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Sandhoff Disease Reviewed 12-14-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) 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 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? What is the prognosis? What research is being done? National Tay-Sachs and Allied Diseases Association
National Organization for Rare Disorders (NORD)
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