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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:
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.
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.
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.
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: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.
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Learning about Tay-Sachs disease:
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.
This organization provides public and professional education about Jewish genetic disorders. It also promotes screening and prevention programs, information, and referrals.
The Genetics Home Reference provides information on hundreds of genetic conditions. The website has many tools for learning about human genetics and the way genetic changes can cause disease. It also has links to additional resources for people who have genetic conditions and for their families.
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.
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.
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.
CitationsCommittee 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.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 ConsultedHaslam 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 early childhood section of Inherited metabolic diseases of the nervous system. In Adams and Victor's Principles of Neurology, 9th ed., pp. 922–926. New York: McGraw-Hill.
Last Revised: September 6, 2011
Author: Healthwise Staff
Medical Review: Sarah Marshall, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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