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Charcot-Marie-Tooth disease
<disease> 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.
Previous:
Charcot-Bouchard aneurysm,
Charcot, Jean,
Charcot-Leyden crystals,
charcot-marie diseaseNext:
Charcot-Neumann crystals,
Charcot-Robin crystals,
Charcot's arteries
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