/hereditary motor and sensory neuropathy, Okinawa type

hereditary motor and sensory neuropathy, Okinawa type

Rare Disease

MONDO:0011468

Also Known As

HMSNPhereditary motor and sensory neuropathy, proximal typeHMSNOhereditary motor and sensory neuropathy, proximal type, formerlyneuropathy, hereditary motor and sensory, Okinawa type

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.