Tay-Sachs disease (TSD) is a genetic disorder. It occurs when a fatty substance builds up in the brain. This causes progressive destruction of the brain. There are three forms:
Given the best of care, all children with the infantile form die by the age of five.
TSD is caused by the absence of an enzyme. This enzyme is needed to break down a fatty substance called ganglioside (GM2). As a result, GM2 builds up. The build up in the brain causes damage.
TSD occurs when both parents pass on the faulty genes. A person can have just one copy of the faulty gene. In this case, there are no symptoms. The person is called a carrier.
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Factors that increase your chance for TSD include:
Babies with TSD may seem to develop normally until about 4-5 months of age when symptoms begin to occur. Symptoms may include:
In some cases, the symptoms do not begin until age 2-5 years old. The condition progresses slowly, but most children with Tay-Sachs disease do not live beyond age 15 years. Symptoms may include:
The doctor will ask about your child's symptoms and medical history. A physical exam will be done. The doctor may examine your child's eyes to look for a cherry red spot on the retina.
Your child's bodily fluids may be tested. This can be done with blood tests.
There is presently no treatment for TSD. Treatment is aimed at managing symptoms.
There are no known ways to prevent Tay-Sachs disease. If you are a carrier of the gene that causes TSD, you can talk to a genetic counselor before deciding to have children. Prenatal testing during the first trimester is available.
National Tay-Sachs & Allied Diseases
About Kids Health
Caring for Kids
The Canadian Paediatric Society
Filho JAF, Shapiro BE. Tay-Sachs disease. Arch Neurol. 2004; 61:1466-1468.
Tay-Sachs disease. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us. Updated January 16, 2012. Accessed August 9, 2013.
Tay-Sachs disease information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm. Updated October 6, 2011. Accessed August 9, 2013.
Last reviewed August 2013 by Kari Kassir, MD; Michael Woods, MD
Last Updated: 5/11/2013