by Cynthia M. Johnson, MA
Tay-Sachs disease (TSD) is a genetic disorder. It is when a fatty substance builds up in the brain. This causes progressive destruction of the brain. There are three forms:
TSD is caused by the absence of an enzyme. This enzyme is needed to break down a fatty substance called ganglioside (GM2). GM2 builds up without it. The buildup in the brain causes damage.
It happens 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 four to five months of age when symptoms begin to start. Babies may have:
In some cases, the symptoms do not begin until age 2-5 years old. The condition progresses slowly. Symptoms may include:
You will be asked about your child's symptoms and health history. A physical exam will be done.
Blood tests will be done.
Imaging tests may be done, such as:
TSD can’t be cured. Treatment is aimed at managing symptoms.
TSD can’t be prevented. If you are a carrier of the gene that causes TSD, you can talk to a genetic counselor before deciding to have children.
National Tay-Sachs and Allied Diseases Association, Inc.
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 Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T115899/Tay-Sachs-disease . Updated November 14, 2017. Accessed July 6, 2018.
NINDS Tay-Sachs disease information page. National Institute of Neurological Disorders and Stroke website. Available at:
...(Click grey area to select URL)
Accessed July 6, 2018.
Last reviewed May 2018 by Kari Kassir, MD
Last Updated: 7/6/2018
EBSCO Information Services is fully accredited by URAC. URAC is an independent, nonprofit health care accrediting organization dedicated to promoting health care quality through accreditation, certification and commendation.
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
To send comments or feedback to our Editorial Team regarding the content please email us at firstname.lastname@example.org. Our Health Library Support team will respond to your email request within 2 business days.