How is it Diagnosed?

One of the earliest signs of Canavan disease recognized by many parents is overall low muscle tone and lack of head control during infancy at around three to nine months. Other early signs include subtle changes, such as visual inattentiveness or an inability to perform motor tasks. Parents often experience months of worry and after many pediatrician and specialist visits receive the Canavan diagnosis. It is often made by a neurologist or geneticists and following the completion of a metabolic evaluation.

Enzymatic test

Children with Canavan disease have an elevated level of the chemical, n-acetylaspartic acid (NAA). This compound can be easily measured in the urine or blood. However, the enzyme test is not sensitive enough to detect carriers from non-carriers.

Genetic test

Canavan can also be diagnosed through analysis of DNA mutations in the gene coding for the aspartoacylase enzyme.