Tay-Sachs disease is an inherited, rare disorder which primarily affects the central nervous system. It affects infants and young children, and results in progressive impairment and early death. Fewer than 100 children are born with this disease each year in the U.S.
Causes of Tay-sachs Disease
Tay-Sachs disease is the result of a genetic disorder. It is a recessive gene, meaning that the genetic abnormality has to be derived from both parents in order for it to cause clinical symptoms. It leads to an enzyme deficiency. When both parents have the gene, there is 25% chance of having a child with Tay-Sachs disease. If only one parent has the gene, then the child will not have the disease. The gene is present in 1 out of 60 people of Ashkenazi Jewish or French Canadian ancestry.
Signs and Symptoms of Tay-sachs Disease
Shortly after birth, infants that have the genetic defects producing Tay-Sachs disease begin to develop symptoms. There is loss of alertness and slowed mental development. Muscle strength is lost and the infants have difficulty sitting up or turning over. As the disorder progresses, the infants may develop deafness, blindness, seizures and severe constipation caused by an impaired nerve supply to the colon.
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Medical Content Last Updated on 07/12/2008
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