My wife has been suffering from muscle pain for some time and has been tested, bloods, muscle biopsy etc. She is 41. She now has to walk with a stick due to balance problems. She doesn't show signs of muscle wasteage or drooping eyes. She does have large calves though. A dystrophin genetic test has shown no deletions or duplications. Muscle staining was +ve for dystrophin types 1,2, and 3 and Myophosphorylase staining was +ve. I have yet to ascertain whether this is good or bad, perhaps someone could advise? We are awaiting test results for myotonic dystrophy type 2.
About 3 years ago she was diagnosed with CFS (ME) but recovered. A year went by before she started to get these pains. These may be unrelated.
Knowledge of this sort of thing appears rare and held only by very senior specialists. I would be interested to learn of any avenues I should be seeking to investigate. We have been told that in 99 out of 100 of these cases you never get to the root of the problem.
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