Tay-Sachs Disease

What is Tay-Sachs disease?

Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells in the brain and in the spinal cord. This single cell mutation is caused when large amounts of Gangliosid build up in the tissues and in the nerve cells of the brain and spinal cord.

Who discovered Tay-Sachs?

This disease was partly named after Warren Tay, a British optamologist who in 1881 discovered a patient of his to have "cherry red" spots in the retna of their eye. This disease is also named for Bernard Sachs, a New York nerologist. Bernard said most cases were infant of eastern European/Jewish heritage

Does Tay-Sachs have an Impact on ones life expectancy?

yes, if a infant is born with Tay-Sachs this child will usually die within the first five years.

What are the symptoms of a child with Tay-Sachs?

Children with Tay-Sachs appear to be normal for their fist few months of life. Later the child will soon develop blindness, become deaf, and is unable to swallow. Their mucles begin st stiffen or paralize and seizures begin to occur frequently. Also people with Tay-sachs have what appears to be "cherry red" spots on their eye
Big image

How is Tay-Sachs inherited?

To get Tay-Sachs both parents must carry the mutated gene. There is a 25% or 1/250 chance with each pregnancy that a child will be affected with the disease. Tay-Sachs is high among people of Eastern European and Askhenazi Jewish decent with the rate being 1/27 chance at getting Tay-Sachs.

What are some test that you can get to determine if you have this disease?

To tell if a child has Tay-Sachs or not a simple blood test can be done to measure the amount of Beta Hexosamindase.
Big image

Is there any way to prevent this disease?

Tay-Sachs is a non-curable disease. Anticonvolsove medicine is needed and recommended to prevent seizures. feeding tubes are also needed to help the child survive.

Are there an organizations to help families/individuals with this disease?