What is TaySachs Disease?
disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.The most common form of TaySachs disease becomes apparent in _________
. Infants with this disorder typically appear
normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with TaySachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. Children with this severe infantile form of TaySachs disease usually live only into early childhood. Other forms of TaySachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with lateonset forms of TaySachs disease.
What causes TaySachs?
Everyone have ____ copies of the TaySachs gene (________). TaySachs occurs when neither of a person’s HEX A genes is working properly because of a _____________(harmful change).
If a person has one working copy of the HEX A gene and the other copy has a mutation in it, he/she is called a “__________.” They do not show symptoms. Only two carriers who have children together are at risk for TaySachs disease.
How common is TaySachs?
Anyone can be a carrier of TaySachs, but the disease is most common among the ____________________________ population.
Other populations with as many carriers include: _______________________________ .
In the general population 1 in
people are carriers for Tay Sachs.
1 in every
IrishAmericans are carriers.
1 in every
Ashkenazi Jewish, French Canadians, & Cajuns are carriers. About ____ babies are born with TaySachs in the U.S every year.
How is TaySachs Diagnosed?
Couples who are considering having children can get screened for the TaySachs gene. If both the mother and father carry the TaySachs gene, an obstetrician/gynecologist may refer the couple to a genetic counselor for more information. 2) ______________________
Pregnant mothers can have their unborn babies tested for the Hex A deficit tha
t causes TaySachs disease. 3) ______________________ Is there a cure for TaySachs?
There is no cure for TaySachs disease itself, but treatments to make patients more comfortable.
Pattern of inheritance TaySachs disease is __________________________.
A child can only have TaySachs disease if both parents are carriers of the ________. When two carriers have a child together, there’s a: ___
% chance that their child will be a carrier, but not have the disease. ___
% chance that their child will not be a carrier and not have the disease. ___
% chance that their child will have the disease. Interesting Facts Rachaeli Fier, who died at ___ years old, is the_________