Saturday, April 11, 2009

Charcot–Marie–Tooth disease (CMT)

CMT disease (or hereditary motor and sensory neuropathy,
HMSN) is clinically and genetically heterogeneous, but is
generally characterised by wasting and weakness of the distal
limb muscles with or without distal sensory loss. CMT may be
inherited in an autosomal dominant, autosomal recessive or
X linked manner. Clinically, the condition is divided into the
demyelinating CMT1 (with reduced nerve conduction
velocities) and axonal CMT2 (with nerve conduction velocites
largely preserved). Rarer clinical forms exist, including the
severe Dejerine–Sottas syndrome and hereditary neuropathy
with increased reflexes. The related condition HNPP
(hereditary neuropathy with liability to pressure palsies) creates
a milder phenotype characterised by recurrent, usually
transient sensorimotor neuropathies.

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