What is Tay-Sachs disease?
Tay-Sachs disease is a genetic disorder that leads to the premature death of young children.
What are the types of Tay-Sachs disease?
There are 2 main types of Tay-Sachs disease — the infantile form, which is far more common, and the late-onset form.
What are the symptoms of Tay-Sachs disease?
Babies with infantile Tay-Sachs disease appear healthy at birth. But by the time they are 6 months old, their development is slowing. They gradually lose power and movement in their limbs, and gradually lose their vision.
Over time the children regress in other ways, losing the power of speech and many other functions. Most children with infantile Tay-Sachs disease die before getting to school age.
For those with late-onset Tay-Sachs disease, things move more slowly. The early signs are usually things like clumsiness and muscle weakness.
What causes Tay-Sachs disease?
Tay-Sachs disease is caused by a deficiency in an enzyme that is needed for your brain to function properly. That deficiency is caused by a problem with the HEXA gene.
Tay-Sachs disease is an autosomal recessive disorder, which means that a child must inherit faulty HEXA genes from both parents to have Tay-Sachs disease. If both parents are carriers of faulty HEXA genes there is a:
- 1 in 4 chance that a child will be healthy and not a carrier
- 1 in 4 chance that a child will inherit Tay-Sachs disease
- 1 in 2 chance that a child will be healthy, but a carrier
If one parent is a carrier, there is 1 in 2 chance of a child also becoming a carrier.
Tay-Sachs disease is more common in Ashkenazi Jews, a group of people whose heritage is from central and eastern Europe.
Can I be screened for Tay-Sachs disease?
In Australia, there are genetics screening programs offered for high school students of Ashkenazi Jewish heritage, who have a one in 25 likelihood of being carrying a faulty HEXA gene.
The screening is not perfect and will pick up only the most common problems with the HEXA gene.
If your heritage puts you at risk of being a carrier of Tay-Sachs disease, talk to your doctor.
How is Tay-Sachs disease diagnosed?
Tay-Sachs disease may be diagnosed following a clinical examination or by performing biochemical and/or genetic testing on a blood sample.
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How is Tay-Sachs disease treated?
There is currently no cure or effective treatment for Tay-Sachs disease, though some treatments may ease symptoms.
Resources and support
It is best to talk to either your doctor or a genetic counsellor. To find a genetic counsellor, go to the Australian Society of Genetic Counsellors.
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Last reviewed: August 2018