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A typical physical feature of Sandhoff disease is the presence of cherry-red spots in the back of the eyes. Additionally, affected children have an abnormally enlarged head and appear to have a doll-like appearance.

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What is the life expectancy for Sandhoff disease?

The prognosis for Sandhoff disease is poor. Affected babies usually do not survive past the age of three and typically, death occurs due to complications associated with respiratory infections.


What is the test for Sandhoff disease?

Because Sandhoff disease and Tay-Sachs disease have similar clinical symptoms, distinguishing them requires biochemical analysis. This involves a test to measure enzyme activity of the two hexosaminidase enzymes.


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What are the symptoms of Sandhoff disease?

The symptoms begin with motor deficits (lack of normal movement) and a characteristic startle reaction to various sounds. Babies with Sandhoff disease progressively deteriorate in terms of motor function, and they often have seizures and myoclonus


What is the treatment for Sandhoff disease?

There is no cure for Sandhoff disease, and treatment is based on lessening the symptoms once they begin. Medication is usually given to reduce seizures, for example, and a feeding tube may be inserted to prevent aspiration of feedings into the lungs.


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How is Sandhoff disease different from Tay-Sachs?

In Tay-Sachs disease, a mutation that affects the alpha subunit of the enzyme causes a deficiency in HexA. Sandhoff disease is caused by mutations that affect the beta subunit, rendering both the HexA and HexB enzymes deficient.


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