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Autosomal dominant Charcot-Marie-Tooth disease type 2E

Disease definition

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

ORPHA:99939

  • Synonym(s):
    • CMT2E
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult, Infancy
  • ICD-10: G60.0
  • OMIM: 607684
  • UMLS: C1843225
  • MeSH: -
  • GARD: 9193
  • MedDRA: -

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