What is Tay-Sachs Disease? (GM2 Gangliosidosis)

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

What are the Symptoms of Tay-Sachs Disease? Once the symptoms appear, Tay-Sachs disease will quickly advance. 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. As well as 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, and problems with their memory. As well as instability while walking and body tremors.

What are the Causes of Tay-Sachs Disease? Tay-Sachs disease is caused by a genetic defect on chromosome 15, HEX-A. It prevents our bodies’ ability to create a protein called hexosaminidase A. It inhibits gangliosides chemicals from building up in our brain’s nerve cells. It's caused when the brain’s nerve cells are destroyed by these chemicals. Tay-Sachs is an autosomal recessive character, which means it's hereditary. It's a condition passed down to a child through defective genes in both parents. Which gives the child a 25% chance of developing Tay-Sachs disease. If only one of parent passes down the gene, the child will not be affected. However, they will be a carrier and may pass it down to their children. Most carriers are from Ashkenazi Jewish communities in Central & Eastern Europe.

How is Tay-Sachs Disease Treated? It can be diagnosed when the mother is 10 to 12 weeks into her pregnancy. The test that's used is called a chorionic villus sampling test. An amniocentesis procedure is often performed by collecting placenta cells. The cells are collected by inserting a needle into the mother’s abdomen. Treatment for infants and children centers on easing symptoms. Those who have seizures will be prescribed anti-epileptic drugs. Physical therapy sessions help those with weakened or stiff muscles. Many children will need feeding tubes so they can get adequate nutrition.

How is Tay-Sachs Disease Prevented? There is no way to prevent Tay-Sachs disease. However, you can get screened for the HEXA mutation prior to starting a family. The Tay-Sachs gene is carried in roughly 1 in 30 of the Ashkenazi Jewish people. While the gene is in approximately 1 in 300 for the rest of the population. Adoption is an alternative method for couples who do not wish to take a risk.

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[MrXxColexX]

literally felt like I was in outter space with that music in the background

[mwengwetinashazulu]

Thank you very much... The information was helpful 😍😍😍😍

[nadinegraham]

Me like dis, u just mek me life easy like 123

[chanabayla]

Please if you aren't Jewish please get tested to see if you're a carrier. We get tested almost automatically since this is a diease that predominantly hits us but anyone can get this however rare and it is fatal. Use jscreen. A simple cheek swab or blood test can determine this before getting pregnant