I had a conversation with my mother today about the perils of stretching...a few months ago she over extended her shoulder and tore her rotator cuff, and so I was sharing a few of the stretching accidents which have befallen me...I had just told her about the wonderful time when I stretched and on the way down, one rib got stuck over the other. Suddenly she said "I used to have a problem with my stomach too."

At which point this is how the conversation proceeded.

Me: What do you mean?
Mom: When I coughed sometimes my stomach would get stuck, but it only happened when I was younger.
Me: Stuck how?
Mom: I'd get stuck in that position for a few seconds. But just when I was
younger.
Me: *blink* Mom...that's myotonia.

For some reason, during not one of the umpteen doctor's appointments she accompanied me to. During all the family history questions. During all the tests and me blah blahing about my muscles locking up and MC, my dear mother never put 2 and 2 together.


So I guess I can't say I'm the only one in the family with MC anymore.

Type of Myotonia: Becker

Country: USA

How funny! The same thing happened with my mom. She always called it my disease and denied having any symptoms. But when she got the EMG and it showed up she finally admitted she must have myotonia. Several of the women in my family only had stiffness when they were younger or pregnant.

Was one of your mutations associated with dominant MC?

Jan

Type of Myotonia: Thomsen's

Country: USA

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