Distal hereditary motor neuropathy type 7
Distal hereditary motor neuropathy type 7
Definition
Distal hereditary motor neuropathy type 7 is 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.
Also known as dHMN7, distal spinal muscular atrophy with vocal cord paralysis — per MONDO