Topic > Tay Sachs Disease - 834

Tay Sachs is an incurable genetic disease that affects the central nervous system. It is a rare disease that mainly affects infants and children, especially those of Jewish origin. It is characterized by a red spot on the retina, paralysis, gradual blindness, and loss of muscle movement. Tay Sachs can only be inherited, which means it is only passed on from parents to child. The process begins in the fetus, very early in pregnancy. However, the disease does not become physically noticeable until the baby is several months old. Tay Sachs is caused by the absence of a vital enzyme, called the Hex A gene, which is found on chromosome 15. This gene plays an important role in the nervous system. It breaks down the fatty substance called GM2 ganglioside in nerve cells. If this enzyme is unable to do its job, the compound will progressively build up to toxic levels in the brain and spinal cord. The buildup of GM2 leads to the destruction of nerve cells which causes the signs and symptoms of Tay-Sachs. The only way a child can develop Tay Sachs is by inheriting it. This genetic trait is relatively common in some ethnic groups, such as Ashkenazi Jews. There is a 1 in 27 chance that a Jew in the United States is a Tay Sachs carrier, and a 1 in 250 chance that someone in the general American population is a carrier. Tay Sachs carriers have a 50% chance of passing the defective gene to their children. A child who inherits just one bad gene is a carrier of Tay Sachs, just like his or her parent. If both parents are carriers and pass the Tay Sachs gene to their child, the child will have a 50% chance of being a carrier; a 25% chance of not being a carrier and not having the disease;...... half of the sheet ......of symptoms are generally milder than those seen in children with the condition. Symptoms in adult-onset Tay Sachs include: muscle weakness, loss of muscle coordination (ataxia), other movement problems, speech problems, and mental illness. Adults with Tay Sachs in adulthood can generally live full lives, although they will most likely be confined to a wheelchair. There is currently no cure for any form of Tay Sachs disease. Therefore, treatment focuses on controlling the symptoms of Tay Sachs. Doctors can help a child cope with the symptoms of Tay Sachs disease by prescribing medications to relieve pain, manage seizures, and control muscle spasticity. Researchers are developing methods to study and improve treatment options for Tay Sachs disease. However, even with the best possible care, children with Tay Sachs disease usually die by age 4 or older. 5.