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. 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.
Factors that increase your chance for TSD include:
- Having parents who are carriers of the TSD gene
- Race: Eastern European (Ashkenazi) Jewish descent
- TSD is also frequently found in French Canadian and Cajun populations
Babies with TSD may seem to develop normally until about 4 to 5 months of age. There is then an arrest of development. Symptoms begin to occur. Symptoms may include:
- Floppy body position
- Shrill cry
- Decreased eye contact
- Increased startle reaction
- Loss of motor skills
- Enlarged head
- Vision loss or blindness
- Difficulty swallowing
- Slurred speech (juvenile-onset form)
Muscular difficulties, such as:
- Spastic muscles
- Weakness or paralysis
- Mental retardation
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:
- Blood test—to measure hexosaminidase A activity
March of Dimes Birth Defects Foundation
National Tay-Sachs & Allied Diseases
Caring for Kids, The Canadian Paediatric Society
Ontario March of Dimes
Filho JAF, Shapiro BE. Tay-Sachs disease. Arch Neurol . 2004; 61:1466-1468.
National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov .
National Tay-Sachs & Allied Diseases Association, Inc. website. Available at: http://www.ntsad.org .
Nelson Textbook of Pediatrics . 18th ed. WB Saunders; 2007.
Last reviewed January 2009 by ]]>Rosalyn Carson-DeWitt, 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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