Orphanet: Charcot Marie Tooth disease type 2B2

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Charcot-Marie-Tooth disease type 2B2

Disease definition

Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.


Classification level: Disorder
  • Synonym(s):
    • AR-CMT2B2
    • Autosomal recessive axonal CMT4C3
    • Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G60.0
  • OMIM: 605589
  • UMLS: C1854150
  • MeSH: C537991
  • GARD: 1249
  • MedDRA: -

Detailed information

Article for general public


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