to see him. He supposedly has excellent results.
    I have some other issues I need to resolve right now with my “good knee” which is going bad also and causing some other problems. I’m going to make an appointment with my physical therapist to see if she can reccommend a “course of action”. It is difficult to know which to treat first!!

    On another note, I appreciate the continuing support that you and others give on this website. I haven’t given my history, but I can relate to all I read…I too have the same issues, and will go into that later. One point…for fatigue issues, the doctor found I was dangerously low in Vitamin D and also B12. I thought the fatigue I was experiencing was from MD, but the doctor wanted to check the VitD levels, and I suggested B12. I am on a very large prescription dose of VitD, and it has helped…also sublingual B12 (2500 mcg) every day. If I stop either of these, my readings go down, and my fatigue goes up. Just some food for thought for fatigue issues. It may be worth a check.

    Blessings to all,
    Diane Gaasch

    Reply
  17. Jim Ottesen

    Diane,

    It is heartwarming to me to hear your kind comments. Those of us who
    live every day with McArdle’s need to help each other as it often seems
    few others can understand our issues.

    I have had great results from a physical therapist and a personal trainer to help me deal with my atrophy and to keep me out of a
    wheelchair in the future. I know your results will be good as well,
    but keep your eye on your CK and don’t push too hard.

    Vitamins are critical to the “M” patient! Like you, I take B-12, B-6
    and Vitamin D every day. I can also tell the difference. I also
    take 500mg of L-Carnitine, a good greens formula and 20 – 30 grams
    of protein to help my stamina.

    Best wishes to you with your surgery and keep up the faith. We “M”
    folks control our “M” – we refuse to let it control us!

    God bless you.

    Jim

    Reply
  18. Diane

    Jim,

    I did forget to tell you that I do know about Malignant Hyperthermia from Kathryn (on one of the other sites). I have had several surgeries in the past, but fortunately have never had a problem with this. Being tourniqueted seems to be of concern. I had thought that the no tourniqueting applied to when exercising your muscles, but not for surgery, unless, of course they are exercising the muscle during surgery. Any thoughts on that? I am not a patient of Dr. Slonim’s, but have spoken with him on the phone. Being unfamiliar with knee replacement surgery he was unsure of the tourniquet issue. Always lots to be learned with this disease, isn’t there?

    Thanks again, for your concern not only for me, but the others who visit this site for reassurance and info.

    Blessings,
    Diane Gaasch

    Reply
  19. Jim Ottesen

    Diane,

    Frankly, I do not believe you will have a problem with the MH as long
    as you put everyone on notice that you have McArdle’s Disease and should
    be considered a high risk patient for certain anesthesia products and
    if tourniques are used around muscles. Your surgeon needs to address
    these issues with you at an early date to clear up any ambiguity that
    might exist. If Dr. Slonim does not have a clear answer, we must be
    cautious and bring the issue to the table with your doctor.
    The safest bet is to stick with the same anesthesia used in your previous operations if that is possible.

    I wish you a very successful surgery and a speedy recovery and I look
    forward to getting good news from you as soon as “this” is behind us.
    God be with you. Your friend, Jim

    Reply
  20. Diane

    Dear Jim,

    Thanks again for the advice and support. I will indeed make certain that the physician and anesthesiologist are made aware of my condition well in advance of any surgery, along with the possibility of MH and the tourniquet issue. I will also find out what anesthesia was used on me for the last surgery I had. (I had done that with this past surgery too, bcause the anesthesia which had been used on me prior, made me quite nauseous) The result of this effort lead to a very easy recovery after the last anesthesia. Hopefully it will again.

    At present, I am trying to get myself in shape before scheduling any surgery.(This is always a challenge for MD patients). I hope my efforts pay off, but at present I have had a couple of setbacks. I will try to consult with my PT about that.

    Thank you again for your encouragement and friendship.
    I will keep you informed of any progress…keeping a sense of humor and a positive attitude, along with prayer is most helpful.

    God Bless you too, my friend,
    Diane Gaasch

    Reply
  21. Jim Ottesen

    To all my “M” friends,

    My uncle passed away and I’ll be headed to Biloxi, MS. I should return
    by Friday or Saturday.

    I mention this so Diane and the other folks I talk to will know my
    absence is temporary.

    Have a great week!

    Jim

    Reply
  22. Diane

    Jim,

    I’m sorry to hear about your uncle. It is always difficult to lose those we love. My prayers have been with you.

    God Bless,
    Diane

    Reply
  23. Nicole

    @Site Admin I agree about the protein. It helps to eat a high protein low carb, sugar diet!!! I was diagnosed in 1993 with the disease and have done many things such as hike, ride my bike and play volleyball. I think you have to keep your muscle condition in as tip top shape as your body will allow for the best relief of symptoms! I do notice as I age it’s getting more difficult. I have been hospitalized 4x already in the past 5yrs so you do have to be careful about exhaustion and pulling muscles.

    Reply

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