Myotonia Congenita

Posted by kimcvi @kimcvi, Jul 20, 2020

Hello, does anyone here have MC and how to relive muscle pain

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Profile picture for jonesmon @jonesmon

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?

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Hi Kim. I got my DNA results today and they think I have hypokalemic periodic paralysis type 2.

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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

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Profile picture for emh011 @emh011

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

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Hello Emily @emh011, Welcome to Connect. I think there may be quite a few active members in this discussion. You can see the last time a member was active by clicking on their profile icon to the left of the post. It shows when they were last active along with the number of posts they have made and when they joined Connect.

@jonesmon, @larryh123, @skeleton, @callalloo, @jcatrette, and others may be about to share their experience with you. @larryh123 share the Muscular Dystrophy Association site earlier in the discussion here that might be helpful:
--- Myotonia Congenita (Thomsen Disease and Becker Type): https://www.mda.org/disease/myotonia-congenita.

Have you done any research for support information?

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I tried the Life-Flo magnesium lotion and I use it everynite. I tried lots and lots of stuff, but this is the best, Thank you again John@Skeleton

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Hello everyone. I'm 48. Diagnosed with myotonia congenita in early teens. Onset at around aged 8. Confirmed with DNA about 8 years ago. I've tried muscle relaxers. Have begged for sodium channel blockers but Doctors and neurologists here seem reluctant to prescribe them. Does anyone have any experience with them? Or CBD which might also block the channel? I work as a brick stone mason. Which can be very difficult btw, but also can be ok with warm up

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Profile picture for emh011 @emh011

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

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Hi Emily, are you still active on this discussion board?

I am the mother to a 3-year old daughter with MC-Thomsen's (inherited from her dad's side/her paternal mother's side). As far as we know, the only people to have the condition in the state of VT are in his family (my partner's family), so we can relate to not knowing others with it. We had gathered a lot of information over the years about this condition, but a few days ago had a geneticist appointment where they said some of the things that we had "learned" were not true, which was a bit devastating and confusing to us. Information is so hard to find, and each specialist gives us different (or possibly conflicting) information (we have been to OBGYN geneticists, pediatric geneticists, neurologists, pediatric neurologists, and cardiologists). We also hear the phrase "it's so rare, we just don't know" a lot.

I would love to see any information you might have gathered about the condition, since it is so hard to find. Our geneticist recently recommended this page and mda.org (the Muscular Dystrophy Association).

An example of possible misinformation that we had had is that we thought that symptoms didn't begin to show until puberty (around age 10 or so), but it looks like this is the onset for Becker's, and that Thomsen's is infancy or around 2-3 years old. We also thought that symptoms were worse for men than women (since it also appears to work this way in my partner's family), but it appears as if this is true for Becker's and not Thomsen's.

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