Sandhoff Disease
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What is Sandhoff Disease?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
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 beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is
a severe form of Tay-Sachs disease--which is prevalent primarily in people of Eastern European and Ashkenazi Jewish descent--but
it is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may
include motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, macrocephaly
(an abnormally enlarged head), cherry-red spots in the eyes, seizures, and myoclonus (shock-like contractions of a muscle).
Other symptoms may include frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen.
Is there any treatment?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite 204 Brighton, MA 02135 info@ntsad.org http://www.ntsad.org Tel: 617-277-4463 800-90-NTSAD (906-8723) Fax: 617-277-0134 |
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
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Last updated April 17, 2007