Catalog

Charcot-Marie-Tooth disease type 2E

No MMS code

Link to WHO Definition

Charcot-Marie-Tooth disease type 2E – http://id.who.int/icd/entity/1476045360

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.