Hi, tmezzy. Welcome!

This is the best site for looking at CMSs. Dok-7 is further down the list.

Myasthenic Syndromes

I still don't know if I have both MG and CMS. I've had MG since birth. I'll never know, since a certain clinic won't do the testing.

The CMSs are all different animals, even if they share some similar characteristics. There are those where there isn't enough acetylcholine and some where there is too much. Some of them are pretty bad, where someone has no acetylcholine and treatments don't really help.

How are you feeling in general? That's the important thing. You could always consult with Mayo in Rochester, MN, in case they might be able to help. One of their doctors is the one who discovered CMSs way back when. If only a few of their doctors could discover kindness.

Dr. Harper is a pretty decent MG expert and has written about the CMSs. I believe his email is listed on Mayo's website.

MG is weird enough. It must feel strange to have such a rare disease. Does anyone else in your family have similar symptoms? Sometimes a family member can have a more mild form and not even recognize that anything is wrong! That's more common with recessive CMSs.

I've wondered if some of these are amino acid protein synthesizing mutations. Tyrosine is indicated in Dok-7.

I hope you're doing well on the Albuterol. If it causes any shakiness, you can always have a bit of juice with it to counteract that.

I'm sorry it took so long for you to be diagnosed. I wish more doctors would consider these odd diseases when patients present with subtle symptoms!

Annie