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Progeria :

By: Lauren O’Neill Block 3. Progeria :. Hutchinson Gilford Progeria Syndrome. History of Progeria. 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

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Progeria :

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  1. By: Lauren O’Neill Block 3 Progeria: Hutchinson Gilford ProgeriaSyndrome

  2. History of Progeria • 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

  3. Diagnosis 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

  4. Transmission 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

  5. Signs of Progeria 9-24 months: growth delays low weight undeveloped jaw crowding of teeth prominent eyes small nose

  6. Signs of Progeria 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

  7. Symptoms of Progeria Noticeable growth retardation Heart disease Baldness Arthritis A stroke or heart disease can lead to death of the Progeria patient

  8. Treatment 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

  9. Figures: Signs of Progeria

  10. Figures: Nuclei of Progeria Healthy nucleus Nucleus of Progeria patient

  11. Figures: Progeria patients hi

  12. Reference List Mayo Clinic staff. (2009, April 24). Causes. Retrieved May 21, 2010, from http://www.mayoclinic.com/health/progeria/DS00936/DSECTION=causes Mayo Clinic staff. (2009, April 24). Symptoms. Retrieved May 21, 2010, from http://www.mayoclinic.com/health/progeria/ds00936/dsection=symptoms Mayo Clinic staff. (2009, April 24). Tests and diagnosis. Retrieved May 21, 2010, from http://www.mayoclinic.com/health/progeria/ds00936/dsection=tests-and-diagnosis Okine. (2009). Hayley's Progeria Page. Retrieved May 21, 2010, from http://www.hayleyspage.com/index.htm Shah, K. N. (2009, February 27). Hutchinson-Gilford Progeria. Retrieved May 21, 2010, from http://emedicine.medscape.com/article/1117344-overview

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