Tay-Sachs disease (TSD) is a fatal genetic disorder. It occurs 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 GM2 (ganglioside). As a result, GM2 builds up. The build up in the brain causes damage.
TSD occurs when both parent 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. There is then an arrest of development. 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 doctor may also order:
March of Dimes Birth Defects Foundation
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.
Matalon R, Michals-Matalon K, Schiffmann R. GM2 gangliosidoses. MedLink website. Available at: http://www.medlink.com . Accessed September 30, 2011.
National Tay-Sachs & Allied Diseases Association, Inc. website. Available at: http://www.ntsad.org .
Nelson Textbook of Pediatrics . 18th ed. WB Saunders; 2007.
Tay-Sachs disease. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/ . Updated July 20, 2011. Accessed September 30, 2011.
Tay-Sachs disease information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm . Accessed September 30, 2011.
Last reviewed November 2012 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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