Thank you Jim for replying.@Jim Ottesen

Hi I was diagnosed with McArdle’s 33 years ago but was not told anything about it. Last year when I was refered to a neurologist it felt like I was just diagnosed. I feel very confused and trying to understand what it is all about. This website has been very informative.Can anyone give me any advice on how to accept/deal with the limitations while still trying to work. I was in a motor vehicle accident receiving whiplash and soft tissue injuries to the neck, shoulders, back. Recently I have experienced a very painful total back spasm that I couldn’t move. Can anyone tell me how do you tell if it is McArdle’s spreading or its just a muscle injury? With Mac do the muscles ever repair? I am at the stage of being in pain 24/7 and can no longer push through the pain. I have been seeing a Muscular Skeletal specialist and he has been given me cortisone injections in the back of the head, shoulders,back & hips. Has anyone had any feedback on this treatment or should we even have it? I would like to be a good advocate for myself in asking the right questions at the Drs visits. If anyone could help with what questions to ask please respond. Please help in any way possible as I am trying to understand and accept something that I cannot change or like.

Great idea…
@Site Admin

@Jim Ottesen
Great taht someone is getting the “Walk Over Wales” activity together. I have found so many people who do not know what McArdle’s disease is and how it effects everyone differently. My twin and are have been diagnosed per muscle bx.. Just the two of us have varied symptoms. We have physically demanding jobs. I am a surgical nurse and spoke to quite a few physicians about this disease so they can quit making comments about “it’s stress related” or it’s all in their minds………….. I am outspoken and feel everyone should get out there and educate others what we are living with. I am glad this website is here!!!

Jim and Allie..

Allie, please let us know what is going on with you and what the doctors find. You may have more than one issue going on, who knows? It is most frustrating, I know, and I know Jim does too.

Jim, thanks for the suggestion on the hemastix. My most recent
CPK test was just at 500..that was last month. I was most pleased, but then I have not been exerising due to several issues with my back, knees, etc. Hopefully, I can get these straightend out and begin an exercise program again…I know the hemastix will be really helpful then!!!

God Bless you both, and I look forward to hearing of your results, Allie.

Diane

i have been reading for a year gives me hope

@Jim Ottesen
Allie,

Just staying in touch. Please let us know if you hear anything as
to testing or confirmatin of McArdle’s Disease. I pray for the day
when we have the cure for “M” and I just want you to be in line if we
find that you have the disease. If not, we’ll just thank the Lord.

Have a great month!
Jim

I am 24 and was diagnosed with mcardles at age 17. Can someone please help me understand the symptom difference between muscle swelling from mcardles and compartment syndrome? I’ve been in a lot of pain, more than the avg mcardles “episode”. Taking ibuprofen (not helping as usual) and icing off and on for 24 hrs which has helped to numb the pain temporarily. Throughout last night I was basically inside out due to the pain, I’ve had kidney stones before and categorize these two severities as one in the same. This morning it did get a little better, swelling went down a little, but I still can’t put any pressure on it and its still throbbing. I’d appreciate any advice, thank you SO much.

Allie,

Jim seems to have”covered the bases” pretty well, so there really isn’t much I can add. I have noticed that when I have an episode (where my muscles contract and are very painful, lasting for many days or weeks, with discolored urine), I find that my stomach is very queezy and I have to be very careful of what I eat. My brother also has McArdles, and before he was diagnosed and had a very bad episode, they thought he also had an ulcer. He was eating baby food for many months. I believe there are a lot of toxins that are thrown off into our systems during these times and our digestive tract and stomach need a little TLC to overcome the toxins. I don’t know if this helps, but it is something my brother and I have both experienced.

Good luck,
Diane

Jim,
Thank you so much for writing back to me with your thoughts. As far as the questions you asked me, I don’t notice a lot of pain if someone just pushes me but if something pokes my muscles it hurts. my 2 year old hurts me all the time when she is sitting on me by poking her little elbow into me. The tingling and numbness is something I have had off and on for so long I don’t know if it is associated with this problem, it doesn’t happen often though. And gait and falling, I am WAY more clumsy than I used to be. I have fallen down the stairs more times than I want to admit in the last few years, but again, maybe I’m just clumsy.
I wanted to ask you a few more questions too. My doc is referring me to a rhuematologist in Dartmouth that also deals with other muscle diseases because they have ruled out inflammatory reasons but he doesn’t know who else anywhere near here deals with other muscle diseases. You said a neurologist or geneticist, do you think I would be more likely to get a diagnosis from them. The specialist I am going to see wants to try to diagnose me with a muscle biopsy but will that show anything if I am not feeling bad at the time?
I was also wondering for any females, do your symptoms get better/worse with different times in your menstrual cycle? I am just trying really hard to find a connection to some trigger that makes be better/worse some weeks than others.
My last question is, does anyone have digestive symptoms associated with their condition? I have the most irritable stomach possible and have had to completely eliminate fruit and I eat gluten free. Candy and carbs make me feels bad all over, could this be related or just a separate problem? Thank you so much for listening to me and trying to answer my questions, I feel like I am all over the place but I just want as much info as I can get before I see a specialist so I can be my own advocate. I don’t want to be misdiagnosed again=) Thank you , Allie

