Charcot-Marie-Tooth disease type 2B2

Get in touch with RARE Concierge.

Contact RARE Concierge

Charcot-Marie-Tooth disease type 2B2

Synonyms: AR-CMT2B2 | Autosomal recessive axonal CMT4C3 | Autosomal recessive axonal 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

Newly diagnosed with
Charcot-Marie-Tooth disease type 2B2?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Hereditary Neuropathy Foundation

Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization which mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures.

Clinical Trials

For a list of clinical trials in this disease area, please click here.