Sarah

Tay-Sachs
Mendelian Genetic Disorders are disorders and diseases that occur when a disease is inherited from parents to child and are caused by impaired genes. One such Mendelian genetic disorder is Tay-Sachs, named for Warren Tay, an ophthalmologist who first discovered a tell tale sign of the disease and Brenard Sachs, a neurologist who discovered the changes occurring in the brain and the prevalence among Jews. Tay-Sachs is a very rare disease that progressively destroys nerve cells in the brain and spinal cord. The most common form typically develops in infants. The infant typically appears normal until the age of 3 to 6 months until symptoms can be seen. People who are born with Tay-Sachs are born without a specific protein called Hexosaminidase A (Hex A). Without this protein unwanted fatty material and protein builds up in the brain. This accumulation of fat is what causes the symptoms of Tay-Sachs. The amount of enzyme activity dictates how severe the disease will be. With lower enzyme activity, the fats build up faster and in turn cause severe problems with the nervous system. All people have two copies of the Hex A gene. In most people both of these genes are fully functioning. However, when a person has one functioning Hex A gene and the other one has a genetic mutation they are a carrier. Carriers do not show any signs or symptoms and therefore are virtually harmless. Yet if two carriers have children there is a twenty five percent chance that their child could have two not functioning Hex A genes, and in turn develop TaySachs. There are other forms of Hex deficiencies that are sometimes referred to as Tay-Sachs. For example, Juvenile Hex A deficiency, in which the child has one not functioning Hex A gene and one Hex A gene that is mutated but still produces some proteins. People with this deficiency have similar symptoms as those who have Tay-Sachs but the age of death usually occurs in the teenage years rather than as an infant. Children who have Tay-Sachs show symptoms that include hearing, sight, and movement problems. At 3 to 6 months the child will start to progressively lose the ability to see hear and move. The most common tell tale sign of the disease is a cherry red spot that will develop in the back of the childs eyes. Quickly the child will lose the ability to perform simple tasks and will begin to lose responsiveness. Seizures will commonly occur within a year of age and death usually occurs between ages 2 to 4. Tay-Sachs is a very rare disease but is quite prevalent in people of Ashkenazi Jewish decent. One out of every thirty people of this decent is a carrier of Tay-Sachs.

Sarah

If parents notice the signs and symptoms that are common to Tay-Sachs they can go to a doctor who can identify the disease with a physical exam and blood testing. There is no cure for any form of Tay-Sachs therefore the prognosis is usually death, depending on how serious the case is. However doctors can help with parents and children with Tay-Sachs cope with the symptoms of the disease by prescribing medication for pain, managing seizures, and controlling muscle spasms.

Works Cited:
"Tay-Sachs Disease." - Genetics Home Reference. Genetics Home Refrence, n.d. Web. 12 Apr. 2014. "Tay-Sachs Disease." KidsHealth. Ed. Louis E. Bartoshesky. The Nemours Foundation, 01 May 2011. Web. 14 Apr. 2014. "Tay-Sachs Disease." Tay-Sachs Symptoms, Tay-Sachs Causes. Cleveland Clinic Children's, n.d. Web. 14 Apr. 2014. "Tay-Sachs Disease." Intelihealth. Aetna, 28 June 2011. Web. 15 Apr. 2014. "Tay-sachs Disease." National Tay-Sachs & Allied Diseases Association of Delaware Valley (NTSAD-DV). Association of Delaware Valley, n.d. Web. 14 Apr. 2014.