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Autosomal dominant Charcot-Marie-Tooth disease type 2N

Disease definition

Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.

ORPHA:228174

  • Synonym(s):
    • CMT2N
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: G60.0
  • OMIM: 613287
  • UMLS: -
  • MeSH: -
  • GARD: 12429
  • MedDRA: -

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