What are the Symptoms of
Tay-Sach's Diesease?
Most babies with classic Tay-Sachs Disease are born happy and seemingly healthy. There is typically no indication of any signs of illness. The first 6 to 9 months of life have all of the typical ups and downs familiar to most parents: Read More
How is the Disease transimitted?
Who is at risk?
Only through heredity. A Tay-Sachs carrier has one normal gene for production of the Hex-A enzyme and one Tay-Sachs gene. The carrier does not have the illness and leads a normal..Read More
Is there a treatment for Tay-Sachs?
Tragically, there is no cure, and no treatment that will prevent the disease from running its course. Affected children can only be made as comfortable as possible. However, over the past several years, there has been a great deal of interest in the utility of Stem Cell Transplantation in infants with Tay-Sachs Disease.
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Can Tay-Sach's be diagnosed
before birth?
Yes. Prenatal tests called amniocentesis and chorionic villus sampling (CVS) can diagnose Tay-Sachs before birth. If prenatal testing shows that Hex-A is present,
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Is there a “safe” way for a 2 carriers of the Tay-Sachs gene to have children?
Family planning approaches for carrier-couples now include pre-implantation genetic diagnosis, using in vitro fertilization (with genetic testing of the embryos, so that only healthy ones...Read More
Are there other forms of Tay-Sachs?
The classic infantile type of Tay-Sachs is the most common. However, there are other rare deficiencies of the Hex-A enzyme that sometimes are included under the name of Tay-Sachs disease. These often are referred to as juvenile, chronic and adult-onset forms of Hex-A deficiency. Affected individuals have low levels of...Read More
About Tay-Sachs Disease
What is Tay-Sachs Disease?
Tay-Sachs is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme (known as Hex-A) necessary for fat metabolism in nerve cells. Without this enzyme, central nervous system degeneration ensues. Read More
About Carriers
A person can only be affected by Tay-Sachs Disease when two carrier parents pass a Hex-A gene mutation to their child. When two-carrier parents have children, three outcomes are possible. Read More