Charcot-Marie-Tooth disease type 2I
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.
Also known as Charcot-Marie-Tooth disease, type 2I, CMT2I — per MONDO