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hereditary motor and sensory neuropathy, Okinawa type

^ http://purl.obolibrary.org/obo/MONDO_0011468

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. [ Orphanet:90117 ]

Term info

database cross reference
  • OMIM:604484 (Orphanet:90117/e)
  • Orphanet:90117 (OMIM:604484)
  • GARD:0010131 (MONDO:equivalentTo)
  • MESH:C535717 (Orphanet:90117/e)
Subsets

ordo_disease

abbreviation
HMSNP [ Orphanet:90117 ]

abbreviation
HMSNO [ OMIM:604484 MONDO:Lexical ]

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_90117, https://omim.org/entry/604484, http://identifiers.org/mesh/C535717

has exact synonym

HMSNP, hereditary motor and sensory neuropathy, proximal type

has related synonym

neuropathy, hereditary motor and sensory, Okinawa type, HMSNO, hereditary motor and sensory neuropathy, proximal type, formerly

id

MONDO:0011468