Canavan Disease

 

An inherited genetic disease, a type of leukodystrophy most common in Ashlenazi Jewish families.  It is a progressive disease in which the myelin (white matter of the brain) is affected.  This causes progressive delays or regression of mental and physical development.  One in forty Ashkenazi Jews are carriers, and both parents must be carriers to have a child with this disease. 

Symptoms include  Increasing head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness. Children with Canavan disease cannot crawl, walk, sit or talk. Over time they may suffer seizures, become paralyzed, developmentally delayed or blind and have trouble swallowing. Deafness may also result.

See leukodystrophy