Tay-Sachs disease is a life-threatening disease of the nervous system passed down through families.
Causes, incidence, and risk factors
Tay-Sachs disease occurs when the body lacks hexosaminidase A, a protein that helps break down a chemical found in nerve tissue called gangliosides. Without this protein, gangliosides, particularly ganglioside GM2, build up in cells, especially nerve cells in the brain.
Tay-Sachs disease is caused by a defective gene on
Anyone can be a carrier of Tay-Sachs, but the disease is most common among the Ashkenazi Jewish population. About 1 in every 27 members of the Ashkenazi Jewish population carries the Tay-Sachs gene.
Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the symptoms and when they first appear. Most people with Tay-Sachs have the infantile form. In this form, the nerve damage usually begins while the baby is still in the womb. Symptoms usually appear when the child is 3 to 6 months old. The disease tends to get worse very quickly, and the child usually dies by age 4 or 5.
Late-onset Tay-Sachs disease, which affects adults, is very rare.
- Decreased eye contact,
blindness Decreased muscle tone(loss of muscle strength)
- Delayed mental and social skills
- Increased startle reaction
- Loss of motor skills
Paralysisor loss of muscle function Seizures
- Slow growth
Signs and tests
The doctor or nurse will examine the baby and ask questions about your family history. Tests that may be done are:
Enzymeexam of blood or body tissue for hexosaminidase levels
- Eye exam (reveals a cherry-red spot in the
There is no treatment for Tay-Sachs disease itself, only ways to make the patient more comfortable.
The stress of illness may be eased by joining support groups whose members share common experiences and problems. See
Children with this disease have symptoms that get worse over time. They usually die by age 4 or 5.
Symptoms appear during the first 3 to 10 months of life and progress to
Calling your health care provider
Go to the emergency room or call the local emergency number (such as 911) if your child has a seizure of unknown cause, if the seizure is different from previous seizures, if the child has
Call for an appointment with your health care provider if your child experiences a seizure lasting less than 2 – 3 minutes or has other noticeable behavioral changes.
There is no known way to prevent this disorder. Genetic testing can detect if you are a carrier of the gene for this disorder. If you or your partner are from an at-risk population, it is recommended that you undergo testing before starting a family. Testing the amniotic fluid can diagnose Tay-Sachs disease in the womb.