Tay-Sachs Disease

Topic Overview

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 nerve cells of the brain and cause damage.

There are two forms of Tay-Sachs:

  • The most common form develops soon after a baby is born. It causes death early in childhood.
  • Late-onset Tay-Sachs can start between puberty and the mid-30s. How long a person lives depends on how severe the symptoms are. People may live as long as someone who doesn't have Tay-Sachs disease. Late-onset Tay-Sachs is very rare.

What causes Tay-Sachs disease?

Tay-Sachs can occur when parents pass on a changed gene to their child.

  • If a baby gets the changed gene from both parents, he or she will get the disease.
  • If the baby gets the changed gene from only one parent, he or she will be a carrier. This means that the child will have one gene that produces hex A and one that doesn't. The child's body makes enough hex A so that he or she doesn't get the disease. But the child can pass the changed gene on to his or her children.

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.

The changed gene that causes Tay-Sachs disease is more commonly found in people of Ashkenazi Jewish descent. 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 than others to carry the changed gene.

What are the symptoms?

A child with Tay-Sachs disease looks healthy at birth. But when the child is:

  • 3 to 6 months of age, you may notice that the child makes less eye contact and has a hard time focusing his or her eyes on things. A doctor may see a red spot on the child's retina.
  • 6 to 10 months of age, you may notice that the child is not as alert and playful as he or she had been. It might be hard for the child to sit up or roll over. You also may notice that the child does not see or hear well.
  • 10 months and older, the disease gets worse quickly. The child may have seizures, have an intellectual disability, lose his or her vision, and not be able to move.

Children with Tay-Sachs rarely live beyond 4 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:

  • Your concerns and the help you'll need for your child.
  • A support group in your area.
  • Family counseling to help each member cope with the disease.

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

  • Both you and your partner get a screening test if you are both of Ashkenazi Jewish, French-Canadian, or Cajun descent or have a family history of the disease. If both of you test positive as carriers, genetic counseling may help you with making choices.
  • You or your partner get a screening test if either of you is of Ashkenazi Jewish, French-Canadian, or Cajun descent or has a family history of the disease. If one of you tests positive for being a carrier, the other partner should be tested.

Carriers of the Tay-Sachs gene changes can pass the changed 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.

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Other Places To Get Help

Organizations

National Institute of Neurological Disorders and Stroke
NIH Neurological Institute
P.O. Box 5801
Bethesda, MD 20824
Phone: 1-800-352-9424
Phone: (301) 496-5751
Web Address: www.ninds.nih.gov
 

The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health, is the leading U.S. federal government agency supporting research on brain and nervous system disorders. It provides the public with educational materials and information about these disorders.


Chicago Center for Jewish Genetic Disorders
Ben Gurion Way, 30 South Wells Street
Chicago, IL  60606
United States
Phone: 312-357-4718
Email: jewishgeneticsctr@juf.org
Web Address: www.jewishgeneticscenter.org
 

This organization provides public and professional education about Jewish genetic disorders. It also promotes screening and prevention programs, information, and referrals.


KidsHealth for Parents, Children, and Teens
Nemours Home Office
10140 Centurion Parkway
Jacksonville, FL 32256
Phone: (904) 697-4100
Web Address: www.kidshealth.org
 

This website is sponsored by the Nemours Foundation. It has a wide range of information about children's health—from allergies and diseases to normal growth and development (birth to adolescence). This website offers separate areas for kids, teens, and parents, each providing age-appropriate information that the child or parent can understand. You can sign up to get weekly emails about your area of interest.


March of Dimes
1275 Mamaroneck Avenue
White Plains, NY  10605
Phone: (914) 997-4488
Web Address: www.marchofdimes.com
 

The March of Dimes tries to improve the health of babies by preventing birth defects, premature birth, and early death. March of Dimes supports research, community services, education, and advocacy to save babies' lives. The organization's website has information on premature birth, birth defects, birth defects testing, pregnancy, and prenatal care.


National Tay-Sachs and Allied Diseases Association, Inc. (NTSAD)
2001 Beacon Street
Suite 204
Boston, MA  02135
Phone: 1-800-906-8723
Fax: (617) 277-0134
Email: info@ntsad.org
Web Address: www.ntsad.org
 

NTSAD is a nonprofit, volunteer health agency devoted to the treatment and prevention of Tay-Sachs and other genetic conditions. Its Web site has information about genetic diseases, carrier testing, genetic counseling, and more. NTSAD has a support group for families and individuals affected by genetic diseases.


Web Address: www.ghr.nlm.nih.gov

References

Citations

  1. Committee on Genetics, American College of Obstetricians and Gynecologists (2009). Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstetrics and Gynecology, 114(4): 950–953.
  2. Committee on Genetics, American College of Obstetricians and Gynecologists (2005, reaffirmed 2010). Screening for Tay-Sachs disease. Obstetrics and Gynecology, 106(4): 893–894.

Other Works Consulted

  • Haslam RHA (2006). Degenerative diseases of the central nervous system. In FD Burg et al., eds., Current Pediatric Therapy, 18th ed., pp. 388–392. Philadelphia: Saunders Elsevier.
  • Neudorfer O, Kolodny EH (2004). Late-onset Tay-Sachs disease. Israel Medical Association Journal, 6: 107–111.
  • Ropper AH, Samuels MA (2009). Inherited metabolic diseases of the nervous system. In Adams and Victor's Principles of Neurology, 9th ed., pp. 904–959. New York: McGraw-Hill.

Credits

By Healthwise Staff
Primary Medical Reviewer Sarah Marshall, MD - Family Medicine
Specialist Medical Reviewer Siobhan M. Dolan, MD, MPH - Reproductive Genetics
Last Revised June 20, 2013

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

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