Preferred Label : Charcot-Marie-Tooth disease type 2E;
ICD-11 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.;
Origin ID : 1476045360;
Currated CISMeF NLP mapping
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.
