Charcot-Marie-Tooth disease type 2D

MONDO:0011091

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.

Also known as: CMT2D, Charcot-Marie-Tooth disease type 2 caused by mutation in GARS, Charcot-Marie-Tooth disease, type 2D, GARS Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2D, CMT 2D, Charcot Marie Tooth disease type 2D, Charcot-Marie-Tooth disease, axonal, type 2D

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