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Autosomal dominant slowed nerve conduction velocity

ORPHA:140481· ICD-10 G60.0

Definition

A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Adult