Thomsen disease
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| Thomsen disease Classification and external resources | |
| ICD-10 | G71.1 |
|---|---|
| ICD-9 | 359.2 |
| OMIM | 160800 |
| DiseasesDB | 8736 |
| MeSH | D009224 |
Thomsen disease, a form of Myotonia congenita, is a muscular genetic disorder characterized by muscle stiffness (cramp) and an inability of the muscle to relax after a voluntary contraction. The affected muscle functions normally after a few repetitions.
Causes
It is associated with mutations in the chloride channel gene CLCN1.
Presentation
The disorder only affects voluntary muscles, so involuntary muscles such as the heart or muscles involved in the digestion process are not affected.
Treatment and prognosis
There is no known cure but some drugs may relieve symptoms. These include: Dilantin, Procainamide, Phenytoin and Mexiletine.
The disease is not fatal.
History
Julius Thomsen, a Danish physician, was the first to describe the disease, citing symptoms of his own family members.
External links
de:Myotonia congenita ThomsenAcknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
