Thanks for your thoughts of encouragement to all of us.

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

Best regards,

Jim

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

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

Hope to hear from you soon.

Best wishes,

Jim

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

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

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

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

Thanks.

Best wishes,

Your “M” friend,

Jim

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

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

Let me know how things are going.

Jim

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.

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

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

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

Blessings,
Diane

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

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