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Autosomal dominant Charcot-Marie-Tooth disease type 2G

Disease definition

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course.

ORPHA:99941

Classification level: Disorder
  • Synonym(s):
    • CMT2G
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult, Elderly
  • ICD-10: G60.0
  • OMIM: 608591
  • UMLS: C1837805
  • MeSH: -
  • GARD: 9195
  • MedDRA: -

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