Canavan Disease

In 1931 a genetic disorder was discovered; commonly known as Canavan Disease. This is an extremely rare disease and there have only been 30 reported cases in the United States. However, one in five thousand Ashkenazi Jews are diagnosed. Infants who are affected with Canavan Disease are most likely born with it. This disease is most common in children of the Jewish decent. A child who has Canavan Disease may experience a variety of symptoms including lack of head control, rapidly increasing head circumference, reduced visual responsiveness, abnormal muscle tone; such as stiffness or floppiness, and may suffer from mental retardation. At the molecular level, whats going on in is a genetic mutation on chromosome 17 that causes a deficiency of an enzyme called aspartoacylase. The chemical imbalance causes healthy tissue to degenerate. In order for a child to be affected they have to inherit one copy of the mutated gene from each parent. Basically, both parents need to be carriers of Canavan Disease for a child to be infected. Sadly, there is no cure for Canavan disease and the life span of infants infected with Canavan Disease does not generally last long. Most children diagnosed with the disorder will face death before the age of four. However, gene therapy is an option for children with Canavan Disease. In this procedure functional ASPA genes are introduced into a child's brain. Another procedure would be putting functional neuronal stem cells into an affected child's brain. The goal is to increase the levels of aspartoacylase. Doctors are still searching for treatment. Personally, I feel that this disease is very serious and we need to find a treatment to save many infants lives. This information is important to know because people need to be aware of different types of genetic disorders and get tested to see what they should look for when they have children.

I got my information from:
http://www.ninds.nih.gov/disorders.canavan/canavan.htm
http://www.medicinenet.com/canavan_disease/article.htm