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Articles » NINDS Sandhoff Disease Information Page: NINDS

NINDS Sandhoff Disease Information Page: NINDS

Article title: NINDS Sandhoff Disease Information Page: NINDS

Main condition: Sandhoff Disease

Conditions: Sandhoff Disease

What is Sandhoff Disease?
Sandhoff disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzyme hexosaminidase which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. Although Sandhoff disease is a severe form of Tay-Sachs disease—which is prevalent primarily in people of European Jewish descent—it is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Symptoms may include motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, frequent respiratory infections, macrocephaly (an abnormally enlarged head), doll-like facial appearance, cherry-red spots in the back of the eyes, seizures, and myoclonus (shock-like contractions of a muscle).

Is there any treatment?
There is no specific treatment for Sandhoff disease. Treatment is symptomatic and supportive.

What is the prognosis?
The prognosis for individuals with Sandhoff disease is poor. Death usually occurs by age 3 and is generally caused by respiratory infections.

What research is being done?
The NINDS supports research on genetic disorders such as Sandhoff disease. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them. Scientists have had some limited success in studies using the mouse model of this disorder by inhibiting the formation of the accumulating lipid. The animals fare better but the treatment is still far from life-saving.


National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

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