1 / 20

Huntington’s Disease

Huntington’s Disease. Jennifer Pham 4 th Period November 16, 2011. Introduction. Huntington’s Disease (HD) is a progressive degenerative condition. It is a genetic defect that causes brain nerve cells to waste away Victims usually shows symptoms later in life. How do you get this disease?.

phuoc
Download Presentation

Huntington’s Disease

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Huntington’s Disease Jennifer Pham 4th Period November 16, 2011

  2. Introduction • Huntington’s Disease (HD) is a progressive degenerative condition. • It is a genetic defect that causes brain nerve cells to waste away • Victims usually shows symptoms later in life.

  3. How do you get this disease? • Autosomal dominant condition so it can affect both males and females • For an affected parent, 50% chance of transmission with each pregnancy. Males and females have the same chance of having affected children. • DNA sequence is CAG • Can be caused by genetic mutation

  4. Symptoms • Symptoms usually appear in adults within the third or fourth decade of life, although symptoms can occur in individuals younger or older than this. • Slight, involuntary muscular movements fingers, feet, face, or trunk. These movements intensify whenever the person is anxious. • Stumbling and clumsiness • Lack of concentration • Short-term memory lapses • Hostile outbursts of depression • Changes of mood, sometimes including ggressive or antisocial behavior

  5. Progressing Symptoms • Slurred speech • Weight loss • Vital functions, such as swallowing, eating, speaking, and especially walking, continue to decline. • Inability to recognize family members

  6. Where is it? • It has recently been localized on the fourth autosomal chromosome pair (the #4 chromosome). • In affected individuals, one gene of this gene pair (the HD gene) is not functioning properly and expresses itself more strongly, or 'dominates', the other working gene. • The mutation is an expansion of nucleotide triplet repeats (CAG - cytosine, adenine, guanine)in the DNA that codes for the protein huntingtin. • These increased number of triplets destroy the gene's ability to make the necessary protein or cause it to produce a misshapen and malfunctioning protein.

  7. How Life is like for HD Victims • The person affected cannot do much or go to work. They must have someone to help feed, clean, and care for them. • Some people become bedridden and others have to be on wheelchairs. • Families have to constantly be there for their affected family member. • People with HD tend to be unpredictable and so family members are greatly affected. Some families even split apart.

  8. Personal Experience Story “We feel (me and our children and family) that we walk on eggshells most of the time, not knowing when we might say something that sets him off. It's very hard. We really don't know what to do to "keep the peace." Apathy is another challenging area -- he only does the things he wants to do -- which isn't much.” -Unknown

  9. Treatment • Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. • There is no treatment to stop or reverse the course of the disease. • Tetrabenazine is used to treat Huntington's chorea. Antipsychotic drugs, such as haloperidol, or other drugs, such as clonazepam, may help to alleviate choreic movements and may also be used to help control hallucinations, delusions, and violent outbursts. • Patients can also take drugs to lessen depression.

  10. Prevention • Consider genetic testing and family planning options. • Seek a genetic counselor to discuss the potential risks of a positive test result, which would indicate the parent who will develop the disease. • Couples can make additional choices about whether to have children or to consider alternatives, such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.

  11. History • Huntington's Disease was first recognized as an inherited disorder in 1872 when a 22-year-old American doctor, George Huntington, wrote a paper called On Chorea. • There was a major breakthrough in 1983 when the US–Venezuela Huntington's Disease Collaborative Research Project discovered the approximate location of a causal gene. • In 1993 the research group isolated the precise causal gene at chromosome 4, making this the first autosomal disease locus found using genetic linkage analysis.

  12. History Cont. • Before the 19th century, some HD sufferers may have been thought to be possessed by spirits or persecuted as witches, and were shunned or exiled by society.  • It is believed that at least one of the alleged "witches" executed in Salem, Massachusetts in the 1690's had HD.

  13. Famous Person Who Had HD • Woody Guthrie

  14. Other Facts • Only one in 10,000 people have the disease • 30,000 known cases in the U.S • 150,000 people (US) who are at risk • Death is usually 10-20 years after initial symptoms • The suicide rate is 12.7%

  15. Works Cited • http://www.kumc.edu/hospital/huntingtons/genetics.html • http://www.ncbi.nlm.nih.gov/books/NBK22226/ • http://bali-reportase.blogspot.com/2010/10/huntingtons-disease.html • http://www.medicinenet.com/huntington_disease/discussion-316.htm • http://www.nytimes.com/2007/03/18/health/18huntington.html?pagewanted=all • http://www.mayoclinic.com/health/huntingtons-disease/DS00401/DSECTION=prevention • http://www.ahdansw.asn.au/information/faq_history.html

More Related