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Charcot-Marie-Tooth disease axonal type 2N
rareAutosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.
- Identifiers
- MONDO:0013212 OMIM:613287Orphanet:228174
- Causal genes
- AARS1
- Also known as
- AARS Charcot-Marie-Tooth disease type 2 · autosomal dominant Charcot-Marie-Tooth disease type 2N · Charcot-Marie-Tooth disease type 2 caused by mutation in AARS · Charcot-Marie-Tooth disease type 2N · Charcot-Marie-Tooth disease, axonal, type 2N
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