For both the last posts in Oct/Nov 07 , its hard to think of where to begin. Yes it does matter what form of myopathy you have, there are no cures (with some niche exceptions if you have CoQ10 deficiency for example) but there are steps that can be taken to optimize how you feel and do (diet, exercise, supplements all carefully regimented-these have helped me). These conditions are very difficult to diagnose, and ideally you need to see an expert, someone active in clinical work and research. Knowing exactly what is wrong will help identify exact supplemements, diet, etc changes to make, they won't cure you but could help.

I would suggest seeing Haller in Texas or Pestronk in St. Louis. Cleveland Clinic (especially for CPT, joint institute with Case western University), Mayo, Mass general are also good choices. url’s below. I was able to get my insurance to pay in network for this (texas referral), based on their unique expertise.

I have had 3 biopsies over the years, one at mass general as a teenager 25 years ago when problems first appeared, one about 9 years ago with a local doctor, and this past summer with Haller in Texas. Although I had a previous diagnosis of a nonspecific metabolic myopathy (suspected mitochondrial or glycogen storage disorder), the exercise testing Haller put me through did not show evidence of this, so I am back to the drawing board. I would still highly recommend seeing him. All three biopsies have shown abnormalities, but generally mild and nonspecific.

My problems are muscle cramping on moderate exercise, and the past few years, muscle pain and fatigue, fluctuating depending on activity level and pretty bad at times. One thing that has helped me is that I have developed some thyroid and pituitary problems, possibly in parallel with the myopathy issues that were significantly affecting my well being. Now that those are under control, I am doing better. I would therefore also recommend seeing an endocrinologist for a full check, often times chronic disease can suppress pituitary function, etc and lead to other problems.

In addition to the texas and St Louis doctors, below links are for glycogen storage and mitochondrial issues, and Cleveland clinic.

Mike

http://www.neuro.wustl.edu/neuromusc....html#research

http://ieemphd.com/NMC%20Homepage/default.htm

http://www.agsdus.org/

http://www.umdf.org/Index.aspx

http://cms.clevelandclinic.org/neuro...rint=yes&id=56

My sister had a hip replacement a few years ago and developed what appeared to be a fat embolus. It wasn't. Her symptoms were fatigue and respiratory difficulties. After a couple years of various testing and muscle biopsy, she was diagnosed with acetyl l-carnitine palimitotransferase deficiency (effecting complex 3, and long chain fatty acid metabolism). I have neurological problems suspected as being MS, but my MRI has been stable.

I get muscle fatigue with exercise.

I don't know whether this recessive mitochondrial definciency might be part of my peripheral problems as I have not been tested for this.

I just had a muscle biopsy and it said I may have a cox-deficient type of mitochondrial disease as well as atrophic myofibers. But some fibers stained more strongly. I have bilateral frozen shoulders (which just are not getting better) and proximal weakness. If I exercise - like going to a store or something, I basically fall asleep later, exhausted. I am waiting to hear from my neuro.