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Definition of Sandhoff disease

Sandhoff disease: A genetic disorder with symptoms that are very similar to those of Tay-Sachs disease (TSD) and that is characterized by accumulation of fatty material called GM2 ganglioside in the nerve cells of the brain. Symptoms begin around 6 months of age, with motor weakness, and progress to include difficulties with swallowing and breathing. Death usually occurs by age 3. Late-onset forms also occur and are characterized by progressive neurological deterioration. Sandhoff disease is an autosomal recessive disorder caused by a mutation of a gene on chromosome 5. Unlike TSD, it is most common in the non-Jewish population.

See also Tay-Sachs disease.


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Reviewed on 12/11/2018

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