Hello

I am 22 years old and was diagnosed with MC in my early teens. I am not too sure what type I have as I was pretty upset and embarrassed with the restrictions MC placed on me as a teen until I was put on mexiletine. I take a 400mg dose daily. This dosage rids me of my symptoms almost 100%. I do not know what I would do without this medication. MC has no history in my family and neither my mom or dad display symptoms of MC. It is like it came out of nowhere. I have two other siblings who both have been diagnosed with MC. All three of us share the same symptoms: leg stiffness and sometimes in the hands. My brothers seem to have much worse symptoms than me especially my older brother.I am just wondering if anyone knows from what I have said which type of MC I have. From what I have read it seems that the chances of the disease being passed on to my children depends on what type you have? I am not too sure though. There are alot of bio terms being thrown around that I am not sure about. Any input would be much appreciated or if there is a website that anyone could recommend that would also be helpful.

Thanks

Type of Myotonia: Not too sure

Country: Canada

Anni, you can go to a neurologist and ask for DNA testing to determine your exact type. I believe they send it off to Athena Diagnostics. Here is their contact information for the US and Canada:

Mailing Address

Athena Diagnostics, Inc.
Four Biotech Park
377 Plantation Street
Worcester, MA 01605

Phone: 1 (800) 394-4493

or 1 (508) 756-2886 (For callers outside the US and Canada)

Fax: (508) 753-5601


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From what you're describing it sounds like you have the autosomal recessive form of myotonia congenita, or Becker's MC. Each of your parents would have a recessive gene - the combination of the two is what causes the symptoms. This site has a pretty good explanation...scroll down to the second diagram:

Socialstyrelsen, Sweden

If that turns out to be your type, then your children would have very little chance of having symptoms even if they inherited a recessive mutation from you. It takes two recessive mutations, one from each parent, to cause symptoms. If you decide to have children, the father can also be tested to be sure he has no mutations that they could inherit.

While it is possible that you have Thomsen's myotonia congenita or a sodium channel myotonia it is not very likely because those are usually dominant inheritance which means it only takes one mutation from one parent to cause symptoms. There would almost certainly be family members (other than siblings) with symptoms if that were the case.

I don't know of any other websites to refer you to. There is really very little information about myotonia on the Internet or in medical books.

Jan

Type of Myotonia: Thomsen's

Country: USA

Thanks alot for your help!

This is my first time on the site!! It is amazing to read how other people are going through the same thing as me!I have never met anyone else with this disease other than my two brothers so this is awesome. I feel alot more comfortable knowing that I am not completely alone!I have been on it for hours just reading peoples stories. I had no idea that diet had a huge factor to play in how my muscles react. My mexiletine helps alot but I am definitely going to change my diet up a bit and see if that helps.

Thanks for making me feel welcome!

Type of Myotonia: Not too sure

Country: Canada

I'm glad the stories were helpful. I didn't meet anyone outside of my family with MC for about 15 years after I was diagnosed and none of my doctors had a clue what it was like. If you haven't gone to the main website yet, there is some information there, too (click on the link "Return to Website" above).

Changing my diet made a huge difference for me and I do get emails from many people who tell me it helped them, also. But others say it didn't seem to make any difference. I suspect it has to do with the particular mutations and how much potassium and insulin affects the function. It's worth a try :-)

I'm glad you're able to get mexiletine in Canada. I wish we could get it to everyone who needs it in Europe and other areas where it was discontinued.

Jan

Type of Myotonia: Thomsen's

Country: USA