/Charcot-Marie-Tooth disease axonal type 2C

Charcot-Marie-Tooth disease axonal type 2C

Rare Disease

MONDO:0011633

Also Known As

CMT2CCharcot-Marie-Tooth disease type 2 caused by mutation in TRPV4Charcot-Marie-Tooth neuropathy type 2CHMSN2CTRPV4 Charcot-Marie-Tooth disease type 2autosomal cominant axonal Charcot-Marie-Tooth disease type 2Cautosomal dominant Charcot-Marie-Tooth disease type 2Chereditary motor and sensory neuropathy type IIcCMT 2CCharcot Marie Tooth disease type 2CCharcot-Marie-Tooth disease type 2CCharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2CCharcot-Marie-Tooth disease, axonal, type 2CCharcot-Marie-Tooth neuropathy, type 2CHMSN 2 CHMSN 2Chereditary motor and sensory neuropathy 2 Chereditary motor and sensory neuropathy, type 2Chereditary motor and sensory neuropathy, type IIC

Definition

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.