Canavan disease is a progressive neurological disorder that destroys the myelin sheath, which insulates nerve cells in the brain.
This impairs the ability of nerve cells to communicate with other cells of the body. Symptoms include progressive muscle weakness, developmental delay, and intellectual and physical disability that starts from infancy. Canavan disease is also associated with seizures, sleep disturbances, and blindness, and can range from mild to severe.
This condition is caused by pathogenic (disease-causing) variants in the ASPA gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 57 chance to be a carrier. Carriers typically do not experience any symptoms.
Other names for this condition include ASPA deficiency, aspartoacylase deficiency, and Canavan’s leukodystrophy.
Resources:
Genetic and Rare Diseases Information Center (GARD)
Revised September 2023
