I recently went to My neurologist after a 2-year absence and now have knowledge of what My MC mutaion is,CNCL1,I am a 48 year old Male, Mexiletine @ 150 ml along with 2 ml's predisone work's great! as long as I stay away from caffine product's and ptassium product's such products naturely containing potassium greatly weaken and stiffin My muscles.no other famialy member Has any signs of MC,My MC is autosomol recesive,is their any other's out there with My MC Mutation ? CNCL1

Type of Myotonia: MC

Country: USA

LeRoy--I just wanted to let you know that your myotonia congenita is probably Becker's, because you are recessive. I have Thomsen's myotonia congenita, because I have the dominant form of the disease. Did your doctor mention anything about this? While the doctors don't usually use Thomsen+Becker's anymore, it's easier for all of us to keep track of what kind of MC we have. Someone who knows a lot more than I do will post, but I thought it might be easier for you to know the terms we commonly use to sort out the choices.

Type of Myotonia: TBD--got the diagnosis January 23,2011(Thomsen's)

Country: USA

Myotonia Congenita is caused by a mutation in the CLCN1 gene, in that you are not alone.

Patient's with Becker's variant are known to suffer worse symptoms, including attacks of muscle weakness in the limbs.

I also use Mexitil, it works to a degree in that I am stabilised but the myotonic symptoms are still present.

We all have the problem with potassium and caeffeine too!

Type of Myotonia: Becker's

Country: England

Leroy,

CLCN1 is the name of the gene you have a mutation, or mutations on. If you have the lab report, it should tell you the exact mutation or mutations you have on that gene.

There are some good videos on youtube about how genes work if you are the curious type.

Here's an old video but a good one.
http://www.youtube.com/watch?v=l0TC9Lt7IGU&NR=1

If you think of a strand of DNA like a spiral stair case, then a gene would be a flight of stairs in that star case.

Type of Myotonia: Becker

Country: USA