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What is Tay-Sachs Disease?

March 06, 2021
We don't hear too much in the media about the rare Tay-Sachs disease. That’s because the victims of this dreaded condition usually die in childhood or their early-to-mid teens.

Tay-Sachs is a metabolic disorder inherited from a gene both parents carry. This insidious disease typically strikes extremely young children of certain ethnic backgrounds or regions, progressively destroying brain and spinal cord cells. Eventually, the disease is fatal.

Who Gets Tay-Sachs Disease?

Ashkenazi Jews, mostly from the Eastern and Central parts of Europe, are the most common victims of Tay-Sachs disease. This is believed to be because of a rare genetic mutation present in that population.

Other groups that seem to acquire the disease mutations include French-Canadians from the province of Quebec. Old Order Amish people in Pennsylvania and the Cajun people of Louisiana. Tay-Sachs is a birth defect that can be detected with a blood test, so it is wise to have both parents tested as part of family planning.

Researchers believe that mutations in the HEXA gene are largely responsible for acquiring it.

The Signs of Tay-Sachs

Tay-Sachs disease symptoms appear early in childhood. Children who acquire it start to show symptoms at three months to six months, as the muscles that are used to turn over, crawl and sit are affected, making such actions difficult to impossible for the afflicted. Children with Tay-Sachs also startle in an exaggerated manner when confronted with loud noises. This is because Tay-Sachs destroys the enzymes that work to clear growths in the brain and spinal cord, inhibiting the children in physical and mental capacities.