cory's fabry powerpoint

cory's fabry powerpoint - By: Cory Sidelsky About Fabry...

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By: Cory Sidelsky
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About Fabry Fabry disease is a rare hereditary disorder caused by a faulty gene in the body. It affects more males than females: It is estimated that 1 in 40,000 males has Fabry disease, whereas the estimated prevalence in the general population is 1 in 117,000 people. Hereditary (or genetic) disorders are those that are passed down from parents to their children through the genes. One or both parents may carry an abnormal gene that, when passed along to their children, can result in disease. Since the Fabry disease gene is located on the X chromosome, the disease primarily affects males (although some females can also experience symptoms).
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Location of Fabry Disease on the X Chromosome Start: 95,944,571 bp from pter End: 95,954,725 bp from pter Size: 10,154 bases Orientation: minus strand
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Punnett Squares for X-Linkage
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Clinical Symptoms Sudden, intense episodes of burning Persistent pain in the hands or feet Recurrent fever Intolerance of heat or cold Impaired sweating Psychological and social issues A purple-red rash in the midriff area (angiokerotoma) Corneal whorling
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Predicted Life Span
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Meet Dave "I am 31, and Fabry disease affects me daily with burning pain in the hands. I had a kidney transplant three years ago when I was 28, and since then I have to take medication daily, and monitor blood pressure and so on. Before my surgery, going through dialysis had a big impact on my life. My inability to sweat affects me occasionally. It goes hand in hand with my body temperature. As my body temperature rises, pain increases in the hands." "When I was a child, the most prevalent everyday symptom was burning of the feet. It started when I was about 8 years old with physical exercise and changes in body temperature. And then when I was about 13, it switched to the hands, and it's been in the hands ever since. Other members of my family have had it, and they always called it burning hands and feet."
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Meet Sara "I am 43. I have different symptoms every day; my typical symptoms include difficulty breathing, appetite and sleeping problems, a lot of nausea. I have ringing in my ears, headaches, and just generally feel very ill, to different degrees, every day. I have pain throughout my body,
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cory's fabry powerpoint - By: Cory Sidelsky About Fabry...

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