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.2 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
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
If you or your
doctor thinks that your child has Tay-Sachs disease, your doctor will do a physical
examination 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 counselling 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
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
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
are thinking about having a child, the Society of Obstetricians and
Gynaecologists (SOGC) recommends that:1
Other experts recommend testing if:3
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.
Health Tools help you make wise health decisions or take action to improve your health.
Learning about Tay-Sachs disease:
The Canadian Organization for Rare Disorders (CORD)
provides information on over 6,000 rare conditions. Through a network system,
CORD links together individuals and families with the same rare disorder.
Genetics Committee, Society of Obstetricians and Gynaecologists of Canada (2006). Carrier screening for
genetic disorders in individuals of Ashkenazi Jewish descent. Journal of Obstetrics and Gynaecology Canada, 177:
324–332. Also available online: http://www.sogc.org/guidelines/public/177E-CPG-April2006.pdf.
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.
Committee on Genetics, American College of
Obstetricians and Gynecologists (2005, reaffirmed 2010). Screening for
Tay-Sachs disease. Obstetrics and Gynecology, 106(4):
Other Works Consulted
Genetics Committee, Society of Obstetricians and Gynaecologists of Canada (2011). Genetic considerations for a woman's pre-conception evaluation. Journal of Obstetrics and Gynaecology Canada, 33(1): 57–64. Also available online: http://www.sogc.org/guidelines/documents/gui253CO1101E.pdf.
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
Neudorfer O, Kolodny EH (2004). Late-onset Tay-Sachs
disease. Israel Medical Association Journal, 6:
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.
November 7, 2011
Sarah Marshall, MD - Family Medicine
& Andrew Swan, MD, CCFP, FCFP - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
How this information was developed to help you make better health decisions.
To learn more visit Healthwise.org
© 1995-2014 Healthwise, Incorporated. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.
For 24/7 Health Advice call:
HEALTHLink Alberta1-866-408-5465 (LINK)
© 2014 Government of Alberta.