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Tay-Sachs is a rare disease that is passed down through some families. A person with Tay-Sachs has gene changes that prevent the body from making any or enough of an enzyme called hexosaminidase A (Hex A). This enzyme breaks down fatty compounds. Without it, fatty compounds build up in the nerve cells of the brain and cause damage.
There are three forms of Tay-Sachs:
Tay-Sachs can occur when parents pass on a changed gene to their child.
The juvenile and late-onset forms of Tay-Sachs are also caused by a changed gene from both parents.
The changed gene that causes Tay-Sachs disease is more commonly found in people of Ashkenazi Jewish descent. About 3 out of 100 people in this population are carriers of the disease.footnote 1 People of French-Canadian descent or Cajun descent are also more likely to carry the changed gene.
Each form of Tay-Sachs disease has different symptoms.
With infantile Tay-Sachs, a baby looks healthy at birth. A doctor may see a red spot on the child's retina. But symptoms increase over time. By 6 months of age, babies start losing the ability to see, hear, and move. By 2 years of age, a child may have seizures and no longer respond to their surroundings.
Juvenile Tay-Sachs occurs in children 2 years of age or older. Symptoms progress more slowly than they do in infantile Tay-Sachs. A child may have seizures and may lose the ability to walk and communicate.
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 difficulty walking, slurred speech, or mental health problems. The symptoms depend on how much Hex A the body makes.
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 an enzyme called Hex A. A genetic test may be needed to be sure the disease is Tay-Sachs.
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.
If you are thinking about having a child, the American College of Obstetricians and Gynecologists (ACOG) recommends that:footnote 2
Carriers of the Tay-Sachs gene changes can pass the changed gene to their children even though 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.
CitationsKaback M, et al. (1993). Tay-Sachs disease––Carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA, 270(19): 2307–2315. Accessed June 17, 2021.American College of Obstetricians and Gynecologists (2017). Carrier screening for genetic conditions. Committee Opinion No. 691. Obstetrics and Gynecology, 129(3): e41-55. DOI: 10.1097/AOG.0000000000001952. Accessed April 18, 2017.
Current as of: April 3, 2023
Author: Healthwise StaffClinical Review Board: All Healthwise education is reviewed by a team that includes physicians, nurses, advanced practitioners, registered dieticians, and other healthcare professionals.
Current as of: April 3, 2023
Author: Healthwise Staff
Clinical Review Board: All Healthwise education is reviewed by a team that includes physicians, nurses, advanced practitioners, registered dieticians, and other healthcare professionals.
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