mcardle's disease symptoms???

[mzak69]

I'm 42, physically fit male and for 2 months I've been experiencing muscle sitffness, cramp like sensations, fasciculations, and tiredness in my leg muscles when I stand or walk.  I've had bloodwork, EMG, NCT, ultrasound on my arteries, etc and everything came back normal.

My neurologist said I could have Mcardles disease and is sending me for a muscle biopsy. The thing is, I've never had discolored urine, which is usually a sign of Mcardles.

Does anyone on here have Mcardles, and could you tell me if you can have it without the all the symptoms?

Thanks for your responses.      

[Christopher R Newey, DO]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.

Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.

There are several causes for cramps and muscle fatiguing and burning associated with muscle twitching. Muscle cramps are not an uncommon manifestation of a systemic viral illness, however, this seems less likely since you don't have other symptoms of a viral infection and this has been going on for a while. Muscle cramps with twitching may be due to myopathy. A myopathy is basically a generic term for a muscle problem. Myopathies can be inflammatory, as is the case with a disorder called polymyositis which is an autoimmune disorder. Also, there are genetic myopathies, of which there are several, each with its own characteristics and features. Finally, and probably most commonly, metabolic causes such as thyroid problems or low potassium can be the cause of muscle cramping. The latter 2 can be diagnosed with simple blood tests. EMG in addition to simple blood tests such as a CK level can assess for the presence of myopathy.

Also certain medications, particularly cholesterol medications called statins, can cause muscle cramping.

Fibromyalagia is another medical condition that leads to whole body pains. Its cause is unknown, but it is characterized by diffuse aches, sometimes GI symptoms similar to irritable bowel, sleep abnormalities, low pain threshold, and other features. It is best treated with medications such as lyrica and neurontin, exercise, and physical therapy.

You can have some disorders and not manifest the “classic symptoms”, such as the dark urine that may be associated with the muscle breakdown of McArdle’s disease. Have you had a hard workout before?

I suggest you continue working with your physician to identify why you have easy fatigue and cramping.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.

[mzak69]

I've had the blood tests such as CK, sed rate, ana, electrolytes, etc and all came back in normal ranges. As I mentioned, my urine is clear or yellow not discolored. If I get the muscle biopsy, what should I expect? What can it tell me?

Thanks again for your repsonse.