hi guys if anyone could help id be greatful im still awaiting a diognosis ive had dna bloodtests and they came back negitive for some different kinds of muscular diseases although my neurologist said hes pretty certain i have mc im going next month for that electrical muscle test but i thought mc could be shown just by the dna blood test im also on the waiting list for a muscle biopsy???. Did anyone else have to have this done just to see if its mc? also my doc perscribed me epautin tablets and i took them for a few weeks but they made me really drowzy and i found them to make no difference at all. Ive seen that alot of people on here are on mexiltine can i ask for that? is it available in northern ireland and does it make a differnce im starting a new job next month and would a medication to make day to day things a bit easier as my stiffness is so bad at the minute from i had my baby if anyone could help id be so greatful as im so sick of not being able to move properly and would love to just come to a set of stairs without feeling the dread of anyone seeing me trying to climb them :(:(

Type of Myotonia: awaiting results

Country: uk

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