Orphanet: Autosomal dominant Charcot Marie Tooth disease type 2E
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Autosomal dominant Charcot-Marie-Tooth disease type 2E

Disease definition

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset 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

Classification level: Disorder
  • 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: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

Detailed information

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Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

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Specialised Social Services

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