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Re: The Females in my Family use Chloroquine to help with Symptoms

Frank,

Quinine is one of the oldest treatments for MC but it's hardly ever prescribed these days. It used to be very inexpensive in the US, then the FDA required it to be re-certified and only one company felt it was worth going through the cost and headache. Now the cost is outrageously high if you get quinine sulfate. I haven't priced Chloroquine. You're on what would be considered a lower dose, but if you take more than about 750 mg per day then you risk damage to the auditory nerve over time (and other potential side effects).

The drug of choice now is Mexitil in the US. Other options are Diamox (acetazolamide) and Dilantin (phenytoin). Some doctors prescribe Tegretol (carbamazepine) but I never recommend it because of the potential for psychosis. Sometimes it takes a little experimenting to find the right one for your set of symptoms.

MC is distributed equally among males and females, so if you have the dominant form, Thomsen's, then the extra x chromosome really wouldn't have an impact. You still had a 50% chance of inheriting it from your mother.

If you have a university medical center nearby you can go to an MDA clinic for free and many of them will cover DNA testing. They are also much more familiar with diagnosis and treatment of myotonia congenita. It's nice to know the type and the exact mutation just because doctors take it more seriously. This isn't a big issue until you need surgery. It really helps to have that proof so that the anesthesiologist will take the necessary precautions.

Let me know if you'd like more information on testing.

Jan



Type of Myotonia: Thomsen's

Country: USA

Re: The Females in my Family use Chloroquine to help with Symptoms

Frank:

If your family does indeed have myotonia congenita, then it sounds like you have the dominant form, Thomsen MC. For some reason, it seems to affect the upper body more than the recessive form, Becker MC.

As Jan mention it has nothing to do with the X chromosome (or Y chromosome). That you are the first male to be affected would be merely a matter of chance. For autosomal dominant disorders, such as MC, the chance that the offspring of an affected individual will also be affected is 50%. Additionally for what might be various reasons, Thomsen MC has what's called "partial penetrance" meaning not all individuals with the mutated gene will be noticeably affected. Some may have no outward signs of myotonia, or might only have it under certain conditions, which might never occur.

Myotonia Congenita can be sensitive to the affects of certain sex related hormones though. Men are usually more severely affected than women, and the symptoms of the disorder often worsen in pregnancy, so maybe there is something about the mutation in your family that makes the symptoms more severe in women...that is just speculation though.

Type of Myotonia: Becker

Country: USA