Tay-Sachs Disease

Learn More About the Three Onset Levels of Tay-Sachs Disease.

The Three Onset Levels of
Tay-Sachs Disease

Tay-Sachs disease exists on a spectrum with three onset levels. When diagnosing the disease, healthcare providers will determine the onset level based on the age of the affected individual when symptoms first appear.

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

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

  • Late Onset
    Symptoms typically appear in adolescence and into adulthood.

What is Tay-Sachs Disease?

Tay-Sachs disease is an autosomal recessive genetic disorder where the reduced or absent activity of an enzyme called beta-hexosaminidase A (HexA) causes fatty substances to build up in the brain and nerve cells, which damages the brain and spinal cord.

You might see Tay-Sachs referred to as “GM2 gangliosidosis” or “GM2” in scientific literature. GM2 gangliosidoses encompasses three related disorders: Tay-Sachs, Sandhoff, and GM2 Activator Protein Deficiency, commonly referred to as GM2 AB variant.

There is currently no cure for Tay-Sachs, but there are treatments and therapies to manage symptoms and maintain a baseline of symptoms for as long as possible.

We’re Here to Help You

Getting a diagnosis can be overwhelming. It’s hard to know what to do first. Our Director of Family Support, Becky Benson is here to help. She’ll answer your questions, share information, and invite you to connect with our caring and helpful Community.

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