Charcot-Marie-Tooth disease (hereditary)

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Central nervous system

Charcot-Marie-Tooth disease defines a group of inherited, slowly progressive disorders that result from progressive damage to nerves. Symptoms include numbness and wasting of muscle tissue, first in the feet and legs, then in the hands and arms.

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

Charcot-Marie-Tooth diseases involve damage to nerves (neuropathy), usually from loss of the electrical insulation (myelin ) around nerve fibers. All nerves are affected, but motor nerves (the nerves that stimulate movement) are most severely affected.

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, autosomal recessive as well as X-linked recessive inheritance patterns. At least 4 genes have been discovered to be the cause of this group of diseases.

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

The disorder most commonly affects the nerves 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 and muscle tone, and eventual loss of muscle mass caused by lack of nervous stimulation to the muscles.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.