Topic > Tay-sachs disease - 692

Tay-sachs disease Tay-sachs disease is perhaps a very dramatic disease because it affects young children and newborns more acutely. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as GM2 ganglioside, build up in nerve cells in the brain. Newborns with Tay-Sachs disease, who are not carriers, appear to develop normally for the first few months after birth, but as nerve cells swell with fatty material, a severe decline in mental and physical abilities occurs. The child then becomes deaf, blind and unable to swallow. Soon the muscles begin to deteriorate and paralysis sets in. Eventually, the child will die. The first recorded case of Tay-sachs disease was described by Warren Tay, a British ophthalmologist, in 1881. In 1887, the American neurologist Barnard Sachs, described the neurology of Tay-sachs disease. Because these two men made such important and early contributions to Tay-sachs disease, the disease was named after them. Tay-sachs has infected millions of people since its discovery. The groups most commonly affected by Tay-sachs are Central and Eastern European Jews, some French Canadians, the Irish, and some Cajun groups. The general ratio of TSD carriers is 1:250, or 0.4%. Tay-Sachs is a recessive disease, it is transmitted through genes in the same way that eye color is passed from parent to child. Although it is an inherited condition, most families are not aware that they carry the genes for a disease until an affected child is born. Children affected by Tay-Sachs are in most cases born to parents with no family history of the disease. A recessive condition like Tay-Sachs results... middle of paper... I can protect their families from this disease. A blood test can distinguish Tay-Sachs carriers from non-carriers. Blood samples can be analyzed using an enzymatic 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 body fluids and cells than non-carriers, but children with Tay-Sachs disease have a complete absence of Hex-A in their cells. The biochemical test can detect all Tay-Sachs carriers of all ethnic origins. While there is no cure for PTSD, there are several treatment methods for the disease, which gives hope to those who are carriers, but would like to bring a family into the world. Hopefully, further studies and research on Tay-Sachs will one day lead to a cure and that TSD will no longer be a fatal factor for children and will bring hope to their parents..