Autosomal dominant Charcot-Marie-Tooth disease type 2E

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Name:
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Description:
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset 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.
ORPHAcode:
99939
Synonyms:
CMT2E
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14