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Re: Myotonia congenita thomsen

Jan,

Thanks so much for your prompt reply.

I have had a DNA Testing. The result was that it is 'very likely' that it is thomsen. They found a combination that is Not known to them yet. Which makes it even more difficult for me to understand and deal with it.
I don't know whether the DNA Results of Becker and thomsen are similar or completly different so I don't know whether it might also be Becker. Neither my parents nor my sister or any other member of my Family have any Symptoms. We did nevertheless do a testing but are still waiting for the Results.
But my doctor told my it might also be a new Mutation.

The myotonic muskular dystrophy was tested and was negative. Did I get you right that neither Becker nor thomsen are progressive?

Thanks for the hint with the other Blogs. I will Check on that.
My concern is Not necessarily about the Birth or pregnancy itself but mainly about the inheritance. At the Moment my myotonia is so weak that it bothers me of course sometimes, but I have no Real Problems with it. People don't Even Realise it. But i am afraid that might get worse in the Future or when it's inherited.

Doctors seem to know nothing about the disease and can Not give any advice which is quite dissatisfying!

Best

Mel

Re: Myotonia congenita thomsen

Mel, it takes two mutations to cause Becker's, the recessive form. Thomsen's only requires one mutation.

If you want to email me the results I can check in the genetic database that I have. There are also mutations on the sodium ion channel that can cause myotonia. Do you know if they checked both chloride and sodium channels?

Thomsen's and Becker's are not considered to be progressive. We are just as susceptible to other conditions as we age so many people feel worse as they get older, but that is true in the general population, also.

Jan

Type of Myotonia: Thomsen's

Country: USA