Orphanet: Autosomal dominant Charcot Marie Tooth disease type 2D

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Autosomal dominant Charcot-Marie-Tooth disease type 2D

Disease definition

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.


  • Synonym(s):
    • CMT2D
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: G60.0
  • OMIM: 601472
  • UMLS: C1832274
  • MeSH: -
  • GARD: 1251
  • MedDRA: -

Detailed information

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Additional information

Further information on this disease

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