Neuropathy, hereditary motor and sensory, Okinawa type
Alternate names
HMSNO; HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE; HMSNP
Definition
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.
NIH genetic and rare disease info
Neuropathy, hereditary motor and sensory, Okinawa type is a rare disease.
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