there is a fairly recently diagnosed entity of CMS called DOK7.

a lot of what you are describing in yourself and your family could possibly fit that.

try looking it up.

I am not sure that this is going to be the correct answer, as there are so many different proteins in the NMJ and down stream of it, that they don't know much about, and could theoritically be involved, but its worth a try.


the fact that your SFMEG is normal also suggests an abnormality of a protein that is down-stream of the receptor.

also, your response to steroids could be due to a direct effect on the muscle itself, and that is possibly why you respond to relatively low doses.

alice