Dear all,

I am really glad to finally find a forum for this kind of sickness (regrettably I am not an native english speaking person so my apologies in advance)

I lately received the diagnosis of having myotonia thomsen. I am 25 now and are suffering from this illness since I can remember. As far as I can see I am suffering from a very weak version of this illness. Meaning I sometimes have Problems with moving parts of my Body (especially my mouth and my hands)

Personally I think I can cope with that, but what really frightens me off is thinking about becoming pregnant.
Does anyone have experience with that?
I heard that it's inherited dominantly, but is it getting worse from Generation to Generation. My parents do not suffer at all from this disease.

Furthermore are there any experiences on how this sickness will develop. Is it getting worse?

To make it short - I am really really afraid because I don't know what will come. :(

I Hope to receive so answers that might help me.

Thanks in advance!

Best

Mel

Welcome, Mel!

Have you had DNA testing done to determine the exact type of myotonia that you have? Many doctors still call both types Thomsen's, but the dominantly inherited form is Thomsen's and the recessive form is Becker's. If your parents don't have symptoms, and no other family members have symptoms, then it's almost certain that you have Becker's instead. In that case your children would have almost zero chance of having symptoms, even if they inherit one mutation from you, because it takes two for the condition to show up.

Many doctors also confuse myotonia congenita with myotonic muscular dystrophy. That is a progressive condition and it does tend to get worse with each generation if it is inherited from the mother. Myotonia congenita is not considered a progressive condition but you can get worse from taking certain medications or being exposed to certain environmental chemicals like pesticides and herbicides.

As far as pregnancy, if you do a search using the box above, there are many posts on pregnancy. Because hormones affect the chloride ion channel, you may be stiffer during that time, but since the uterus is a smooth muscle, not a skeletal muscle, it should not affect childbirth. Plenty of "normal" women have difficult pregnancies and births, so it's hard to predict what your experience will be, but many of us here are mothers and had no problem.

Jan

Type of Myotonia: Thomsen's

Country: USA

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

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