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Sandhoff disease
It is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. Sandhoff disease symptoms are clinically indeterminable from Tay-Sachs Disease. The first signs of symptoms begin before 6 months of age and the parents' notice when the child begins digressing in their development. If the children had the ability to sit up by themselves or crawl they will lose this ability. This is caused by a slow deterioration of the muscles in the child's body. Later there are several symptoms that begin to appear such as muscle/motor weakness, sharp reaction to loud noises, blindness, deafness, inability to react to stimulants, respiratory problems and infections, mental retardation, seizures, cherry red spots in the retina, enlarged liver and spleen (hepatosplenomegaly), pneumonia, or bronchopneumonia.
- Part of Speech: proper noun
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- Industry/Domain: Health care
- Category: Incurable diseases
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