Krabbe disease, like many other storage diseases, has an early onset form and a late onset form. In the early form, symptoms begin in the first months of life with feeding problems and failure to thrive , unexplained fevers, and vomiting . Changes in muscle tone are frequent, and seizures may begin very early and are severe. Visual and hearing losses are progressive. Affected children eventually assume a rigid unusual body position called decerebrate posturing.
Death follows shortly thereafter, usually before the second year of life.
The late onset form of the disease begins in late childhood or early adolescence . Visual problems progressing to blindness may be the first symptom. Genetic counseling is recommended for prospective parents with a family history of Krabbe disease. Carrier states may be recognized by decreased galactocerebroside beta-galactosidase levels in their white blood cells or skin fibroblasts. Prenatal diagnosis is possible by measuring galactocerebroside beta-galactosidase levels in cultured amniotic fluid cells or from cultured chorionic villi cells.