Return to Website

Myotonia Congenita Forum

 

This forum has been closed for comments.  You can still search archived messages.

 

Visit  the Non-Dystrophic Myotonias  Facebook Group

Myotonia Congenita Forum
Start a New Topic 
Author
Comment
View Entire Thread
Re: my daughter

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

Re: my daughter

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