By: Lauren O’Neill Block 3

 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

 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

 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

 9-24 months: › growth delays › low weight › undeveloped jaw › crowding of teeth › prominent eyes › small nose

 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

 Noticeable growth retardation  Heart disease  Baldness  Arthritis  A stroke or heart disease can lead to death of the Progeria patient

 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

› Healthy nucleus › Nucleus of Progeria patient

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 Mayo Clinic staff. (2009, April 24). Causes. Retrieved May 21, 2010, from alth/progeria/DS00936/DSECTIO N=causes alth/progeria/DS00936/DSECTIO N=causes  Mayo Clinic staff. (2009, April 24). Symptoms. Retrieved May 21, 2010, from alth/progeria/ds00936/dsection =symptoms alth/progeria/ds00936/dsection =symptoms  Mayo Clinic staff. (2009, April 24). Tests and diagnosis. Retrieved May 21, 2010, from alth/progeria/ds00936/dsection =tests-and-diagnosis alth/progeria/ds00936/dsection =tests-and-diagnosis  Okine. (2009). Hayley's Progeria Page. Retrieved May 21, 2010, from ndex.htm  Shah, K. N. (2009, February 27). Hutchinson-Gilford Progeria. Retrieved May 21, 2010, from m/article/ overview m/article/ overview