Distal hereditary motor neuropathy type 7
ORPHA:139589· ICD-10 G12.2
Definition
A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood