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  Myotonia Congenita 
Synonym(s):  Thomsen Disease, Parmyotonia Congenita
Reviewed  11-08-2001  

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Table of Contents (click to jump to sections)

What is Myotonia Congenita?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations

What is Myotonia Congenita?
Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles. Symptoms may include muscle stiffness and hypertrophy (enlargement). The disorder is caused by a genetic mutation involving the chloride channel of the muscles. The muscle stiffness, which particularly occurs in the leg muscles, may be enhanced by cold and inactivity, and is often relieved by exercise.

Is there any treatment?
Most cases of myotonia congenita do not require treatment. Sometimes, however, symptoms of the disorder may be relieved with quinine, phenytoin and other anticonvulsant drugs. Physical therapy and other rehabilitative measures may be used to help muscle function. Genetic counseling is available.

What is the prognosis?
Most cases of myotonia congenita are nonprogressive and relatively nonlimiting. A precise diagnosis allows physicians to distinguish mild myotonia congenital (also called Thomsen type) from the more severe form, called Becker type.

What research is being done?
The NINDS supports research on genetic disorders such as myotonia congenita. The goals of these studies are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them.

Select this link to view a list of studies currently seeking patients.

 Organizations

National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
mda@mdausa.org
http://www.mdausa.org/
Tel: 520-529-2000 800-572-1717
Fax: 520-529-5300


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All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.


Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892




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