Canavan disease (Q87886)

Canavan's disease or spongy degeneration of the central nervous system or aspartoacylase deficiency is an autosomal recessive neurological degeneration characterised by axial hypotonia and macrocephaly appear between the 2nd and 4th months in infantile forms, later on in the juvenile form. Neurological degeneration continues with spasticity, opisthotonos, loss of contact with the outer world, sleep disorders, blindness, and convulsions.