Charcot-Marie-Tooth disease, demyelinating, type 1G
A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015626
Charcot-Marie-Tooth disease
is_a
CMT1G
exact
Charcot-Marie-Tooth disease, demyelinating, type 1G
exact
PMP2-related Charcot-Marie-Tooth disease type 1
exact