Krabbe disease

info · Genetic · ICD-10: E75.23

Signs and symptoms

Reduced tissue galactocerebrosidase activity
Progressive spasticity
Axial hypotonia
Hyperactive deep tendon reflexes
Hypertonia
Hearing impairment
Seizure
Hypotonia
Neurodegeneration
Failure to thrive

Also known as: Diffuse globoid body sclerosis; GLOBOID CELL LEUKOENCEPHALOPATHY; Galactosylceramide beta-galactosidase deficiency; Krabbe's disease; Krabbe's leukodystrophy