/Charcot-Marie-Tooth disease type 2E

Charcot-Marie-Tooth disease type 2E

Rare Disease

MONDO:0011894

Also Known As

CMT2ECharcot-Marie-Tooth disease type 2 caused by mutation in NEFLCharcot-Marie-Tooth disease, type 2ECharcot-Marie-Tooth neuropathy type 2ENEFL Charcot-Marie-Tooth disease type 2autosomal dominant Charcot-Marie-Tooth disease type 2ECMT 2ECharcot Marie Tooth disease type 2ECharcot-Marie-Tooth disease, axonal, type 2ECharcot-Marie-Tooth neuropathy, type 2E

Definition

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.