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Definition

An autosomal recessive neurologic disorder characterized by early-onset optic atrophy, progressive visual loss, and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease, with variable age at onset and severity. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities.

Acronym

HMSN6B

Synonyms

Charcot-Marie-Tooth disease 6B
CMT6B
Hereditary motor and sensory neuropathy type VIB
HMSN VIB
Neuropathy, hereditary motor and sensory, type VIB

Keywords

Charcot-Marie-Tooth disease
Neurodegeneration

 
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