hereditary motor and sensory neuropathy, Okinawa type
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.
MONDO:0002316
motor peripheral neuropathy
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
HMSNO
related
HMSNP
exact
hereditary motor and sensory neuropathy, proximal type
exact
neuropathy, hereditary motor and sensory, Okinawa type
related