Orphanet: Autosomal dominant Charcot Marie Tooth disease type 2I

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Autosomal dominant Charcot-Marie-Tooth disease type 2I

Disease definition

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.


Classification level: Disorder
  • Synonym(s):
    • CMT2I
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G60.0
  • OMIM: 607677
  • UMLS: C3888087
  • MeSH: -
  • GARD: 9197
  • MedDRA: -

Detailed information

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