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Published byLeon Green Modified over 8 years ago
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By: Lauren O’Neill Block 3
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Definition: fatal genetic condition that accelerates aging process by 8 times the normal rate First case found in 1886 by Jonathon Hutchinson and Hastings Gilford There have only been 100 reported cases in the whole world since discovery Any gender/race can have this disease About 1 in 8 million newborns are diagnosed with Progeria
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No diagnosis test can confirm Progeria Genetic mutation testing can prove one has the disease A blood test can be taken to support a diagnosis of Progeria Progeria is difficult to diagnose in newborns, but certain symptoms may be present at birth
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Caused by a single gene mutation Gene being mutated is Lamin A (LMNA) – makes protein that is crucial to holding nucleus together Disease is not passed down from family Affects a single sperm or egg just before conception
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9-24 months: › growth delays › low weight › undeveloped jaw › crowding of teeth › prominent eyes › small nose
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By 2 years old: › lose their hair from the scalp › lose their eyebrows and eye lashes › Small and white or blonde hairs sometimes replace the scalp hair › Loose, aged-looking skin › Stiff joints › High-pitched voice 10 years old: › Have the height of a 3 year old › Hip dislocation
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Noticeable growth retardation Heart disease Baldness Arthritis A stroke or heart disease can lead to death of the Progeria patient
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No known cure has been found Hydrotherapy: exercise and relaxation in a hydrotherapy pool to relieve arthritis pain Nutrini: dietary supplement to give patients nutrition needs Pro-Cal: gives energy and protein to daily diet Vitamin E: helps protect cells against radicals that contribute to heart disease Aspirin: helps prevention of heart disease Fluoride: helps make patients’ weak teeth stronger
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› Healthy nucleus › Nucleus of Progeria patient
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hi
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Mayo Clinic staff. (2009, April 24). Causes. Retrieved May 21, 2010, from http://www.mayoclinic.com/he alth/progeria/DS00936/DSECTIO N=causes http://www.mayoclinic.com/he alth/progeria/DS00936/DSECTIO N=causes Mayo Clinic staff. (2009, April 24). Symptoms. Retrieved May 21, 2010, from http://www.mayoclinic.com/he alth/progeria/ds00936/dsection =symptoms http://www.mayoclinic.com/he alth/progeria/ds00936/dsection =symptoms Mayo Clinic staff. (2009, April 24). Tests and diagnosis. Retrieved May 21, 2010, from http://www.mayoclinic.com/he alth/progeria/ds00936/dsection =tests-and-diagnosis http://www.mayoclinic.com/he alth/progeria/ds00936/dsection =tests-and-diagnosis Okine. (2009). Hayley's Progeria Page. Retrieved May 21, 2010, from http://www.hayleyspage.com/i ndex.htm Shah, K. N. (2009, February 27). Hutchinson-Gilford Progeria. Retrieved May 21, 2010, from http://emedicine.medscape.co m/article/1117344-overview http://emedicine.medscape.co m/article/1117344-overview
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