I have been around these boards on and off since 2008. I was diagnosed with a Muscular Dystrophy of unknown etiology - until last year.

A research study found that I have a defective Agrin (sp??) gene causing a Congenital Myasthenic Syndrome. My doctors said it fits almost all of my symptoms. They also said that this genetic defect is very rare.

So here I am, now most likely diagnosed (finally) with CMS. I'm looking forward to meeting others with this illness and learning more.