A genetic disease is a disease that can be heritable or inheritable, and one of them is known as Angelman Syndrome. Also referred to as AS, it can change a person, both physically and mentally. Angelman Syndrome, just like any other genetic disease, has symptoms, or characteristics of the carrier. It has effects on the daily life of the carrier, and can be treated, but not cured. AS also has a certain prognosis, or outcome.
Angelman Syndrome, similar to other genetic diseases, has many symptoms. Symptoms are mental or physical characteristics that determine that a person has a genetic disease or any disease in general. In Angelman Syndrome, one common symptom is that of speech impairment (Roggenback). Another symptom that is usually present is late development, which is when the body takes more time than it is supposed to in order to form an appearance (Roggenback). People with AS may have periodic seizures, as well as Microcephaly, which is when a person has a smaller head than normal (“Angelman Syndrome.” National). They are prone to having balance disorders, which causes unstable and jerky movements (Roggenback). Along with these shaky movements, patients with Angelman Syndrome have hand –flapping movements (“Angelman Syndrome.” The Encyclopedia). The balance disorder is a possible reason for their walking problems.
Although there are many severe symptoms of Angelman Syndrome, there is a few that seem to be more laid back and do not affect the diagnosed patient as much. According to Genetics Home Reference, “Children with Angelman Syndrome typically have a happy, exitable demeanor with frequent smiling, laughter, and hand –flapping movements” (“Angelman Syndrome.” Genetics). Therefore, people with Angelman Syndrome do not alwa...
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...There are many outcomes of what treatments are available depending on what symptoms they have the most severe case of.
Works Cited
“Angelman Syndrome.” The Encyclopedia of Genetic Disorders and Birth Defects. Eds. James Wynbrandt and Mark D. Ludman. New York: Facts on File, 2000. 26 –27. Print.
“Angelman Syndrome.” Genetics Home Reference. U.S. National Library of Medicine. 21 Apr. 2014. Web. 18 Apr. 2014.
“Angelman Syndrome.” National Center for Biotechnology Information. N.d. Web. 29 Apr. 2014.
“NINDS Angelman Syndrome Information Page.” National Institute of Neurological Disorders and Stroke (NINDS). N.d. Web. 28 Apr. 2014.
Roggenback, Jennifer; Carson –Dewitt, Rosalyn. “Angelman Syndrome.” Gale Encyclopedia of Neurological Disorders. 2005. Encyclopedia.com. Web. 29 Apr. 2014.
“What is Angelman Syndrome?” Angelman Syndrome Foundation. N.d. Web. 29 Apr. 2014.
This hope is particularly needed in cases where patients are not able to respond to standard treatment options.
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
in the first place and was suffering from other major illnesses. The society does not
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
Healthcare providers must make their treatment decisions based on many determining factors, one of which is insurance reimbursement. Providers always consider whether or not the organization will be paid by the patients and/or insurance companies when providing care. Another important factor which affects the healthcare provider’s ability to provide the appropriate care is whether or not the patient has been truthful, if they have had access to health, and are willing to take the necessary steps to maintain their health.
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The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
In the 1960’s, an Austrian pediatrician, Dr. Andres Rett, recognized a few of his female patients with similar indications of having some type of neurologic disorder but did not fit the cerebral palsy classification (Zoghbi, 2002). Without the knowledge of earlier research, a Swedish physician, Bengt Hagberg, began to openly speak about his observations similarly to Dr. Andres Rett records (Zoghbi, 2002). Bengt Hagberg observed numerous of female patients with this unknown syndrome and was curious in their wringing hand movement that no textbook had information on. In June 1981 Dr. Neil Gordon hosted a board meeting of the European Federations of Child Neurology Societies in Manchester and Bengt Hagberg had the opportunity to share his studies there. The discussion group had other pediatric neurologists that had seen the same behaviors but they all were unable to categorize it into its own identity. As years past, this syndrome has increased and neurologist began to evaluate this syndrome t...
...hich inherited traits, such as those for genetic disease, can be tracked over generations. Throughout out the course of human development, scientists will continue to find new new ways to help the human race through the discovery of the human gene inside of each of us, its uses, as well as complications, that can help the survival of our species.
...agnosed at a later stage, most people die within two years of diagnosis and treatment.
Discussion between the physician and the patient regarding treatment options and the risks and benefits of treatment.
Subsequently, these disorders are not revealed to the healthcare provider which will transcend to delay of treatment, reduction in quality of life,
The primary reason why I’ve come to this view. Each patient diagnosed with a prolonged terminal illness has a unique response to their medical situation based on many factors such as; support
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