Orphanet: Charcot Marie Tooth disease type 2H

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Charcot-Marie-Tooth disease type 2H

Disease definition

Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.


Classification level: Disorder
  • Synonym(s):
    • AR-CMT2C
    • Autosomal recessive axonal CMT4C2
    • Axonal Charcot-Marie-Tooth disease with pyramidal involvement
    • CMT2H
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • OMIM: 607731
  • UMLS: C1843173
  • MeSH: C535415
  • GARD: 9196
  • MedDRA: -

Detailed information

Article for general public


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