Charcot-Marie-Tooth disease axonal type 2C

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

Also known as: CMT2C, Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4, HMSN2C, TRPV4 Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2C, CMT 2C, Charcot Marie Tooth disease type 2C, Charcot-Marie-Tooth disease type 2C

9 clinical trials for this condition and its sub-types.