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 absence 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 it referred to as “GM2 gangliosidosis” or “GM2” in scientific literature.

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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