Charcot-Marie-Tooth disease type 2B2

Charcot-Marie-Tooth disease type 2B2 is a form of peripheral nerve disorder that affects the axons of nerves responsible for movement and sensation. It is described as a sensorimotor polyneuropathy and was identified in a large consanguineous Costa Rican family of Spanish ancestry. This condition falls under the group of Charcot-Marie-Tooth diseases that primarily affect the peripheral nerves. The description of the condition comes from studies in specific families, and scientific literature uses several names and abbreviations for it including AR-CMT2B2 and CMT4C3.

Information about symptoms is currently limited for this condition.

This condition is believed to be inherited in an autosomal recessive pattern. Changes in the PNKP gene have been linked to Charcot-Marie-Tooth disease type 2B2, which means that people with this condition have genetic alterations that affect the normal function of this gene.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions for Charcot-Marie-Tooth disease type 2B2 is currently limited. Further studies may help to better understand the condition and develop more insights into its underlying genetic causes.