huntington’s disease maggie phoebe leonora by:. name of disorder? are there other names for...
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HUNTINGTON’S DISEASE
M A G G I E
P H O E B E L E O N O R A
B Y :
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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)
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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
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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
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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
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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)
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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
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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
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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
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THE END
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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.