distal hereditary motor neuropathy type 7
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.
MONDO:0015362
neuronopathy, distal hereditary motor, autosomal dominant
is_a
dHMN7
exact
distal spinal muscular atrophy with vocal cord paralysis
exact
SPAC3C7.12