Liza,

It's a bit unusual that you wouldn't have symptoms until you were 35. Did you start using any medications like statin drugs or asthma inhalers?

All of us here with Thomsen's or Becker's myotonia congenita have a chloride channel mutation. There are over 100 that have been identified. Like Jenna said, if you have the report from DNA testing I can look up the exact mutation/mutations and give you more information.

I have had quite severe neck problems caused by a car accident along with another genetic condition called Ehlers Danlos Syndrome which causes weakened connective tissue. The myotonia will be worse in areas where there is nerve damage because the muscles overfire to try to protect or guard the nerve.

Carbamazepine is not used very frequently for MC any more. Since you're in the US you should be able to get a prescription for Mexitil which is far more effective for the majority of people. It probably won't help the neck pain, but will at least help with the myotonia. Have you tried Neurontin/gabapentin? It can be very effective for nerve pain and it also targets chloride ion channels.

Jan

Type of Myotonia: Thomsen's + SCN4A Mutation

Country: USA