Tay-Sachs Disease

Healthy babies develop vision, movement, hearing, and other vital functions in part because enzymes clear out fatty protein and other unwanted material that can interfere with growth.

But a baby with Tay-Sachs disease is born without one of those important enzymes, hexosaminidase A (HEXA). So, as those fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development.

A child can only get Tay-Sachs by inheriting the gene for it from both parents. Tay-Sachs can be detected before birth, so couples who are thinking of having children may want to get a blood test to find out whether their child would be likely to have it.

Who Is at Risk for Tay-Sachs?

Each year, about 16 cases of Tay-Sachs are diagnosed in the United States. Although people of Ashkenazi Jewish heritage (of central and eastern European descent) are at the highest risk, people of French-Canadian/Cajun heritage and Irish heritage have also been found to have the Tay-Sachs gene.

Some people carry the genetic mutation that causes Tay-Sachs, but do not develop the full-blown disease.

A child can only have Tay-Sachs disease if both parents are carriers of the gene. When two carriers have a child together, there's a:

• 50% chance that their child will be a carrier, but not have the disease
• 25% chance that their child will not be a carrier and not have the disease
• 25% chance that their child will have the disease

Screening

Couples who are considering having children — or are already expecting — can get screened for the Tay-Sachs gene with a simple blood test. If both the mother and father carry the Tay-Sachs gene, an obstetrician/gynecologist may refer the couple to a genetic counselor for more information.

Prenatal Diagnosis

Pregnant women can have their unborn babies tested for the HEXA deficit that causes Tay-Sachs disease:

• If the tests do not detect HEXA, the infant will have Tay-Sachs disease.
• If the tests do detect HEXA, the infant will not have it.

Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus sampling (CVS), in which a small sample of the placenta is drawn into a needle or a small tube for analysis.

Between the 15th and 18th weeks of pregnancy, a woman can have an amniocentesis to test for the Tay-Sachs gene. In this test, a needle is inserted into the mother's belly to draw a sample of the amniotic fluid that surrounds the fetus.

Signs and Symptoms

Kids are usually tested for Tay-Sachs after having hearing, sight, and movement problems. A doctor can identify the disease with a physical exam and blood tests.

A baby born with Tay-Sachs develops normally in the first 3 to 6 months of life. During the next months — or even years — the baby will progressively lose the ability to see, hear, and move. A red spot will develop in the back of the child's eyes. The child will stop smiling, crawling, turning over, and reaching out for things. By age 2, the child may have seizures and become completely disabled. Death usually occurs by the time the child is 5 years old.

In rare forms of the disease, a child may have the HEXA enzyme, but not enough of it to prevent developmental problems. In one of these forms, called juvenile HEXA deficiency, those problems may not appear until the child is 2 to 5 years old. The disease progresses more slowly, but death usually occurs by the time the child is 15 years old.

In another, milder form of Tay-Sachs (called late-onset Tay-Sachs), the disease causes muscle weakness and slurred speech, but sight, hearing, and mental capabilities remain intact.

Helping a Child With Tay-Sachs

There is no cure for any form of Tay-Sachs disease. But doctors may be able to help a child cope with its symptoms by prescribing medicines to relieve pain, manage seizures, and control muscle spasticity.

Researchers are studying ways to improve treatment of and screening for Tay-Sachs disease.

If your child has been diagnosed with Tay-Sachs or both you and your partner are carriers of the gene, talk to your doctor or a genetic counselor about ongoing research. You also might seek support from a group such as the National Tay-Sachs and Allied Diseases Foundation or the March of Dimes Foundation.