Tay-Sachs Disorder

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Tay-Sachs disease (TSD) is a fatal genetic disorder resulting in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A

“Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells.”

Tay-Sachs disease results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. The HexA gene is located on the long arm (q) of chromosome 15. Its location is 15q24.1, and its molecular location on chromosome 15 is base pairs 72, 343, 437 to 72, 376, 179.
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During the next months — or even years — the baby will progressively lose the ability to see, hear, and move. A red spot will develop in the back of the child's eyes. The child will stop smiling, crawling, turning over, and reaching out for things. By age 2, the child may have seizures and become completely disabled. Death usually occurs by the time the child is 5 years old.

In another, milder form of Tay-Sachs (called late-onset Tay-Sachs), the disease causes muscle weakness and slurred speech, but sight, hearing, and mental capabilities remain intact.

Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus sampling (CVS), in which a small sample of the placenta is drawn into a needle or a small tube for analysis.

Between the 15th and 18th weeks of pregnancy, a woman can have an amniocentesis to test for the Tay-Sachs gene. In this test, a needle is inserted into the mother's belly to draw a sample of the amniotic fluid that surrounds the fetus.

Each year, about 16 cases of Tay-Sachs are diagnosed in the United States. Although people of Ashkenazi Jewish heritage (of central and eastern European descent) are at the highest risk, people of French-Canadian/Cajun heritage and Irish heritage have also been found to have the Tay-Sachs
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