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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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Q: How is Sandhoff disease different from Tay-Sachs?
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Related questions

Does TaySachs disease have a dominant or a recessive trait?

recessive


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.


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.


Who is most at risk for Sandhoff disease?

As Sandhoff disease is a recessive disorder, males and females are affected with equal frequency. This disorder is more common in people with non-Jewish descent, unlike Tay-Sachs disease, which is prevalent mainly in individuals with Jewish ancestry.


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.


What are the physical characteristics of a child with Sandhoff?

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.


What is the average age of onset for Sandhoff disease?

At birth, infants tend to be without symptoms and usually do not develop them until approximately six months of age.


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Crohn's Disease is not contagious. This disease is caused in different ways, and none of them make the disease contagious.


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