Charcot-Marie-Tooth disease type 2E
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.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT 2E
related
CMT2E
exact
Charcot Marie Tooth disease type 2E
related
Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL
exact
Charcot-Marie-Tooth disease, axonal, type 2E
related
Charcot-Marie-Tooth disease, type 2E
exact
NEFL Charcot-Marie-Tooth disease type 2
exact
autosomal dominant Charcot-Marie-Tooth disease type 2E
exact