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Charcot-Marie-Tooth disease (hereditary)
Alternative namesProgressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathy
DefinitionCharcot-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.
Causes, incidence, and risk factors
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 four genes have been discovered to be the cause of this group of diseases.
Signs and testsAn examination by touch may reveal thickened nerve bundles under the skin of the legs in the demyelinating form of Charcot-Marie-Tooth disease. The stretch reflexes in the legs are absent. There is loss of muscle control and atrophy in the foot or leg. There is difficulty with lifting up the foot (dorsiflexion) and with toe-out movements (eversion).
TreatmentThere is no known cure for Charcot-Marie-Tooth disease. Treatment is aimed at maximizing independence. Orthopedic surgery or equipment (such as braces or orthopedic shoes) may make it easier to walk.
Vocational counseling, occupational therapy, or physical therapy may be appropriate for some people to help maintain muscle strength and maximize independent functioning.
Expectations (prognosis)Charcot-Marie-Tooth disease is slowly progressive, eventually causing disability. It is not life-threatening. It is not usually painful, but there may be numbness in the area.
Calling your health care providerCall for an appointment with your health care provider if there is persistent weakness or decreased sensation in the feet or legs.
PreventionGenetic counseling and testing is advised if there is a strong family history of the disorder.
Update Date: 7/25/2003Douglas R. Stewart, M. D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT