Discovery, Symptoms and Treatment of the Tay-Sachs Disease

Discovery, Symptoms and Treatment of the Tay-Sachs Disease

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Category: Healthcare and Medicine Essay
Subcategory: Film and Movies
Words: 1509
Pages: 2

Tay-Sachs disease is named after Warren Tay and Bernard Sachs. In 1881, Tay, a British ophthalmologist, described a patient with a cherry-red spot on the retina of the eye. Sachs, a New York neurologist, provided the first description of the cellular changes in Tay-Sachs disease several years later. He also observed that most babies with Tay-Sachs disease were of eastern European Jewish origin. Tay-Sachs disease is a fatal inherited disease of the central nervous system as a recessive gene. The central nervous system includes the brain, the coverings of the brain, and the spinal cord. The most common form of the disease affects babies. Babies with Tay-Sachs disease lack hexosaminidase A, an enzyme that is necessary for breaking down certain fatty substances in brain and nerve cells. These fatty acids then accumulate in the brain causing neurological deterioration. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. The destructive process begins in the fetus early in pregnancy. 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. Other symptoms include increasing loss of coordination, progressive inability to swallow and breathing difficulties. By the time a child with Tay-Sachs disease is three or four years old, the nervous system is so badly affected that life itself cannot be supported. Even with the best of care, all children with classical Tay-Sachs disease die around the age of 5. Tay-Sachs disease occurs most frequently in descendants of Central and Eastern European (Ashkenazi) Jews. 85 of Tay-Sachs disease victims are Jewish. Some non-Jewish individuals of French-Canadian ancestry and members of the Cajun population in Louisiana, are at similarly increased risk. These groups have about 100 times the rate of occurrence of other...

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