What is Tay-Sachs disease?
Tay-Sachs is a rare disease that is passed down through some families. A person with Tay-Sachs has changed (mutated) genes that don't make any or enough of an enzyme called hexosaminidase A (hex A). Hex A breaks down fatty compounds. Without it, fatty compounds build up in the brain and nerve cells and cause damage.
There are two forms of Tay-Sachs:
What causes Tay-Sachs disease?
Tay-Sachs can occur when parents pass on a changed gene to their child.
In late-onset Tay-Sachs (LOTS), the body makes a small amount of hex A. People with LOTS inherit the late-onset hex A gene change from one or both parents.
People of Ashkenazi Jewish descent are most likely to have the changed gene. About 1 out of 30 people in this population is a carrier of the disease.1 People of French-Canadian descent from the East Saint Lawrence River Valley of Quebec and people of Cajun descent in Louisiana are also more likely to carry the changed gene than others.
What are the symptoms?
A child with Tay-Sachs disease looks healthy at birth. But when your child is:
Children with Tay-Sachs rarely live beyond 4 or 5 years of age.
In late-onset Tay-Sachs (LOTS), early symptoms such as clumsiness or mood changes may be minor or seem "normal" and go unnoticed. Later symptoms may include muscle weakness and twitching, slurred speech, and trouble thinking and reasoning. The symptoms depend on how much hex A the body makes.
How is Tay-Sachs disease diagnosed?
If you or your doctor thinks that your child has Tay-Sachs disease, your doctor will do a physical exam and a blood test to check the level of hex A. A genetic test may be needed to be sure the disease is Tay-Sachs.
How is it treated?
The focus of treatment for Tay-Sachs disease is to control symptoms and make your child as comfortable as possible. There is no cure. It may be helpful to seek counseling or find support from others who are going through the same thing you are.
If you have late-onset Tay-Sachs disease (LOTS), treatment also focuses on controlling symptoms. The treatment you receive, such as medicine for depression, depends on the symptoms you have.
It may be overwhelming to learn that your child has Tay-Sachs. It's important that you care for yourself as well as your child. Talk to your doctor about:
As the disease gets worse, your child will need more care. Encourage your child to be as active as possible for as long as possible. Give your child your love and affection.
You may not be able to care for your child without help. Talk with your doctor about groups that can help you.
Should you get tested?
If you are thinking about having a child, the American College of Obstetricians and Gynecologists (ACOG) recommends that:2
Carriers of Tay-Sachs disease can pass the gene to their children even if the carriers don't have the disease. If both you and your partner are carriers, there is a 1-out-of-4 chance (25%) that any child you have will have Tay-Sachs disease.
eMedicineHealth Medical Reference from Healthwise
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