Tay-Sachs disease is a rare central nervous system disorder in which symptoms typically begin in infancy. This disease can be found throughout the world but is most prevalent in people of Ashkenazi Jewish heritage.

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Tay-Sachs disease is an inherited metabolic disorder that affects the central nervous system. Symptoms of the disease typically begin in early childhood, around the age of 6 months.

While this condition is rare, it does affect certain groups of people at a higher rate than others.

Here’s more about what causes Tay-Sachs disease, how common this disease is worldwide, and what the outlook is for people who have it.

Learn more about Tay-Sachs disease here.

Researchers say that around 1 in every 320,000 babies born in the United States has Tay-Sachs disease. The disease is most common among people of Ashkenazi Jewish descent. When looking specifically at individuals of Jewish descent within the United States, the rate of births affected by Tay-Sachs is around 1 in 3,500.

People may also be carriers of the disease. This means that they do not have the disease, but they carry the genetic information to pass it on to their children at conception.

In the United States, it’s estimated that around 1 in 250 people are carriers of Tay-Sachs. For Ashkenazi Jews, 1 in 29 people may be carriers.

Experts estimate that across the globe, around 1 in 200,000 babies are born with Tay-Sachs disease. However, as in the United States, Tay-Sachs is more common in certain countries or populations than others.

Tay-Sachs is a genetic disease that is inherited in an autosomal recessive manner. This means that a child must inherit two affected hexosaminidase-A genes — one from each parent — in order to develop the disease.

Tay-Sachs is observed in equal numbers regardless of sex. Your risk is higher if you have a family history of the disease, meaning the affected gene is somewhere in your bloodline.

In fact, the main risk factor for developing the disease is having biological parents who are both carriers. If two carriers have a child, there is a 1 in 4 chance the child will develop the disease and a 2 in 4 chance the child will be a carrier.

Here’s a breakdown of the inheritance scenarios:

  • Only one parent passes down the affected gene: The child will be a carrier.
  • Both parents pass down affected genes: The child will have Tay-Sachs.
  • Both parents pass down unaffected genes: The child will not be affected.

There’s no cure for Tay-Sachs disease. Treatment may slow the progression of the condition and improve a child’s quality of life. Complications and life expectancy depend on the onset of the disease and what type a person has.

With the infantile form, this neurodegenerative disease may lead to repeated infections, like aspiration pneumonia. Children typically live to between 4 and 5 years old.

With juvenile onset, children may experience motor issues and psychological symptoms and may eventually progress to a vegetative state. Life expectancy is between 10 and 15 years old.

Researchers are currently working on treatments, like enzyme replacement therapy, with the hope of improving symptoms and extending life.

Where is Tay-Sachs disease most common?

Regions in North America with the highest rates of Tay-Sachs include:

  • Southwest Louisiana, U.S. (Cajun population)
  • Pennsylvania, U.S. (Amish)
  • Southeast Quebec, Canada (French-Canadians)

Globally, the groups most affected by Tay-Sachs disease are populations that originated in Central and Eastern Europe.

Is Tay-Sachs a rare disease?

Yes. Tay-Sachs is considered rare in the general population. However, it’s more common in groups that have a higher rate of the affected gene.

What are the odds of passing Tay-Sachs disease to your children?

If both biological parents are carriers of the affected gene, there’s a 25% chance their child will develop Tay-Sachs. There’s a 50% chance their child will be a carrier and a 25% chance their child will be unaffected.

Make an appointment with your doctor if you suspect you or your partner might be a carrier of an affected gene. You can learn your status by having a simple blood test. If you’re already pregnant, genetic testing is another option.

Remember: A child must inherit two affected genes to develop Tay-Sachs. Your doctor can go over your risks and, if necessary, discuss alternative modes of reproduction, like in-vitro fertilization, using donor eggs or sperm, or adoption.