Canavan disease is a progressive, fatal, genetic disorder affecting the central nervous system, muscles, and eyes. Early symptoms in infancy may include increased head size, weakness, low muscle tone and loss of head control.

For a person with a rare disease, receiving an accurate diagnosis may take several years. Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis.

Canavan disease Other Names: ACY2 deficiency; Aminoacylase 2 deficiency; Aspartoacylase deficiency; Spongy degeneration of the brain ACY2 deficiency; Aminoacylase 2 deficiency; Aspartoacylase deficiency; Spongy degeneration of the brain

The leukodystrophies are a group of disorders caused by spelling mistakes in the genes involved in making myelin. Specific leukodystrophies include metachromatic Leukodystrophy, Krabbe Leukodystrophy, X-linked adrenoLeukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease.