Canavan disease is a severe, progressive nervous system disorder that usually results in early childhood death. Affected infants appear normal at birth but later develop poor head control, general weakness, enlarged head size, developmental delays, and seizures.
There is currently no treatment for Canavan disease.
An estimated 1 in 40 Ashkenazi Jews is a carrier of Canavan disease. Screening will detect about 97% of carriers.
More information on Canavan disease from the Mount Sinai School of Medicine