Sandhoff Disease

Gene : HEXB

What is Sandhoff disease?

Sandhoff disease is an inherited disorder caused by defective enzymes, beta-hexosaminidase A and B, that help to break down fatty substances and sugar molecules within the cell. These compounds start to accumulate to toxic levels, particularly in cells in the brain and spinal cord. This eventually leads to the destruction of these cells. In the most common form of Sandhoff disease, symptoms start in infancy. Infants are normal for the first few months and then their development slows and their muscles weaken. They lose all motor skills and startle easily. As the disease progresses, they will have seizures, vision and hearing loss, intellectual disability, and paralysis. Eye examinations in these patients will identify a cherry-red spot that is characteristic to this disorder. Children with this severe form die in early childhood. There are later onset forms of Sandhoff disease that occur less commonly. Onset starts in childhood on into adulthood and symptoms are milder.These individuals may have muscle weakness, loss of coordination, mild intellectual disability, and mental illness. There is no cure for Sandhoff disease but medical surveillance and care may help to improve some symptoms and overall condition of life. Sandhoff disease is caused by pathogenic variants in the HEXB gene.

How is Sandhoff desease inherited?

Sandhoff disease is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

What does it mean to be a carrier?

There are generally no signs or symptoms associated with being a carrier for Sandhoff disease. However, the risk to have a child affected with Sandhoff disease is increased. Testing of reproductive partners is recommended for carriers of Sandhoff disease.

How common is Sandhoff disease?

Sandhoff disease is very rare in the general population. It appears to be more common in certain isolated populations such as the Creole population in the Cordoba region of Argentina.

Family References and Resources
Clinician References
What is Analyzed?
  • Full gene sequencing
Affected Systems





GI Tract

Carrier Rates
Detection Rate
Carrier Frequency
Ashkenazi Jewish 73% 1 in 500
General Population 73% 1 in 278

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