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last update : 03-01-2019
Symbol HMSNP
Location 3q12.3
Name hereditary motor and sensory neuropathy, proximal
Other name(s) neuropathy, hereditary motor and sensory, Okinawa type
Corresponding gene TFG
Other symbol(s) HMSNO
Main clinical features
  • adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus
  • Genetic determination autosomal dominant
    Related entries including infantile neuroaxonal dystrophy (INAD) (PMID: 29971521)
    Function/system disorder neurology
    Type disease