Hi, I was wondering if anyone could tell me what type of mc I have... I was diagnosed 2 and a bit years ago when I was 6 months pregnant with my daughter as my symptons of mc got worse as my pregnancy progressed. My parents always had me at doctors when I was younger as I was always falling and had quite big muscle bulk but never got any answers until now. I am now 22 and have my first genetic counselling next week. I am nearly sure my 2 year old daughter as it, she has quite big muscles already and the same body shape I was as a baby although she is quite active but very clumsy. My neurologist does not seem to concerned about the disease and basically said medication for it has no many side affects that you are better without it :0 I am wanting to start back to work although my mc has not went back to how mild it was before my pregnancy so would really something to ease it a little. Thank you Ciara.

Type of Myotonia: unkown :(

Country: uk

Clara,

The only way to know which type for sure is to get DNA testing. If your geneticist won't order the test, you can get it done for free through the Periodic Paralysis Association at PeriodicParalysis.org. On the left there is a tab for Genetic Testing which has all the forms. It will go to a lab in Germany and you should get the results in several months (the testing is free).

Since both you and your daughter have symptoms, it sounds like a dominantly inherited form which could be Thomsen's Myotonia Congenita which is a chloride ion channel disorer, or Hyperkalemic Periodic Paralysis or Paramyotonia Congenita which would be sodium ion channel mutations.

It's very common for the symptoms to worsen during pregnancy. The most commonly prescribed medication now is mexiletine. Other options are flecainide and acetazolamide. I don't recommend phenytoin or carbamazepine, especially for younger people. They do all have potential side effects. Many of us don't use any medication and manage the stiffness with a combination of diet, exercise and avoidance of triggers. I do very well taking licorice root extract and avoiding simple carbohydrates like sugar.

Jan

Type of Myotonia: Thomsen's

Country: US

I did get my dna testing and was told I had mc but not which kind and I didn't no enough about the disease at the time to ask which one it was. Will they be able to tell me at the genetic counselling which I have and what are the chances if one child has the disease of another child having it??. We cant get mexiltine in the uk, is it safe to buy online? Thanks Ciara.

Type of Myotonia: unkown :(

Country: uk