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Myotonia congenita

• Overview
• Symptoms
• Treatment
• Prevention

Alternative Names:

Thomsen's disease

Symptoms:

The hallmark of this condition is the myotonia -- the inability of the muscle to quickly relax after voluntary contraction. For example, after a handshake, the affected individual is only very slowly able to open and disengage his hand.

Early symptoms may include gagging and difficulty in swallowing , because oropharyngeal muscles are slow to relax. Initial movements may be stiff but improve with immediate repetition.

Children with myotonia congenita often appear to be muscular and well-developed. There may not be symptoms of myotonia congenita until the child is 2 or 3 years old.

Signs and tests:

• There is often a family history of myotonia congenita.
• An EMG demonstrates myotonic potentials.
• A muscle biopsy may show an absence of type 2B fibers.

• Review Date: 5/16/2006
• Reviewed By: Daniel Kantor, M.D., Director of the Comprehensive MS Center, Neuroscience Institute, University of Florida Health Science Center, Jacksonville, FL. Review provided by VeriMed Healthcare Network.

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