Tay-Sachs Disease

Tay-Sachs disease is an inherited condition that usually causes death by the age of three or four.

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Symptoms

Tay-Sachs is marked by developmental problems that start early and gradually get worse. Symptoms include paralysis, mental confusion, blindness and red spots in the retina at the back of the eye.

Causes and Risk Factors

A recessive gene is at the root of this disorder. (When a gene is recessive, it means that a child must inherit the gene from both parents for the condition to develop.) The gene is more common in Jewish families of Eastern European heritage. Tay-Sachs patients lack a certain enzyme that causes problems in the brain. (An enzyme is a type of complex protein produced by the cells that helps start certain biological and chemical reactions inside the body.)

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Diagnosis

There is no cure for this condition. Before starting a family, it is important to seek genetic screening and counseling. The amniotic fluid that surrounds the baby in the womb can be tested before the baby is born to find out if the baby has inherited a pair of the gene that causes Tay-Sachs.

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Treatments

No specific treatment is currently known.