Charcot-Marie-Tooth disease type 1D
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.
MONDO:0019011
Charcot-Marie-Tooth disease type 1
is_a
CMT 1D
related
CMT1D
exact
Charcot Marie Tooth disease type 1D
related
Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2
exact
Charcot-Marie-Tooth disease, demyelinating, type 1D
related
Charcot-Marie-Tooth disease, type 1D
exact
EGR2 Charcot-Marie-Tooth disease type 1
exact
HMSN1D
exact
hereditary motor and sensory neuropathy 1D
exact