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Home :: Family Health :: Tardive Dyskinesia Tardive Dyskinesia - Tardive Dyskinesia symptom, treatment, causesTay Sachs Disease is arare inherited disorder that causes a lack of the enzyme hexosaminidase A (Hex A) which normally breaks down a fatty substance, called GM2 ganglio-side, in the brain. Small amounts of this substance are essential for proper brain function, but if it accumulates because Hex A is lacking. permanent damage to brain cells results. Tay-Sachs disease is most common among Ashkenazi Jews. The gene responsible for the defect is recessive. If both parents are carriers, 1 in 4 of their children will be affected, and 2 in 4 of them will be carriers. People at risk of being carriers are offered screening tests. Confirmed carriers are offered antenatal testing and genetic counselling (so that they can assess the risks if they are planning to have children). If a foetus is found to be affected, the parents may choose to terminate the pregnancy. This approach has resulted in a vast reduction in Tay-Sachsdisease among Jewish people. Tay-Sachs and Sandhoff diseases are inherited diseases of the central nervous system. The most common form of the disease affects babies. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. After this time, development slows and symptoms begin. Sadly, there is no effective treatment for these babies. Babies with Tay-Sachs lack an enzyme (protein) called hexosaminidase A (hex A) necessary for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working. Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 5. TSD affects boys and girls equally. The disease is very rare in the general population, with 1 person in every 35,000 carrying the defective gene and 1 in 360,000 infants being born with the disease worldwide. However, the defective gene is much more common in people of Ashkenazi (eastern and central European) Jewish descent. TSD is relatively common in this population, where about 1 person in 30 carries the defective gene and about 1 in 2,000 will develop the disease. A genetic metabolic disorder caused by deficiency of the enzyme hexosaminidase A (hex-A) that results in a failure to process a lipid called GM2 ganglioside that accumulates in the brain and other tissues. Under normal conditions, gangliosides are continuously broken down, so that an appropriate balance is maintained. In Tay-Sachs disease, the enzyme necessary for removing excess gangliosides is missing. This allows gangliosides to accumulate throughout the brain, and is responsible for the disability associated with the disease. About one out of every 3,600 babies born to Ashkenazi Jewish couples will have the disease. Tay-Sachs is also more common among certain French-Canadian and Cajun French families. Causes of Tay Sachs DiseaseThe common Causes of Tay Sachs Disease :
Symptoms of Tay Sachs DiseaseSymptoms of Tay-Sachs disease appear at about the age of 6 months, when an apparently healthy baby stops smiling, grasping, crawling and rolling over, and gradually becomes blind, paralysed and demented. Death by the age of 3.or 4 years is usual. There is no effective treatment. Some common Symptoms of Tay Sachs Disease :
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