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Charcot-Marie-Tooth disease type 2E
rareAutosomal 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.
- Identifiers
- MONDO:0011894 OMIM:607684Orphanet:99939
- Causal genes
- NEFL
- Also known as
- autosomal dominant Charcot-Marie-Tooth disease type 2E · Charcot Marie Tooth disease type 2E · Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL · Charcot-Marie-Tooth disease, axonal, type 2E · Charcot-Marie-Tooth disease, type 2E
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