well I tried to post on here yesterday and it was here but when I checked, but today it was gone? But I will try again, only a much shorter version. I am hoping to get advice or input on my situation. I am a 26 yr old woman and I have been having issues for years of just feeling bad but not really being able to pinpoint what it is. I have digestion problems as well as fatigue problems and I don’t know if they are related or not but different docs have given me so many different diagnosis over the years and very few of them seem to fit. Since having my son 1 1/2 yrs ago I have been much worse where I have periods of sever fatigue that can last weeks, where my muscles just feel so week just trying to do the very simplest of tasks is very hard and I have to take a break. Stress aggrevates my symptoms and also I get short of breath sometimes too. My newest doc decided to test my cpk and it was 1,232 with elevated liver function, 4 days later it was 4,700 and higher liver funtion. He was concerned and sent me to a reuhmatologist but the frustrating part is I always suddenly start feeling better and almost normal for a week or two and by the time I went to see her and they did my blood it was back down to 670 in just a few days. She has no idea and wants me to see a specialist because she thinks muscle disease. I have looked into many and I have yet to see someone describe weeks of weakness and fatigue followed by short “remissions”. I also don’t have much cramping… just one calf that will cramp up for days or even weeks, and my neck cramps a little. Does this sound familiare to anyone? Mcardles or something else you have read about?? I would be so very appreciative of any help, thank you!

Hi everyone,
I hope someone might have a chance to read this and give me some feedback, it would be so very much appreciated. I am a 26 yr old woman, and I have just recently been told I probably have a muscle disease. I have been to the doc many times over the years since my mid teens because something was just wrong but I didn’t know what. I have been diagnosed with so many things by now from different docs. hypoglycemia(which I do have), depression(don’t have it), eating disorder(definitely not), celiac(? maybe), chronic Epstein-bar( does it even really exist?), Allergies(yes), Chronic fatigue(again skeptical). More recently though since the birth of my 1 1/2 yr old I have been so much worse, I get periods of time where I am so exhausted and my muscles feel so weak that I have trouble tying my kids shoes and putting their coats on without taking a break to catch my breath. These periods can last two weeks or more where every task is just so hard all I can do are the necessities, and I get so irritable because everything is so overwhelming. But then I start to feel better and I will have a week maybe a little more where I feel better, almost normal, and then it starts again. I have been going to a new doc and he decided to FINALLY check my cpk levels. The first check they were at 1,232 with elevated liver function, 4 days later they were 4,700 with higher liver function(I was feeling my worst the day before these numbers). He ordered my numbers again and got me in with a rheumatologist but by then I was feeling better and my numbers went down to 673 in just days. She told me she had never seen anything like this and I don’t have anything in her field but I must have some sort of muscle disease and they want me to see a specialist . Now I was wondering if any of you experience the same sort of thing where you have periods of time where you are really bad and then ones where you feel much better, also I don’t get muscle cramps as much as just weakness all over. The only cramp I get is in my neck sometimes and my calf where it will cramp for days or even weeks. I have always been healthy and fit and if I had any trouble I would just push through it. It seems like people with the muscle diseases like this one can’t push through it so I am confused how I could have gone this long without major complications. Please if anyone has any insight on what this sounds like or anything please let me know… I don’t know how long I will be waiting to see a specialist and I am very frustrated! thank you so very much!

My sister and I both have McArdles, my sister has been totalaly disabled since she was 40 years old. In the last few years she has leaned better ways of coping and has not gotten into trouble. As for me I refused to get a biopsy because of insurance. But in august i made a big mistate I had a clogged sink and didn’t want to wait for help I PLUNGED!!! it myself 5 days in the hospital later i had my biopsy and joined my sister on the short list of people with McArdles. now my question to you is this. My biggest muscle cramps are in my back standing, bending,walking on the slightest incline will put down for days. My sister doesn’t have the back issue hers is mainly legs.the doctors have no anwsers.I’VE Had to give up my job of 27 years because it requires standing throughout the entire day. does anyone have this problem oh! I’m 61 years old and this has just started getting worse since my hospital stay in august I’m older than my sister could it be that the longer you have it the weaker you get. I have blood in urine everytime it’s checked. I have been turned down for ssd for my back the mri shows nothing to cause this much pain. I’m going in april to birmmi

@Emile Thebaud
Emile,

I too have McArdles and I am 62 years old and have had two orthoscopic surgeries on one knee. The latest one was two years ago. I still have pain, but not as great as before. I am trying my best to put off knee replacement since no one seems to know how a McArdles person might recover from this surgery. What type of surgery did you have? Did you do Physical Therapy? I found that I had to be very careful with the PT so as to not strain my muscles. The Physical Therapist was most mindful of this fact and watched me closely, letting me be the guide of what I could tolerate. Hope this helps and good luck. If I can answer any more questions, don’t hesistate.

