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questions about Thomsen´s and heritage

Hi,

hope anyone can answer this. My husband has got MC type Thomsen´s. He does not have very big problems, but you can see it easily when he walks and his muscles are big and stiff. I have read about heritage and that Thomsen´s follows a dominant heritage-pattern. But how is it possible that none else in his family has got it then? None of his grandparents,parents, siblings or cousins has got it.
That does not make sense to me. If it is a 50 percent chance of getting it. Is it possible that many in his family has got, but without symptoms?
He has had this diagnose for more than 20 years.
Hope someone can explain this to me so I can understand more of this disease.

with kindly regards
Iben

Type of Myotonia: ThomsenĀ“s

Country: Denmark

Re: questions about Thomsen´s and heritage

Iben,

Many years ago all myotonia congenita was diagnosed as Thomsen's. Once DNA testing became widely available we were then able to tell whether the myotonia was dominant (Thomsen's) or recessive (Becker's). There are a few mutations that seem to go either way, but that is very rare.

If there is no family history, then you are right, it is probably not Thomsen's. He most likely inherited a recessive mutation from each parent. Do you have a neurologist who will order DNA testing?

Here is the contact information for a researcher in Copenhagen. He may have access to testing:

Eskild Colding-Jørgensen
Department of Clinical Neurophysiology 19, Glostrup Hospital, University of Copenhagen DK-2600 Glostrup, Denmark. escj@glostruphosp.kbhamt.dk

Jan

Type of Myotonia: Thomsen's

Country: USA

Re: questions about Thomsen´s and heritage

Hey Iben / jan

The only way to know with certainty whether a person has Thomsen is about to undergo a DNA test. There are two hospitals in Denmark which theoretically has the expertise to care for patients like us. Rigshospitalet and Aarhus. The next important step is to find one of the skilled physicians one of the two sites, it is by no means easy.

Jan you are referring to Eskild Colding Jorgensen, it's real enough that he has researched Thomsen and he has made ​​one of the two studies are alvet of Thomsen in this country. The only problem is that he no longer working in hospital care.
At rigshospitalet should contact Professor John Vissing, Neurological Clinic 2082 Rigshospitalet. It's a little harder in Aarhus they have so far not got a new professor in muscle diseases, but it is coming soon.

With a little work and perseverance to find out what your husband fails.


Kjeld

Type of Myotonia: Thomsen

Country: Denmark

Re: questions about Thomsen´s and heritage

Thank you for the information. I will bring it to me husband.

Another thing, is it possible to have thomsen disease, seen on a DNA-test but not having any symptoms? I mean, just be a carrier of thomsens?

with kindly regards Iben

Type of Myotonia: ThomsenĀ“s

Re: questions about Thomsen´s and heritage

Iben, it is possible to have the mutation with no symptoms. This is more common with Becker's since they are recessive mutations and most don't cause symptoms alone...they have to be paired with either another recessive or a dominant mutation for the symptoms to show up or for an EMG to show myotonic discharges.

However my mother was positive for Thomsen's and her EMG showed strong myotonic discharges, and yet she never had any stiffness. Her only symptom was a sensitivity to anesthesia - in fact she had cardiac arrest during surgery because they didn't take the precautions. That's why I believe all family members should be tested whenever anyone shows up with Thomsen's. There's even a possibility the people who carry a recessive mutation can react to anesthesia.

Jan

Type of Myotonia: Thomsen's

Country: USA