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
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Adult
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.