Annie....I hope you don't mind my "hijacking" your post. I saw a post you made earlier this year, and wanted to get in touch with you. We are in the process of diagnosing my son (15). It has been long and very very slow. In a prior post this year, someone was discussing limb-girdle, and you mentioned CMS and testing for it.

My son has had a positive EMG during RNS. Acetylcholine was negative. We're waiting for MuSK results, and they are also checking Carnitine and Acetylcarnitine. In the meantime, Neuro (who does not communicate much or well) referred us to UC Davis. The other option we're looking at is trying to get him to into Mayo. Both of these were the options you mentioned in your earlier post in reference to CMS. You seem to be very knowledgeable/experienced and I am grasping at straws trying to help my son. Any advice?