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Tay Sachs Disease

What is Tay-Sachs disease?

Tay-Sachs disease is a rare inherited disease. The most common form of this disease starts in infancy. Babies with this disease are born without an enzyme called Hexosaminidase A, or Hex A. This causes fatty proteins to build up and damage the baby's ability to see, hear, move, and develop.

Other forms of Tay-Sachs disease are very rare, and not as severe as the infantile form. Symptoms can appear in childhood, adolescence, or adulthood.

There is no cure for Tay-Sachs disease.

What is the cause?

A baby can only have Tay-Sachs disease if both parents carry the gene that causes the disease. This gene is most common among certain ethnic groups, such as Ashkenazi Jews, French-Canadians, and Cajuns.

What are the symptoms?

A baby born with Tay-Sachs develops normally for the first 3 to 6 months. After the first few months, the baby starts to lose the ability to see, hear, and move. The child will stop smiling, crawling, turning over, and reaching out for things. An eye exam can be done to check for a cherry-red spot at the back of the child's eye. By the age of 2, the child may have seizures and become blind, deaf, and paralyzed. Death usually occurs by the time the child is 5 years old.

How is it diagnosed?

Tay-Sachs disease is diagnosed through a blood test to check the level of Hex-A. A follow-up DNA test may be recommended.

Couples in the ethnic groups at risk for the disease can get screened for the Tay-Sachs gene with a simple blood test. Pregnant mothers can have their unborn babies screened for a lack of the enzyme that causes the disease. This can be done with chorionic villus sampling, or CVS, in which a small sample of the placenta is drawn into a needle or a small tube for analysis. A pregnant woman can also have amniocentesis, in which a needle is inserted into the mother's belly to draw a sample of amniotic fluid.

How is it treated?

Medical care can help to relieve pain, manage seizures, and control other symptoms. There is no treatment that keeps the disease from getting worse.

In many cases, families are unable to care for a child with Tay-Sachs disease without help. In some cases, home healthcare may allow you to keep your child at home. In other cases, the best choice for your child may be a supervised living facility. Family counseling may help your family cope with your child's disorder.

For more information, contact the National Tay-Sachs & Allied Diseases Association at http://www.ntsad.org/index.php/tay-sachs or call 800-906-8723.

Developed by RelayHealth.
Pediatric Advisor 2013.2 published by RelayHealth.
Last modified: 2011-10-24
Last reviewed: 2011-10-24
This content is reviewed periodically and is subject to change as new health information becomes available. The information is intended to inform and educate and is not a replacement for medical evaluation, advice, diagnosis or treatment by a healthcare professional.
© 2013 RelayHealth and/or its affiliates. All rights reserved.
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