Angelman Syndrome

Angelman Syndrome is a disease that was discovered in 1965 by a physician named Harry Angelman. The symptoms of this disease are slurred speech, hyperactivity, small sized head, sleep disorders, movement and balance disorders, and seizures. People with Angelman Syndrome usually lead healthy, normal lives and have a normal life expectancy. However, there is no specific cure for Angelman Syndrome that will free people from this disease. Usually, patients with this disease are treated with physical and occupational therapies, communication therapy, and behavioral therapies that allow individuals with this syndrome to reach their maximum development potential. Angelman Syndrome affects an estimated 1 in 12,000 to 20,000 people in the world. The Angelman Syndrome Foundation has knowledge of around 1000 cases of this disease in the U.S. and Canada. Also, Angelman Syndrome is found among all racial groups. This disease is not directed to one specific group. The gene for Angelman Syndrome is called UBE3A. When this gene is turned on, the disease does not occur. But when the gene is turned off, the disease occurs. In patients with Angelman Syndrome, a missing UBE3A gene only occurs in the chromosomes given by the mother. Mutations in the area of the Imprinting Center can also cause Angelman Syndrome. The National Institute of Neurological Disorders and Stroke (NINDS) supports and conducts research on neurogenetic disorders such as Angelman Syndrome, to develop techniques to diagnose, treat, prevent, and ultimately cure them.
After learning so much information about Angelman Syndrome, it is sure to make anyone realize how hard life could be for those who have this disease. Even though patients can maintain a healthy lifestyle, there will always be something that will stop them from being like everybody else around them. Still, by getting the right therapies, they can reach their maximum development potential. Learning about this disease made me feel very sympathetic towards those who have this terrible disorder and I hope that the NINDS soon find a cure for Angelman Syndrome.