Sandhoff Disease

Learn More About the Onset Levels of Sandhoff Disease.

The Three Onset Levels of Sandhoff Disease

Sandhoff 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 Sandhoff Disease?

Sandhoff disease is a rare lysosomal storage disease where the reduced or absent activities of two vital enzymes called beta-hexosaminidase A (HexA) and beta-hexosaminidase B (HexB) causes fatty substances to build up in the nerve cells, which damages the brain and spinal cord.

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

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

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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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