Autosomal dominant Charcot-Marie-Tooth disease type 2E

Orpha code: 99939OMIM code: 607684

Definicja

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
Klasyfikacja

Disease

Synonimy
CMT2E
CMT2E
Kod ORPHA
99939
Kod OMIM
607684
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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