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Experiencing myotonia, myokymia, muscle pain, cramps, stiffness, weakness. Looking for proper treatment

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Practicing since : 2009
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Hello, I have an undiagnosed neurological condition. I have seen doctors at the Cleveland Clinic my whole life, but have never been able to get a definitive diagnosis. More than any other disease, I show symptoms of Myotonic Dystrophy and CMT. However, both tests for those diseases have come back negative. My symptoms include myotonia, myokymia, muscle pain, cramps, stiffness, weakness. My symptoms get worse when it is cold and when I am nervous. Like CMT, I have a high arch and clawed toes, especially in my right foot, as well as Scoliosis.
I am about to graduate college soon, and am planning to move to a different part of the country and see specialists in that area. Do you have any recommendations as to what hospital/doctor to see?
Do you have any suggestions on how I can research online on my own? I don't really care how US News, for example, ranks hospitals because I am just looking for a diagnosis, and not some kind of major medical service. And I haven't had too much luck with typing my symptoms and "best hospital" either.
Any help would be greatly appreciated. Thank you so much!
Posted Mon, 5 Nov 2012 in Brain and Spine
Answered by Dr. Arnab Maji 6 hours later

Thanks for your query.

See the symptoms you are suffering from may have many differential diagnosis like myotonic dystrophy (DM), myopathies and CMT.

Myopathies usually invove proximal muscles whereas DM1 involves proximal muscles and DM2 involves distal muscles. Do you have the problems in the following activities -
1. upstairing
2. getting up from sitting posture
3. cycling
If yes then you have proximal weakness and cause will be generalised myopathies and DM2 which is adult onset.

Again if you have problems in writing and coombing your hair then probably you are suffering from distal muscle weakness caused by DM1.

Myopathies can be caused by diabetes, thyroid disorders, prolonged steroid intake, as a side effect of various drugs. So your doctor need to exclude them one by one before coming to any conclusion.

Your symptoms are exacerbated on exposure to cold which typically occurs in thyroid problems which need to be excluded.

Only presence of high arched foot and clawed toes do not indicate that you are having CMT. If these are associated with sensory loss on that parts and if it is of early onset then one should clinically suspect CMT.

You didn't mention which tests are done to exclude DM and CMT. Molecular testing is gold standard for diagnosing these cases. So if there is clinically strong suspicion go for these tests to conclusively prove it. But before that you should consult neurologist and discuss the issues once more which I have mentioned here.

If you have further queries you can write back to me without any hesitation.

Dr Arnab Maji

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