/Charcot-Marie-Tooth disease type 2D

Charcot-Marie-Tooth disease type 2D

Rare Disease

MONDO:0011091

Also Known As

CMT2DCharcot-Marie-Tooth disease neuronal type 2DCharcot-Marie-Tooth disease type 2 caused by mutation in GARSCharcot-Marie-Tooth disease, type 2DCharcot-Marie-Tooth neuropathy type 2DGARS Charcot-Marie-Tooth disease type 2autosomal dominant Charcot-Marie-Tooth disease type 2DCMT 2DCharcot Marie Tooth disease type 2DCharcot-Marie-Tooth disease, axonal, type 2DCharcot-Marie-Tooth disease, neuronal, type 2DCharcot-Marie-Tooth neuropathy, type 2D

Definition

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.