Definition

Sandhoff disease is a relatively rare, genetically inherited disease that results in the progressive deterioration of the central nervous system. In Sandhoff disease, abnormal lipid (fat) accumulation due to a storage defect causes damage to the brain as well as other organs of the body.

Description

Sandhoff disease is an autosomal recessive disorder, meaning that having an affected offspring requires both unaffected parents to be carriers. Parents who carry the disorder will have a 25% risk of having an affected offspring in subsequent pregnancies. This disease is similar to a related disorder known as Tay-Sachs disease, although Sandhoff disease is more severe.

Demographics

As Sandhoff disease is a recessive disorder, males and females are affected with equal frequency. This disorder is more...