/Charcot-Marie-Tooth disease type 2I

Charcot-Marie-Tooth disease type 2I

Rare Disease

MONDO:0011889

Also Known As

CMT2ICharcot-Marie-Tooth disease, type 2ICharcot-Marie-Tooth neuropathy type 2ICMT 2ICharcot Marie Tooth disease type 2ICharcot-Marie-Tooth disease, axonal, type 2ICharcot-Marie-Tooth neuropathy, type 2Iautosomal dominant Charcot-Marie-Tooth disease type 2I

Definition

Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.