What is Tay-Sachs disease?
Q: What is Tay-Sachs disease?
A: Tay-Sachs disease is a genetic disorder that affects the metabolism of fat. It is caused by a lack of the enzyme Hexosaminidase A, and it is most common in Jewish families.
Q: How does one get Tay-Sachs disease?
A: To get Tay-Sachs disease, both parents must give the baby the defective gene for the baby to have Tay-Sachs. One in every twenty seven Jewish American has one defective gene and can give Tay-Sachs the defective gene to their child.
Q: What are some symptoms of Tay-Sachs disease?
A: Some symptoms include lack of energy, loss of vision and motor skills (paralyzation), seizures, an abnormally strong response to sudden noises or other stimulus (startle response), listlessness or muscle stiffness (hypertonia).
Q: When does this condition usually first appear?
A: The condition usually first appears in infants around six months old.
Q: Who discovered this disorder?
A: This disorder was first described by Warren Tay and Bernard Sachs in the late 19th century, and it was later discovered that it was caused by a lack of the enzyme Hexosaminidase A in 1969.
Q: Is there any treatment available for this condition?
A: Unfortunately, there is no known treatment for this condition at present.
Q: How many cases were reported during 1800’s compared to 21st century?
A: In the 1800’s there were 60 new cases reported while only 5 cases were reported during 21st century due to blood test which helps reduce number of babies born with tay sach's gene
