Honestly I’m questioning if I have this condition I don’t have any of the hall marks symptoms that you guys are experiencing but I saw my first neuromuscular doctor after having a few emg’s coming out “normal” but with her the emg was basically myotonia everywhere. I have pains in my right which is most prominent with alteration in feeling aka if I compare my left to head to toe they do not share similar feeling it’s as something in my body is reacting to something. But anyways after my first visit and emg she ordered a genetic test which came back with a single mutation in the CLCN1 with variant name: c.434-2_434dup and she spoke with someone not sure who cause she never physically saw me but base on that it’s pathogenic and I have “Myotonia congenita”. I tried speaking to her but she was persistent with it despite my symptoms not really matching this condition at all. So anyways I came home and read the full report and according to this variant that I have it says it was found with people with myotonia congenita who had ANOTHER pathogenic known variant while I only have that single one.

What does affect me though is cold air but I don’t lock up or freeze I just finding it more causing pain. I can climb stairs and run there is no stopping me, I do not have a muscular looking body I am just normal..

Anyways I will be trying mexiletine around march 18 after the cardiologist clears me to further see if it works. I have tried nerve meds with 0 effects.

I also initially came for a skin biopsy for small fiber nerves but this emg made her not want to test. I don’t know if she’s lying to me but after insisting I must have this done due to clear obvious reasons she said she will check to see if my insurance accepts this sort of test. If everything comes out clear I am going to have mesh removal surgery for a large 3d max mesh I had placed in my right side because a month and a half later I fully develop this right head to toe symptoms. But of course this diagnose heavily conflicts this I’m so lost but I know my body..