About Tay-Sachs Disease

What is Tay-Sachs Disease?

Tay-Sachs disease (TSD) is a hereditary condition caused by mutations in the Hex-A gene, leading to a deficiency or absence of the Hex-A enzyme. This deficiency causes fatty waste products to accumulate in cells, particularly nerve cells in the brain, causing cell swelling and death. The Hex-A gene was identified in 1985 and since then, roughly 75 to 100 mutations linked to TSD have been discovered.

TSD manifests in Infantile, Juvenile, or Late On-Set forms. Both Infantile and Juvenile forms are untreatable and fatal, while the Late On-Set form progresses slower but remains devastating. Disease progression correlates with Hex-A levels; Infantile cases, often devoid of Hex-A, progress rapidly, typically resulting in death by age 3. Symptoms, undetectable at birth, reveal themselves months later. TSD can affect families with no prior history of the disease. Carriers can be identified through enzyme assays or DNA studies of blood samples, which measure Hex-A levels. The National Tay-Sachs & Allied Diseases Association (NTSAD) offers a list of certified screening locations. As there is no cure, genetic testing in high-risk groups and prenatal testing for affected fetuses are crucial

The 3 Levels of 
Tay-Sachs Disease

Tay-Sachs disease manifests in three different onset stages. The stage of onset is typically established by medical practitioners based on the age at which the person first started showing signs of the disease.


Symptoms typically appear between the ages of 3–6 months of age.


Symptoms typically appear between the ages of 2–5 years of age.

Late Onset

Symptoms typically appear in adolescence and into adulthood.


Tay-Sachs disease, named after British ophthalmologist Warren Tay and New York neurologist Bernard Sachs, is marked by a distinctive cherry-red spot on the retina. While Warren Tay first identified the condition in 1881, Bernard Sachs later outlined its cellular changes and familial nature. Originally prevalent among Eastern European Jews, it now impacts people from diverse backgrounds.


Tay-Sachs disease lacks a cure or effective treatment. Yet, the scientific community tirelessly explores potential therapeutic approaches, from gene therapy to chaperone therapy. These groundbreaking research efforts offer hope for a healthier future.


Tay-Sachs carrier testing is crucial, especially for those in high-risk groups including Ashkenazi Jews, French Canadians, Louisiana Cajun, Pennsylvania Dutch, and possibly individuals of British Isle and Italian descent. It’s recommended to undergo testing before conception, but even outside childbearing years, knowing your carrier status is valuable. If you’re a carrier, it’s important to inform close relatives so they can also get tested. The relatives of families with a Tay-Sachs affected child should also consider testing, regardless of ethnicity.