Jenna Hollenstein, MS, RD
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 3 forms:
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.
Having parents who are carriers of the TSD gene is the most common risk factor.
TSD is found in specific ethnic groups:
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. 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 also available.
National Tay-Sachs and Allied Diseases
About Kids Health—The Hospital for Sick Children
Caring for Kids—The Canadian Paediatric Society
Fernandes Filho JA, Shapiro BE. Tay-Sachs disease.
Arch Neurol. 2004;61(9):1466-1468.
Tay-Sachs disease. EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed. 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 June 2015 by Michael Woods, MD
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