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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Sandhoff disease is caused by variants (also known as mutations) in the HEXB gene. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, these two enzymes break down fatty substances, complex sugars, and molecules that are linked to sugars. In particular, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside.

Variants in the HEXB gene disrupt the activity of beta-hexosaminidase A and beta-hexosaminidase B, which prevents these enzymes from breaking down certain molecules, including GM2 ganglioside. As a result, these compounds can accumulate to toxic levels, particularly in neurons of the brain and spinal cord. In particular, a buildup of GM2 ganglioside leads to the progressive destruction of these neurons, which causes many of the signs and symptoms of Sandhoff disease. The severity of the shortage (deficiency) of the beta-hexosaminidase A and B enzymes typically determines the age at which the features occur and the form of Sandhoff disease that develops.

Because Sandhoff disease impairs the function of lysosomal enzymes and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.

Sandhoff disease is one of three conditions caused by a buildup of GM2 ganglioside. The other two conditions are called Tay-Sachs disease and GM2-gangliosidosis, AB variant, which are caused by variants in other genes.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Sandhoff disease?"},{"bodyHtml":"

The infantile form of Sandhoff disease is the most common and severe form and becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Sandhoff disease experience seizures, vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Some affected children also have distinctive facial features, enlarged organs (organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease usually live only into early childhood.

The juvenile and adult forms of Sandhoff disease are very rare. Signs and symptoms are usually milder than those seen with the infantile form, although they vary widely. The juvenile form can begin between ages 2 and 10.  Characteristic features include speech difficulties, loss of cognitive function (dementia), seizures, and  loss of muscle coordination (ataxia). Adult Sandhoff disease is characterized by problems with movement and psychiatric problems.

Source: MedlinePlus Genetics

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