Tay-sachs Disease

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Tay-sachs Disease

Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain. Infants who with Tay-sachs disease, who are not carriers, appear to develop normally for the first few months since their birth, but as the nerve cells become swollen with the fatty material, a severe decline of mental and physical abilities occurs. The child then becomes deaf, blind, and unable to swallow.

Soon, muscles begin to decay and paralysis takes effect. Eventually, the infant will die.

The first recorded case of Tay-sachs disease was described by Warren Tay, a British opthalmalogist, in 1881. In 1887, the American neurologist Barnard Sachs,described the neurology of Tay-sachs disease. Because these two men made such important contributions, as well as the earliest, to Tay-sachs disease, the disease was named after them.

Tay-sachs has infected millions of people since its discovery. The most common groups affected by Tay-sachs are Eastern and Central European Jews,some French-Canadians, the Irish, and some groups of Cajuns. The general carrier ratio for TSD is 1:250, or 0.4%.

Tay-Sachs is a recessive disorder, it is transmitted through the genes in the same way as eye color is passed from parent to child. Even though it is an inherited condition, most families are not aware that they carry genes for a disease until the birth of an affected child. Children with Tay-Sachs are most often born to parents with no family history of the disease. A recessive condition like Tay-Sachs results ...

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...m protect their families from this disease.A blood test can distinguish Tay-Sachs carriers from non-carriers. Blood samples can be analyzed by either an enzyme test or DNA studies. The enzyme test is a biochemical test that measures the level of Hex-A in a person's blood. Carriers have less Hex-A in their body fluid and cells than non-carriers, but babies with Tay-Sachs disease have a complete absence of Hex-A in their cells. The biochemical test is able to detect all Tay-Sachs carriers of all ethnic backgrounds.

Although there is no cure for TSD, there are several revention methods for the disease, which gives hope to those who are carrier, but would like to bring a family into the world. Hopefully, further study and research of Tay-Sachs will lead to a cure one day, and TSD will no longer be a deadly factor for infants, and bring hope to their parents.

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