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Sandhoff Disease

Sandhoff disease, like Tay-Sachs disease, is a hereditary condition that causes progressive destruction of nerve cells located in the brain and spinal cord. It is caused by a defect in the HEXB gene, and is an autosomal recessive condition. Both parents must have the defective gene in order for a child to inherit the disease. There is currently no cure, and death usually occurs by age 3.

What Is Sandhoff Disease?

Sandhoff disease is an inherited condition that causes progressive destruction of nerve cells in the brain and spinal cord.
Sandhoff disease is medically similar to Tay-Sachs disease -- which is prevalent primarily in people of eastern European and Ashkenazi Jewish descent.

How Common Is It?

Sandhoff disease is rare; its frequency varies among populations. The disease appears to be more common in:
  • The Creole population of northern Argentina
  • The Metis Indians in Saskatchewan, Canada
  • People from Lebanon.

What Causes It?

Sandhoff disease is caused by a mutation (defect) in the HEXB gene. This defect causes a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body.

Inheriting Sandhoff Disease

Sandhoff disease is an autosomal recessive condition, which means that both parents must have this defective gene in order for a child to inherit Sandhoff disease.
When both parents are carriers (meaning that one HEXB gene is normal and one is defective but they have no symptoms), each child has a 25 percent chance of having Sandhoff disease and a 50 percent chance of being a carrier of the disease.
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