Canavan disease (Q87886): Difference between revisions

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Latest revision as of 13:55, 15 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1576870846
English	Canavan disease	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.