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What is Tay-Sachs disease?

Tay-Sachs disease progressively destroys nerve cells and can't be cured. But a baby can get it only if both parents carry a mutated gene. 

Tay-Sachs disease is a fatal genetic disorder that affects the brain.

Named for the two doctors who discovered it, the disease results when large amounts of a fatty substance called ganglioside GM2 build up in the nerve cells in the brain, according to the National Institute of Neurological Disorders and Stroke (NINDS). This buildup happens because of a gene mutation that interferes with an enzyme called hexosaminidase A (HEX-A).

Tay-Sachs is passed from parents to children only when both parents carry the mutated gene. When both parents are carriers, there is a 25% chance they will have a child who has Tay-Sachs, according to NINDS.

In most cases, Tay-Sachs disease begins early in pregnancy, according to the National Tay-Sachs and Allied Diseases Association (NTSAD). A child born with the disease will develop normally for the first few months. But symptoms will appear as the disease starts affecting nerve cells.

According to NINDS, Tay-Sachs disease may cause:

  • A cherry red spot in the back of the eyes.
  • Blindness.
  • Deafness.
  • Problems swallowing.
  • Paralysis.

In rare cases, the disease may affect people in their 20s or 30s. For them, it may cause an unsteady gait and a progressive neurological decline, according to NINDS.

There is no way to treat Tay-Sachs disease, and most children who have it die by age 4, according to NINDS. However, testing can identify people who are carriers of the disease before they have a child.

Tay-Sachs disease is particularly common in people of Eastern European and Ashkenazi Jewish heritage, according to NINDS. But the disease can affect people of all backgrounds.

If you or your partner is at high risk for Tay-Sachs disease, talk to your doctor about whether you should be tested.

reviewed 10/8/2019

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