Canavan Disease

Signs and Symptoms

• increasing head circumference
• lack of head control
• reduced visual responsiveness
• abnormal muscles done as in stiffness or floppiness

Chromosome Affected

• Canavan disease is caused by disruptions or changes (mutations) to the aspartoacylase (ASPA) gene

How is it inherited

• Canavan disease is an autosomal recessive condition, which means two copies of an abnormal gene must be present for the condition itself to be present.

Percent Population

• . Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians.

Prognosis

• The prognosis for Canavan disease is poor. Death usually occurs before age 10, although some children may survive into their teens and twenties.