Catalog

Charcot-Marie-Tooth disease type 2C

No MMS code

Link to WHO Definition

Charcot-Marie-Tooth disease type 2C – http://id.who.int/icd/entity/2074400987

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised 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.