Definition of Charcot-marie-tooth disease
1. Noun. A form of neuropathy that can begin between childhood and young adulthood; characterized by weakness and atrophy of the muscles of the hands and lower legs; progression is slow and individuals affected can have a normal life span; inheritance is X-linked recessive or X-linked dominant.
Medical Definition of Charcot-marie-tooth disease
1.
A slowly progressive genetic disorder which is the most common of the inherited peripheral neuropathies, and encompasses a family of disorders characterised by distal muscle weakness and diminished nerve conduction velocity, due to the destruction of nerves with degeneration of the myelin sheath. Features include muscle atrophy in the feet and the legs, progressing to the hands and arms, often with foot drop and a slapping gait.
The predominant variety, designated CMT1, is an autosomal dominant disorder caused, in most cases, by duplication of a very large (1.5 Mb) region on chromosome 17p11.2-12. A related condition, hereditary neuropathy with liability to pressure palsies (HNPP), is associated with a large deletion in the same general region.
There is no specific treatment for this disorder.
(16 Dec 1997)
Lexicographical Neighbors of Charcot-Marie-Tooth Disease
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