Orphanet: Autosomal dominant Charcot Marie Tooth disease type 2J

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Autosomal dominant Charcot-Marie-Tooth disease type 2J

Disease definition

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.


Classification level: Disorder
  • Synonym(s):
    • CMT2J
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G60.0
  • OMIM: 607736
  • UMLS: C1843153
  • MeSH: -
  • GARD: 9198
  • MedDRA: -

Detailed information

Article for general public


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