God Bless,
Diane

So sorry it is ehurless@agapemail.net I wrote it wrong on the post above.

Thank you so much for your advice Jim for Carrie. She is going to try this and discuss her accupril at the doctors. She is slightly complicated as she has lupus and anti phospholipid syndrome as well. She only discovered she had mcardles recently with forearm test prior to that she went into acute renal failure following the birth of her son and it was then they discovered she had lupus. I think it was probably the mcardles back then also. Your advice is much appreciated

@June
Anyone have any feedback about McArdles and pregnancy? I had a complicated pregnancy about a year ago, and was wondering if anyone had complications with pregnancy. I am wanting to get pregnant again, but not sure if I will go through the same things. I was reading another message that mentioned about glucose testing. Is there any relationship with McArdles and Diabetes or McArdles and hypoglycemia? Do people with McArdles feel tired all the time?

I was diagnosed with McArdles but after a biopsy it was determined that I have IBM or Inclusion Body Myositis. I have two daughters that have all of the symptoms of McArdles from a very early age. One daughter last week had a muscle biopsy and she also has IBM. I have a niece that was diagnosed with McArdles. Some of these people that have vacuoles in the muscle cells may also have IBM. Is it possible to have both diseases, McArdles and Inclusion Body Myositis? The doctor is now going to do the forearm test on my daughter. Betty@Site Admin

Hi Folks,

As to another authority, I suggest Dr. Ronald G. Haller in Dallas,
Texas, as one of the world’s best neurologists for McArdle’s Disease.
Getting an appointment is not easy as he is also one of the primary
leaders in the field of McArdle’s research. Having said all of the
foregoing, call 214-345-4611 or fax 214-345-7105 and ask what you need to do to schedule an appointment. If you get Marta, his nurse, please
give her my best regards and tell her I referred you.

To: Marlese: The meds to protect Carrie’s kidneys could very well cause
her vomiting. I suggest you push the doctor for an alternate answer.
It is unusual for “M” patients to experience unusual vomiting. Is her
normal CPK 20,000? Or, after muscle stress? Try to get a script from
her doctor for Hemastix to measure for myoglobin whenever she has muscle
pain, feels feverish, has dark urine or feels weak for no apparent reason. The stix are a home test which will alert you to the seriousness of the problem. If the reading is high, call the doctor. If low or nil, start 6 to 8 glasses of water every day to keep the kidneys flushed clean. Walking a short distance every day is OK to help
the entire system, but check all of these suggestions with your doctor.

Please let me know how Carrie responds.

Best wishes,

Jim

Hi my daughter Carrie has confirmed mcardles. Her main disability is severe bouts of vomitting and head neck and jaw pain at present this is requiring weekly iv treatment at our local gps .Her ck is around 20,000 (n.z values) presently. She takes ACCUPRIL RX TO PROTECT HER KIDNEYS AND WE WONDER IF THAT COULD BE CONTRIBUTING TO HER SYMPTOMS SHE IS 26 YEARS OLD.THANKS IF ANY ONE HAS ANY ANSWERS.

More thoughts….
Someone asked if anyone was “double jointed”. Yes, I am in my knees. They hyperextend. In order to stand, I “lock” my knees.
Also, I’ve been told that I am pre-diabetic, so I should not be eating a high carb diet or drinking sugary drinks. So now what?
Does this sound like McArdle’s Disease?

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

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

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

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

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

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.

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

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

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

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

@Jim Ottesen
Lynn,

We haven’t heard back from you and I just wanted to see if you’ve
gotten any news on the biopsy and what you felt about my suggestions.

Thanks.

Jim

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?

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?

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.

@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

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

@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

@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

@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

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

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

Hi Brenda…I was diagnosed in 07 with McArdles. I too live in ON. Forums like these are great to connecting with others and better learning how to manage this disease.

Cheers,

@Brenda Krushnisky

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

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

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

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 hope. Very best wishes, Jim and the “M”er’s

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

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

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,
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

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

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 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)

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

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

@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

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

@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

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

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

@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 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

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.

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

@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

@Sue
Sue,

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

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.

@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.

@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

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

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..!

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.

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

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?

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

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.

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

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

@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!

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

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

@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

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!

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

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

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.

@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

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,
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 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

@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

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.

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.

@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

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

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.

@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 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

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

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?

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

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,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

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. 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.

@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.

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.

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
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.

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!

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.

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.

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.

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

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?

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 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?

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

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.

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.