Tay Sachs

Topics: Brain, Genetic disorder, Nervous system Pages: 2 (595 words) Published: August 11, 2013
Tay-Sachs Disease

Tay-Sachs is a genetic disorder found on chromosome 15. There are numerous types of Tay-Sachs, depending on when it first developed and the symptoms that occur. The rare and life threatening disease is found most commonly in infants. There is a wide range of symptoms that can first start appearing as early as the first three to six months of life. It is extremely rare for a child with Tay-Sachs to live older than five years of age. Tay-Sachs disease is a birth defect caused by a dysfunctional enzyme that fails to breakdown group of brain lipids. The cause of the dysfunctional enzyme is caused by a deficiency of an enzyme called Hexosominidase A, or Hex A which is supposed to break down fatty substances in the nerve cells of the brain. When the lipids build up in the brains nerve cells, it leads to a slow degeneration of the cells of the nervous system, thus bringing decay of the cerebellum There are three types of Tay-Sachs depending on the extremities of the symptoms and predicted life span and age when the disease is first developed; Including Classic Infantile, Juvenile, and Late Onset Tay-Sachs. Classic Infantile is the Tay-Sachs found in infants. Infants with infantile Tay-Sachs appear normal at birth and typically continue to develop normally for the first six months of age. Around 6 months of age, development slows. Parents may notice a reduction in vision and tracking and the baby does not outgrow normal startle response. Tay-Sachs in adolescents is known as Juvenile Tay-Sachs. Symptoms include lack of coordination or clumsiness and muscle weakness such as struggling with stairs. A child may also exhibit slurred speech, swallowing difficulties and muscle cramps. The third type of Tay-Sachs is Late Onset Tay-Sachs also known as “LOTS” which is found in adults. In LOTS symptoms are developed later and include clumsiness and muscle weakness in the legs. Adults often reflect back to their childhood and may notice experiencing symptoms...

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