You are using an outdated browser. Please upgrade your browser to improve your experience.

young adult-onset distal hereditary motor neuropathy

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.
Uniprot Description An autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired.
Mondo Term and Equivalent IDs
MONDO:0013947:  young adult-onset distal hereditary motor neuropathy
Orphanet:314485: 
UMLS:C3553989: