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What are facts about Tay Sachs disease?

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.

Can Tay Sachs be treated?

There is no cure for Tay-Sachs. Treatment typically consists of keeping the child comfortable. This is called “palliative care.” Palliative care may include medication for pain, anti-epileptics to control seizures, physical therapy, feeding tubes, and respiratory care to reduce mucus buildup in the lungs.

What is Tay Sachs disease?

Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. . Infants with Tay-Sachs disease appear to develop normally for the first few months of life.


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