A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth 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.
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No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
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Designation Type
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Code Flag
3308182017
Autosomal dominant Charcot-Marie-Tooth disease type 2E