Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1D
Definition
A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
Also known as Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2, Charcot-Marie-Tooth disease, type 1D, CMT1D, EGR2 Charcot-Marie-Tooth disease type 1, hereditary motor and sensory neuropathy 1D, HMSN1D — per MONDO