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Autosomal dominant Charcot-Marie-Tooth disease type 2V

Disease definition

A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.

ORPHA:447964

  • Synonym(s):
    • Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation
    • CMT2V
    • Hereditary adult-onset painful axonal polyneuropathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Elderly, Adolescent
  • ICD-10: G60.0
  • OMIM: 616491
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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