Tay-Sachs Disease JOHN-MICHAEL SADLEIR AP BIOLOGY - 2ND FEBRUARY 26, 2015

Tay-Sachs disease is an extremely rare genetic disease that literally destroys the whole nervous system. In 1881, Warren Tay discovered symptoms for the disease, and Bernard Sachs wrote about the disease in Tay- Sachs disease causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around six months of age and usually results in death by the age of four.

Both Tay and Sachs reported their first cases among Jewish families. Tay reported his observations in 1881, and by 1884, he had seen three cases in a single family. Sachs, who recognized that the disease had a familial basis, proposed that the disease should be called amaurotic familial idiocy. However, its genetic basis was still poorly understood. The first edition of the Jewish Encyclopedia, published in 12 volumes between 1901 and 1906, described what was then known about the disease. It is a curious fact that amaurotic familial idiocy, a rare and fatal disease of children, occurs mostly among Jews; ; but recently there have been reported cases occurring in non- Jewish children.

When both parents are carriers, their child has a one-in-four chance of having the Tay-Sachs disease.

Symptoms of Infantile Tay-Sachs include: deafness blindness decreased muscle tone increased startle response paralysis or loss of muscle function seizures delayed mental and social development

Other Signs and Symptoms JUVENILE TAY-SACHS DISEASE Juvenile Tay–Sachs disease is rarer than other forms of Tay–Sachs, and is usually seen in children between two and ten years old. People with Tay–Sachs disease develop cognitive and motor skill deterioration. Death usually occurs between the age of five to fifteen years. ADULT/LATE-ONSET TAY-SACHS DISEASE Adult-Onset or Late-Onset Tay–Sachs disease usually has its first symptoms during the 30s or 40s years of age. Late-onset Tay–Sachs disease is usually not fatal as the effects can stop progressing, and it is frequently misdiagnosed. Symptoms of late-onset Tay–Sachs include speech and swallowing difficulties, unsteadiness of gait, and psychiatric illness. People with late-onset Tay–Sachs may become full- time wheelchair users in adulthood.