There are literally over a hundred different CMS genetic mutations. Only TWO places in the United States run the specialized blood tests or do the specialized muscle biopsy (which can be dangerous to do): University of California at Davis and Mayo Clinic at Rochester, MN.

Please don't let them carve into you again until they run the blood tests. It's absolutely not necessary these days, especially if you have CMS. Depending upon your ancestry, they can narrow down what tests to run. Some run in certain ancestral lines.

You absolutely need a specialist on this one. Some CMS are autosomal recessive and some are dominant. Some patients have absolutely no acetylcholine, others have too little and others too much. If you don't define exactly which one it is, you can get worse with a treatment such as Quinidine Sulfate or Fluoxetine. Ephedrine is often not used due to the potentially adverse side effects. Oddly enough, tonic water can be useful. Do not try anything until your doctors have definitively figured out what is going on.

http://neuromuscular.wustl.edu/synmg.html

http://www.ucdmc.ucdavis.edu/neurolo...y/maselli.html

Age does NOT define whether you have CMS or MG. Some CMS have later onset or adult-onset. I had MG since birth, even though it's more common to have a CMS since birth.

What you are describing as far as where your weakness is doesn't exactly fit "limb girdle." Again, I think you need a specialist at this point.

The best way to diagnose MG or CMS or LEMS is by THINKING. And a good clinical exam followed up by testing. Doing more than one muscle biopsy is crazy unless absolutely necessary. If I were you, I'd ask if they are going to send your blood off to UC-Davis. If it turns out that you have CMS, ask to be referred there for a definitive diagnosis.

I'm sorry if I'm being harsh but figuring out if this is MG or what particular CMS is very important. Your treatment, and life, will depend upon them knowing exactly what is going on. I hope you do find answers.

Annie