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HUNTINGTON’S DISEASE MAGGIE PHOEBE LEONORA BY:. NAME OF DISORDER? ARE THERE OTHER NAMES FOR DISORDER/DISEASE (WHAT ARE THEY)? Huntington's disease -first.

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Presentation on theme: "HUNTINGTON’S DISEASE MAGGIE PHOEBE LEONORA BY:. NAME OF DISORDER? ARE THERE OTHER NAMES FOR DISORDER/DISEASE (WHAT ARE THEY)? Huntington's disease -first."— Presentation transcript:

1 HUNTINGTON’S DISEASE MAGGIE PHOEBE LEONORA BY:

2 NAME OF DISORDER? ARE THERE OTHER NAMES FOR DISORDER/DISEASE (WHAT ARE THEY)? Huntington's disease -first described the disorder in 1872 by American doctor George Huntington -Also known as Huntington's chorea -Two forms: 1) most common -adult-onset Huntington's disease -get symptoms in mid 30s & 40s 2) early-onset Huntington's disease -not many people have it -similar symptoms to Parkinson's disease (slow movements & tremor)

3 HOW IS THIS DISORDER/CONDITION INHERITED? (EX: X-LINKED, NONDISJUNCTION, AUTOSOMAL RECESSIVE, AUTOSOMAL DOMINANT, ETC.) -Progressive, degenerative disease that causes certain nerve cells in brain to waste away and is passed down through families -Genetic defect is on chromosome #4, this causes this part of DNA to repeat 10 to 35 times in a normal person while its 26 to 120 in a person with Huntington's disease - One parent has Huntington's disease= 50% chance of getting the gene -If you have the disease it will mean a parent had it, if you have it your kids will, if not there is no way they can

4 CAN SOMEONE BE A CARRIER FOR THE DISORDER/CONDITION? -Huntington’s disease is a rare fatal brain disease caused by inherited changes in only one gene -these changes lead to destruction of nerve cells in certain places in the brain -Scientists identified the gene in 1993, which is gene #4 -anyone with a parent with Huntington’s has a 50 percent chance of inheriting the gene, and everyone who inherits it will eventually have the disorder -The defect causes a part the DNA pattern, called a CAG to repeat, to occur many more times than it is supposed to occur -usually this section of DNA is repeated 10 to 35 times, but for people with Huntington's disease, it is repeated 36 to 120 times

5 WHAT IS THE FREQUENCY OF THE DISORDER/CONDITION? -The frequency of HD in different countries varies greatly -Few isolated populations of western European origin have higher prevalence of HD that shows to be from a founder effect -Including: Lake Maracaibo region in Venezuela (700 per 100,000 people), the island of Mauritius off the South African coast (46 per 100,000 people), and Tasmania (17.4 per 100,000 people) -The prevalence in most European countries ranges from 1.63-9.95 per 100,000 people -Everyone is affected differently based on the way their brain goes through development

6 WHAT ARE THE SYMPTOMS/EFFECTS & PROGNOSIS OF SOMEONE WITH THIS DISORDER? -The earliest symptoms and most common are usually related to mood and result in slight personality changes. -seem more eager -may not actually have clinical symptoms -irritability -Middle Age Symptoms: -muscle spasms, uncontrollable movement, change in speech is more obvious, trouble swallowing. -Three Categories: -motor or movement symptoms -personality and behavioral changes -cognitive decline -(Severity can vary from person to person)

7 HOW IS THE DISORDER/DISEASE DIAGNOSED? -Look at family medical history -An inherited disease -Magnetic resonance imaging (MRI) or computed tomography scan (CT scan) -genetic test: small blood sample- analyzed to determine the CAG repeat # -Linkage test- examines the pattern of DNA near the gene in both parents and fetus

8 WHAT IS THE TREATMENT, IF ANY? -No treatment -Doctors treat with medication that slows the progression of disease -These medicines treat symptoms & speed of progression -Anti-seizure medication= ease uncontrollable movement -Tranquilizers= alleviate outbursts & calm patient -There are some side effects: over-excitability to extreme fatigue & restlessness -Subside over time, if sever they use new combos -Scientists have bread lab animals implanted with fetal tissue to try to promote regeneration -Researchers have also tried various chemical compounds that may stimulate brain to overcome HD's degenerative effects

9 IS THERE A CURE? IF SO, WHAT IS IT? IF NOT, WHAT PROGRESS ARE SCIENTISTS MAKING TOWARD FINDING A CURE? -Currently no cure for Huntington’s -Research on potential treatments is increasing since scientists identified the gene that causes the disorder -In 2008, the U.S. Food and Drug Administration (FDA) approved tetrabenazine (Xenazine™) as the first drug specifically approved in the United States to treat the disorder movements associated with Huntington’s -Doctors also sometimes prescribe other drugs to manage symptoms

10 THE END

11 WORKS CONSULTED Dugale III, David C. Huntington’s Disease. 6/24/09. http://www.healthline.com. 1/28/11 Gale, Thomson. Huntington’s Disease. The Gale Encyclopedia of Neurological Disorders. Stacey L. Chamberlin, Brigham Narins. Farmington Hills. Thomson Gale, in 2005. Volume 1. 1/26/11. Knowles, Johanna. Huntington's Disease. New York: The Rosen Publishing Group Inc., 2007. Print. Lawrence, David M. Huntington’s Disease. Genes and Disease; Huntington’s Disease. New York. Chelsea House Publishing Group, in 1961. 1/26/11. Robinson, Richard. "Huntington's disease." The Gale Encyclopedia of Medicine. Detroit: Gale, 1999. 1489. Gale Science In Context. Web. 28 Jan. 2011.


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