Charcot-Marie-Tooth disease type 2B2

What is Charcot-Marie-Tooth disease type 2B2?

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.

Other condition names

  • AR-CMT2B2
  • Autosomal recessive axonal CMT4C3
  • Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2

Inheritance type

Autosomal recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Adult
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "". Data version 1.3.16 / 4.1.7.