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Huntington’s disease

Huntington’s disease. By AV. Definition . A hereditary disorder that effects the brain and nervous system. Nerve cells (neurons) in the brain gradually deteriorate and the brain no longer operates normally.

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Huntington’s disease

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  1. Huntington’s disease By AV

  2. Definition • A hereditary disorder that effects the brain and nervous system • Nerve cells (neurons) in the brain gradually deteriorate and the brain no longer operates normally • Two functions are affected:- control of involuntary movement- mental faculties of perception and movement • Affects men and women of all ethnic groups • Those who have the disease become more physically helpless and mentally impaired as time goes on

  3. Definition The disease destroys cells in the basal ganglia, the part of the brain that controls movement, emotion, thoughts, perception and memory.

  4. HISTORY • 1692- residents of Salem, MA stared at the strange ‘dancing’ movements and violent outbursts of temper of their neighbours. • 1872- American doctor George Huntington first described the disorder - disease had been called Huntington’s chorea

  5. History • 2008- the U.S. Food and Drug Association approved tetrabenazine to treat HD’s chorea (the involuntary movements) making it the first drug to treat Huntington’s disease • 2001- Christopher Ross and his team at John Hopkins University described how the HD gene causes death of cells - since finding out that the mutant huntington protein causes cell death, researches have been optimistic about its potential as a drug target

  6. Causes • Caused by a single gene on chromosome four • Normal gene huntington in chromosome four contains the short, three-element sequence coded CAG in it’s DNA which codes for the protein huntington • The sequence CAG calls for a specific amino acid within the protein • Sometimes a mutation occurs that causes the CAG to be repeated more than once • Normally the CAG is repeated 10 to 35 times, but a person with Huntington’s it’s repeated 36 to 120 times

  7. Symptoms • Usually do not appear until the age of 35-45 First “sign” of the disease is family history along with: • Slight clumsiness • Mild absent-mindedness • Increased moodiness • Antisocial behaviour • Abnormal motor control –may first appear as stiffness or unsteadiness Mental signs begin with irritability, forgetfulness and depression and get worse eventually becoming disorientated and demented.

  8. Symptoms The actual breakdown of motor control and loss of mental capacity may take months or years to become unmistakeable. These symptoms include: • Control of your mouth and tongue muscles is damaged • Involuntary movements like- jerks, twitches and a distinctive writhing or flailing of the arms of the legs • Speech is slurred and unintelligible • Head turning to shift eye position • Face moving, grimacing Eventually cannot walk, talk, stand or manage simple, everyday tasks.

  9. Statistics • Dominant gene- any person who has the gene will have the disease • Children of a person with Huntington’s disease has a one-in-two, 50%, chance of inheriting the gene, and the disorder • Occurs 1 in every 10,000-25,000 births • Tends to be concentrated within certain populations and families • About 30,000 affected people in North America and 150,000 at risk Blue coloured person has the disease.

  10. Diagnosis • During pregnancy a woman can find out if her baby will have the disease with two tests: - taking a sample of fluid from around the fetus (amniocentesis)- taking a sample of fetal cells from the placenta (chorionic villus sampling (CVS)) • After the child is born, doctors can identify the disease by first doing a series of neurological and psychological tests • A genetic test can then confirm the diagnosis by determining if the person indeed has inherited the HD gene mutation • However, the test cannot tell at what age a person will begin to get sick.

  11. Cindy Verhonich was lost to huntington’s disease at age 48

  12. Treatment • No specific treatments and medications vary on symptoms • Huntington’s disease cannot be cured or stopped, but symptoms can be alleviated • Antipsychotic drugs and Antidepressants- may help control involuntary movements • Dopamine- may help reduce abnormal behaviours and movements • Haloperidol, Tetrabenazine and Amatadine- control extra movements • Regular excersise • Physical or speech therapy helps HD patients live more of a normal life

  13. Prognosis • Depression and suicide are common among people with Huntington’s disease • As the disease progresses, patients will need assistance and supervision, which may eventually lead to 24-hour care • Death is commonly caused by a complication of the disease such as choking, or an injury related to a fall • Life expectancy of 15-20 years once the disease has fully developed

  14. Future Outlook • Scientists have found that drugs called HDAC inhibitors counteract gene activity problems and have some potential for aiding HD • These drugs are said to reduce brain cell damage and improve movement abilities • Currently researchers are testing an HDAC inhibitor in about 60 patients with Huntington’s disease • Other techniques being tested are RNA interference which targets the abnormal HD gene directly and is said to help some of the physical symptoms and brain abnormalities

  15. Did you know? • People with Huntington’s disease run a high risk of being arrested for “drunkenness” when observed staggering, slurring words and behaving oddly • Also called chorea, which means an abnormal involuntary movement disorder. The word comes from an old Greek word meaning “dance” as the quick movements of the feet or hands are comparable to dancing or piano playing.

  16. References Groiler Educational. (2003).Huntington’s disease. Diseases Fever to Hypothermia. (Volume 4, pp. 106-109). United States: Scientific Publishing.Kagan, Jerome & Gall B., Susan. Huntington's Disease. Health & Wellness Resource Center. Retrieved: March 28th, 2011 from http://galenet.galegroup.com/servlet/HWRC/hits?docNum.Kelley, Evelyn. (2002). Huntington’s disease. Diseases and disorders. Retrieved: May 4th, 2011 from http://pubs.acs.org/suscribe/journals/mdd/v05/i02/html/02disease.htmlThe University of Utah. (2011). Huntington’s disease. Learn.Genetics. Retrieved: May 7th, 2011 from http://learn.genetics.utah.edu/content/disorders/whataregd/hunt/

  17. References _________. (2006). Huntington’s disease. Society for Neuroscience. Retrieved: May 7th, 2011 from http://www.sfn.org/index.aspx?pagename=brainBriefings_huntingtons_disease________. (2010). NINDS Huntington Disease Information Page. National Institute of Neurological Disorders and Stroke. Retrieved: April 9th, 2011 from http://www.ninds.nih.gov/disorders/huntington/huntington/htm ________. (2011). Huntington’s Disease. PubMed Health. Retrieved: April 9th, 2011 from http://www.ncbi.nlm.gov/pubmedhealth/PMH0001775/

  18. Pictures • http://pharma-notes.blogspot.com/2010/11/huntington-disease.html • http://www.hihg.org/modules/education/design/Print.asp?CourseNum=2&LessonNum=1 • http://jwids.glogster.com/huntingtons-disease/ • http://pubs.acs.org/subscribe/journals/mdd/v05/i02/html/02disease.html • http://geneticpeople.com/?tag=will-sooner • http://www.bothbrainsandbeauty.com/academicdiscussions/huntingtons-disease-991 • http://www.curehd2006.com/about_hd.htm • http://www.dianenet.com/familytree/cindy/cindy.html

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