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GENATLAS PHENOTYPE
last update : 19-04-2010
Symbol HMSNR
Location 10q22-q23
Name hereditary motor and sensory neuropathy, Russe type
Other name(s) Charcot-Marie-Tooth neuropathy, type 4G
Corresponding gene HK1
Other symbol(s) CMT4G
Main clinical features
  • Gypsy kindred, early onset, presenting with muscle weakness andwasting tendon areflexia, skeletal and foot deformities, sensory loss, severe decreased nerve conduction velocities and increased threshold for electrical stimulation (telomeric to EGR2)
  • delayed early motor development, distal lower limb weakness apparent at age 515 years, upper limb involvement at age 1040 years, and steady progression to total muscle paralysis below the knees and often below the elbows by the fourth to fifth decade of life
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)