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Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 3,300 people.
CMT affects your peripheral nerves. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak.
There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Many people with CMT lead active lives and have a normal life span. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help you cope.
Genetics Home Reference
'''Charcot-Marie-Tooth disease''', also known as Hereditary Motor and Sensory Neuropathy (HSNM) or Peroneal Muscular Atrophy, is an inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease. The disease is presently incurable. The disorder is caused by the absence of molecules that are essential for normal function of the nerves due to deficiencies in the structure of the genes coding these molecules. The absence of these chemical substances gives rise to dysfunction either in the axon or the myelin sheath of the nerve cell. Symptoms usually begin in late-childhood or early adulthood. Usually, the initial symptom is foot drop due to involvement of the peroneal nerve, which is responsible for raising the feet, early in the course of the disease. This can also cause hammer toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to "stork leg" appearance. Symptoms and progression of the disease can vary. Extreme emotional stress is thought to hasten the progression. The diagnosis is established by electromyography examination (which shows that the velocity of nerve impulse conduction is decreased and the time required to charge the nerve is increased) and nerve biopsy. Genetic markers have been identified for some, but not all forms of the disease. The disease is named for those who classically described it: Jean-Martin Charcot (1825-1893) and his pupil Pierre Marie (1853-1940) (''"Sur une forme particulière d'atrophie musculaire progressive, souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains"'', Revue médicale, ... [ Read More ]
MDA Publications - Facts about Charcot-Marie-Tooth disease.
General Practice Notebook - Charcot-Marie-Tooth disease - Clinically-oriented information.
Charcot-Marie-Tooth Syndrome - Information on this disease: peroneal muscular atrophy or CMT.
CMTWorld.org - Patient support for Charcot Marie Tooth disease including free access, articles, news, forums, and FAQs.
Charcot-Marie-Tooth Association - Organization aiming at supporting patient, public education and promotion of research on Charcot-Marie-Tooth disease.