Jan:

Both of my mutations are categorized as recessive and usually are, but a few studies found that both of them have been observed to affect multiple generations of certain families on their own. This has actually been observed to happen in a number of "recessive" CLCN1 mutations. There are a few reasons I know of that this might be. They could be dominant with low penetrance, there could be a copy number variation in which the mutated segment of the gene repeats elsewhere on it, or...I also have a "mutation of unknown significance" which is a transition with no amino acid change. I've come across two other people with this same mystery mutation and both of them only have one recessive disease causing mutation, and they happen to be the mutations I have. So this "mutation of unknown significance" might, have something to do with it.

Type of Myotonia: Becker

Country: USA

HA! I only found out a few years ago that normal people don't hurt as much as I do when they get a cold.

Hmmmmm... :)

Also, I thought, "I don't have any of that freezing up stuff with coughing and sneezing." Except it HURTS when certain muscles stay tense a moment too long with pregnancy, and, well, I do have it, it just lasts only about 2 seconds, so I never really thought of it as such. I have to wait to walk after sneezing for about 2 seconds, or I'd fall over. Didn't really occur to me that the is not normal!

Type of Myotonia: Thomsen's

Country: USA