Hi Liza:

Did they confirm myotonia on an EMG and when they did genetic testing, did they sequence your CLCN1 gene (human skeletal muscle chloride ion channel gene)? If you can get a copy of the report, we might be able to help you figure out what it says specifically.

I have Becker MC. I had severe myotonia in my legs when I was younger and started to develop more problems with my upper body as I got older, including the development of weakness and problems with my hands when I write, very similar to writer's cramp. It's a big problem for me. I have bad hips, which I think might be related to aspects of the MC, and, due to the way my muscles sometimes move, I have to be careful when stretching my torso/back. A few weeks ago I went to stretch my back/shoulders/upper body after sitting for a while and something in my upper back was forced out of place. I think it was either a tendon/ligament slipping out of place and yanking my vertebrae out of alignment, or the strength of my muscles surrounding the joint slipping a disk out of place, but I either way I think the MC was responsible. Thankfully it slipped back into place after a few days of hanging on the fence for traction.

Type of Myotonia: Becker

Country: USA

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