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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Sandhoff disease


Other Names for this Disease

  • Beta-hexosaminidase-beta-subunit deficiency
  • GM2 gangliosidosis, type 2
  • Hexosaminidase A and B deficiency Disease
  • Sandhoff-Jatzkewitz-Pilz disease
  • Total hexosaminidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Is there a cure for Sandhoff disease? Are there effective treatments for this condition? What is the prognosis for an affected individual?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Sandhoff disease?

Sandhoff disease is an inherited lipid storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.[1][2] The most common and severe form of Sandhoff disease 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. Other forms of Sandhoff disease have been described where much milder signs and symptoms begin in childhood, adolescence, or adulthood. These forms are very rare. Sandhoff disease is caused by mutations in the HEXB gene.[1] These mutations cause 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.[2] Sandhoff disease is inherited in an autosomal recessive manner.[1] 
Last updated: 10/19/2011

Is there a cure for Sandhoff disease?

To date, there is no cure or effective treatment for Sandhoff disease.[3] 
Last updated: 10/19/2011

How might Sandhoff disease be treated?

Since there are no specific treatments for Sandhoff disease, management is symptomatic and supportive. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may be used to control seizures. In recent studies, a small number of children have received an experimental treatment using transplants of stem cells from umbilical cord blood.  Although these limited trials have not yet produced a treatment or cure, scientists continue to study these and other investigational approaches.[2]  Additional information about investigational treatments for Sandhoff disease can be accessed through the National Tay-Sachs & Allied Diseases Association, Inc. web page for Sandhoff disease.
Last updated: 10/19/2011

What is the prognosis for individuals with Sandhoff disease?

The prognosis for individuals with Sandhoff disease is poor. Death usually occurs by age 3 or 4 and is often caused by respiratory infections.[2][4]
Last updated: 10/19/2011

References
Other Names for this Disease
  • Beta-hexosaminidase-beta-subunit deficiency
  • GM2 gangliosidosis, type 2
  • Hexosaminidase A and B deficiency Disease
  • Sandhoff-Jatzkewitz-Pilz disease
  • Total hexosaminidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.