/Charcot-Marie-Tooth disease axonal type 2N

Charcot-Marie-Tooth disease axonal type 2N

Rare Disease

MONDO:0013212

Also Known As

AARS Charcot-Marie-Tooth disease type 2CMT2NCharcot-Marie-Tooth disease type 2 caused by mutation in AARSCharcot-Marie-Tooth neuropathy axonal type 2Nautosomal dominant Charcot-Marie-Tooth disease type 2Nautosomal dominant axonal Charcot-Marie-Tooth disease type 2NCharcot-Marie-Tooth disease type 2NCharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2NCharcot-Marie-Tooth disease, axonal, type 2NCharcot-Marie-Tooth neuropathy, 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.