Tay-Sachs Disease

What is Tay-Sachs Disease?

Tay-Sachs is a fatal disease that is the result of a fatty substance that accumulates in the brain because of the absence of a specific enzyme. As the fatty substance collects in the brain it kills nerve cells and causes complications in the body, both physically and mentally.

This is an inherited disease and infants who are born with this condition will thrive normally until they are around three to six months of age and then the symptoms will begin to appear. A baby will be born with this disease only if both parents are carriers of the flawed gene. If only one parent has the gene malfunction, the baby will be born a carrier of the disease.

What are the Symptoms of Tay-Sachs Disease?

Once the symptoms appear, Tay-Sachs disease will quickly advance and it most often becomes fatal when the child is four to five years of age. The symptoms include continued vision problems that result in blindness, seizures, deafness, stiff muscles and paralysis.

An infant’s physical, social and mental growth will stall. Adults who have a mild type of this disease may also experience symptoms, such as speech difficulties, weakened muscles, problems with their memory, instability while walking and body tremors.

How is Tay-Sachs Disease Treated?

The diagnosis of this disease can be determined when the mother is ten to twelve weeks into her pregnancy with a chorionic villus sampling test. An amniocentesis procedure is often performed by collecting placenta cells by inserting a needle into the mother’s abdomen.

The treatment for infants or children with Tay-Sachs disease centers on making sure they are comfortable and by easing the symptoms. Those who have seizures will be prescribed anti-epileptic drugs. Physical therapy sessions can help those who have issues with weakened or stiff muscles. Many children will be required to have feeding tubes so they can get adequate nutrition.

 

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Last Reviewed:
October 11, 2016
Last Updated:
August 10, 2017
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