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Definition

An autosomal recessive neurologic disorder characterized by childhood onset of axonal, sensorimotor polyneuropathy affecting mainly the lower limbs, and adult-onset optic atrophy. Clinical features include progressive distal muscle weakness and atrophy, significant standing and walking difficulties, areflexia, neurogenic pain and progressive visual impairment.

Acronym

HMSN6C

Synonyms

Charcot-Marie-Tooth disease 6C
CMT6C
Hereditary motor and sensory neuropathy type VIC
HMSN VIC
Neuropathy, hereditary motor and sensory, type VIC
Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy

Keywords

Charcot-Marie-Tooth disease
Neurodegeneration

 
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Main funding by: National Institutes of Health

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