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

hereditary motor and sensory neuropathy, Okinawa type

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.
Uniprot Description A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis.
Mondo Term and Equivalent IDs
MONDO:0011468:  hereditary motor and sensory neuropathy, Okinawa type
GARD:0010131: 
MESH:C535717: 
Orphanet:90117: