Tay Sachs Handout

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: _______________________________ .

Ratio/#infected
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?
1) ______________________
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. ­
_________________
Anticonvulsant

Proper ___________

Hydration techniques_________________

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_________