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Charcot-Marie-Tooth disease (hereditary)

Definition:
Charcot-Marie-Tooth disease defines a group of slowly progressive, inherited disorders that result from progressive damage to nerves. In addition to loss of sensation, there is wasting of muscle tissue in the feet and legs, then hands and arms.

Alternative Names:
Progressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathy

Causes, incidence, and risk factors:

Charcot-Marie-Tooth diseases involve damage to nerves (neuropathy), usually from demyelination or loss of the electrical insulation around nerve fibers. All nerves are affected, but motor nerves are disproportionately so.

The nerves in the legs are affected first and most severely. Symptoms usually begin between mid-childhood and early adulthood. The disorder is inherited, with autosomal dominant and recessive as well as X-linked recessive inheritance patterns. At least four genes have been discovered to be the cause of this group of diseases.

Charcot-Marie-Tooth disease causes destruction (degeneration) of the covering of the nerve cells (myelin sheath) in some people. In other people, the central (axon) portion of the nerve cell degenerates.

The disorder most commonly affects the nerve cells to the feet and legs, most significantly the peroneal nerve. The damage is slowly progressive, usually beginning with foot drop and progressing up the legs. There is a loss of muscle control, loss of muscle tone, and eventual loss of muscle mass caused by lack of nervous stimulation to the muscles.



Review Date: 8/6/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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