Tay-Sachs Disease

Tay-Sachs Disease is an autosomal recessive neurodegenerative disorder that is typically fatal within the first two or three years of life. Its incidence is highest among Ashkenazi Jews (Jews of Eastern European descent), approximately 100 times higher than in the general population. Juvenile and adult onset variants of the disease exist, but are extremely rare and will not be discussed here. The disease was characterized by two doctors working independently, resulting in its hyphenated name; a British physician named Warren Tay, and an American physician named Bernard Sachs. Tay, an ophthalmologist was, in 1881, the first to notice the characteristic red spot on the eye that is now considered a typical finding in the disease. Sachs, researching independently from Tay, began to characterize this syndrome, noting its familial characteristics and propensity to appear in Jewish children. In addition to the ophthalmologic findings made by Tay, Sachs, in 1887, characterized the disease as involving a halt to mental development, a deficiency in normal reflexes, progressive blindness, paresis, and mortality at about two years of age.