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Information about Tay-Sachs
Tay-Sachs
is a hereditary disease. A mutation in a gene causes the body to
have no or very low levels of the Hex-A enzyme. Now without that
enzyme, cells (especially nerve cells in the brain) are unable
to break down fatty waste products. The waste products begin to
build up inside the cells causing it to swell and eventually
die.
There
are between 75 and 100 different mutations that can cause TSD.
There are 3 basic types of Tay-Sachs: Infantile (which is the
most common), Juvenile or Late On-Set. The Infantile and
Juvenile forms of the disease have never been treatable and have
always resulted in death. The Late On-Set form works at a slower
pace, but continues to progress as cells clog with waste
product.
The
pace of the disease is directly related to the amount of Hex-A
the person has. Infantile cases generally have no Hex-A present
and therefore the disease progresses very quickly – often
resulting in death by age 3.
The
groups most at risk are eastern Europeans of (Ashkenazi) Jewish
decent, French Canadian living near the St. Lawrence River and
Louisiana Cajuns. In these populations statistics show that one
in every 27 people carried a Tay-Sachs gene mutation. The next
highest at risk population is people of Irish-American decent.
The carrier rate in that population is one in 50 people carry
the Tay-Sachs gene. And finally for everyone in the general
population studies have shown there is a one in 250 chance that
you carry the Tay-Sachs gene.
Carrier
Statistics
1 in 27 Ashkenazi,
Jews, French Canadians, or Louisiana Cajuns...
1 in 50
Irish-Americans...
1 in 250 in the
general population...
Carries the Tay-Sachs
Gene!
For More
Information on Tay Sachs please visit our page
What is Tay Sachs
Disease |
