CMT1, CMT2, CMT3 (Dejerine-Sottas disease), CMT4, and CMTX
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Charcot-Marie-Tooth, or CMT, is a common inherited neurological disorder, found world-wide in all races and ethnic groups. It was identified in 1886 by three physicians, Jean-Marie-Charcot, Pierre Marie, and Howard Henry Tooth. It is characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes.
The first sign of CMT is generally a high arched foot or problems with walking. Other symptoms of the disorder may include foot bone abnormalities such as high arches and hammer toes, problems with hand function and balance, occasional lower leg and forearm muscle cramping, loss of some normal reflexes, occasional partial sight and/or hearing loss, and, in some patients, scoliosis (curvature of the spine).
CMT is a disorder of genetic heterogeneity, involving different genes, and different patterns of inheritance, but each type produces the same symptoms. The principal types include CMT1, CMT2, CMT3 (Dejerine-Sottas disease), CMT4, and CMTX. A description of these can be found at:
(Charcot-Marie-Tooth Disease Fact Sheet)
Full expression of CMT's clinical symptoms generally occurs by age 30. The more severe symptoms are related to an earlier age of onset.
CMT patients slowly lose normal use of their feet/legs and hands/arms as nerves to the extremities degenerate. The muscles in these extremities become weakened because of the loss of stimulation by the affected nerves.
At present there is no cure for CMT, but proper foot care including custom-made shoes and leg braces may minimize discomfort and help retain function. Physical therapy and moderate activity are often recommended to maintain muscle strength and endurance. Splinting, specific exercises, adaptive devices and surgery where medically indicated may help maintain hand function.
CMT is not a fatal disease and the disorder does not affect normal life expectancy. Most individuals with CMT continue to work. Wheelchair confinement is rare.
Further information and support
National Institute of Neurological Disorders and Stroke
Charcot Marie Tooth Assocation
Charcot-Marie-Tooth Association Australia Inc.
Building 22, Concord Hospital, CONCORD NSW 2139
Web site: cmt.org.au
Email: [email protected]
Tel (02) 9767 5105
Fax (02) 9767 5167
Muscular Dystrophy Assocation of Australia
Locked Bag 9932, Beaconsfield NSW 2014
Tel (02) 9697 9111
ABC News in Science
For Physicians - GeneClinics
Reviewed by: Professor Garth Nicholson, Molecular Medicine Laboratory, Concord Hospital, Concord.