Ciara,

There are different DNA tests for each type of myotonic disorder, so perhaps he just did myotonic muscular dystrophy? If you have a tough time with the diagnosis you can go to PeriodicParalysis.org and sign up (free), then go the genetic testing page and have your doctor fill out the forms to send a sample to Dr. Lehmann-Horn's lab in Germany. It is also free, but it may take several months to get results. He will check for both chloride and sodium ion channel myotonias. It is possible that you have something like paramyotonia congenita, and that is not usually done in routine MC/MMD testing.

Mexiletine is not available in the UK any more. You can get it through CanadaDrugs.com with a prescription and pay cash, but it's quite expensive. Most doctors are changing over to Flecainide or Lamictal (lamotrigene). Phenytoin (Epinutin) is a very old treatment for MC and is not nearly as effective as the newer medications. Another possibility is Diamox (acetazolamide). That seems to work well for many people and has few side effects. Sometimes you just have to experiment until you find the right one for your particular mutation.

I think we all have nightmares about stairs :-)

Jan

Type of Myotonia: Thomsen's

Country: USA