Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2N
Definition
Autosomal 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.
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, CMT2N — per MONDO