What Is Tay-Sachs disease?

What Is Tay-Sachs disease?

Tay-Sachs disease is a fatal inherited disease of the central nervous system. The most common type of the disease affects babies. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. After this time, development slows and symptoms begin. Sadly, there is no effective treatment for these babies. Babies with Tay-Sachs lack an enzyme protein called hexosaminidase a hex A needed for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working. Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 5.

English: Cherry red spot as seen in Tay Sachs dise...

Location of HEXA gene on Human Chromosome 15

Neil Risch is the principal author of a study whic...

Who has a high risk of getting the disease?

Tay-Sachs disease occurs most frequently in descendants of Central and Eastern European Jews. One of every 30 American Jews carries the Tay-Sachs gene. Some non-Jewish individuals are at and increasing risk of getting the disease, especially the kids.

How is the disease transmitted?

Only through heredity information, which means you have to get it from your mother and father. A Tay-Sachs carrier has one normal gene for hex A and one Tay-Sachs gene. The carrier does not have the illness and leads a normal, healthy and full life. Which means when two carriers become parents. There is a one-in-four chance that any child they have will have the Tay-Sachs gene from each parent and have the disease. There is a one-in-four chance that the child will have the normal gene from each parent and be completely free...