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 Ca
There is no cure for TSD as of yet, but research on the disease and possible cures has been done throughout the world. TSD most often appears in families with no prior history of the disease. The TSD gene can be carried without being resolute through many generations. Today, safe and reliable carrier testing is available to identify Tay-Sachs carriers. Testing can identify carrier couples who are at risk for bearing a child with TSD,before a TSD positive child is born. With this information, couples can look into the various options that will let them 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. Tay-Sachs is an X-linked condition. An X-linked condition occurs when a person has a mutation in one of the genes on the X chromosome. X-linked conditions usually affect males more often and more severely than females, because females with a mutation in a gene on the X-chromosome usually have a non-mutated gene on their other X-chromosome, which can c
Some common words found in the essay are:
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