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  • Essay / Progeria - 934

    Progeria is a rare and fatal genetic disease which comes from the Greek word progeros meaning prematurely old. In Greek, the word “pro” means before and the word “geras” means old age. Another name for progeria is Hutchinson-Gilford Progeria syndrome. Hutchinson-Gilford Progeria Syndrome (HGPS) was first described in 1886 by Dr. Jonathan Hutchinson and also in 1897 by Dr. Hastings Gilford in 1897 – both in England. Hutchinson-Gilford Progeria syndrome is reported in approximately 1 in 8 million newborns (Parker 16). Hutchinson-Gilford Progeria Syndrome affects both sexes and races of children equally and gives them an appearance of rapid aging (Nordqvist 1). Symptoms of this disease appear around the age of eighteen to twenty-four months. Some of the symptoms are stunted growth in the first year of birth, narrow, shrunken or wrinkled face, baldness, loss of eyebrows or eyelashes, macrocephaly, open soft spot, small jaw, skin dry and flaky, limited range of motion, and delay or absence. teeth (brown). To aid in the diagnosis of this disease, an overview of the symptoms is used and radiography is also used. X-ray is used to determine bone density and body composition, such as body fat and muscle. For example, in skull x-rays, the craniofacial bones are disproportionate and in hand x-rays, the terminal phalanges are radiolucent (Sarkar, Shinton 312). Blood tests are done to analyze cardiovascular risk factors and blood counts, urine tests for sugar and protein, photographs to study growth problems, an electrocardiogram and cardiac ultrasound to study the heart and blood vessels, lung function tests to measure energy consumption and lung capacity. , hearing tests, skin biopsy to examine the cellular choir...... middle of paper ...... the future looks promising for a treatment or cure to help these children live longer. Works Cited Brown WT. Progeria. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Manual of Pediatrics. 18th ed. Philadelphia, PA: Saunders Elsevier; 2007: chap 90Nordqvist,Christian. “What is Progeria?.” Medical News Today. MediLexicon, International, May 13. 2009. Web. February 20, 2012. http://www.medicalnewstoday.com/articles/146746.php Parker, James N. and Philip M. Parker. Progeria: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. San Diego, CA: ICON Health Publications, 2004. Progeria." Progeria Research Foundation. Lustig, Megan, February 14, 2000. Web. February 20, 2012. .Sarkar, P. and R. Shinton. "Hutchinson-Guilford Progeria Syndrome Hutchinson -Guilford Progeria (2001): 312-17.