Autosomal dominant Charcot-Marie-Tooth disease type 2E

Orpha code: 99939OMIM code: 607684

Definition

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.

Disease data
Classification

Disease

Synonyms
CMT2E
CMT2E
ORPHA code
99939
OMIM code
607684
ICD10 code
G60.0
ICD11 code
-

No additional description.

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