Myotonia Congenita

Hi Kim,
I was recently diagnosed by three Dr's two of who were neurologists. They tell me I have Myotonia congenita AKA Thomsen Disease. I am 53 and mine seem to be triggered when I had to drag a guy out of my car into jail in August of 21. Causing back problems which led to what was believed to be sciatica. After multiple emg's they figured it was Thomsen’s and I had no trapped Nerves. I have tried a bunch of different medications, and nothing has worked. Gabapentin sent my AHI so high I had to stop it plus it was not working well. So now I just had my blood sent of to a lab in San Francisco for DNA testing.

I have pain in my legs like sciatic pain going from my butt down too my feet and into my toes. Then I get pains that come from my back around the front of my chest. I have shooting pains all over my legs in different places.

I have found from my research that Thomsen’s is common in Scandinavian countries where one in ten thousand have Thomsen’s as opposed to America where it is one in one hundred thousand people. So, it is very rare. I can trace my heritage back to the Viking and Dane invasions of England etc. So, I have to believe that Is how I inherited the disease.

I live in the Capitol City here in Minnesota and am beginning to look for resources and I am having the same problems you were experiencing a few years ago as I see I am late to the party 😊

Have you found anything that may help?

Hello,
I know this discussion board might not be active anymore, but I was researching Myotonia Congenita at Mayo as well and came across this page. I work at Mayo and have this rare condition. My mother has it as well. I have never met anyone else that has it. If you are still active on this website, please message me to connect!

I was diagnosed when I was about 6 years old. I am 20 now. I have dealt with it my whole life growing up and playing sports. I have Thomsen's version and have tried 2 medications to help with symptoms. I just requested to get in with a neurologist at Mayo, if anyone has any recommendations please let me know! I currently use Acetazolamide with the best results, but I often get a racing heart and tingly feelings in my mouth, throat, hands, and feet. I have also noticed that caffeine and sugary drinks like coffee and soda make my stiff movements worse. As well as colder weather for some reason. When it is warm I have fewer flare-ups. When it is colder, I am often more stiff, sore, and in pain.
Emily