-George Huntington who first called the disease “hereditary chorea” discovered Huntington’s disease. Huntington’s disease was found in 1872. The word Chorea is Greek and it means dance. The reference, Chorea, was given because of the involuntary movements that occur to the body. -The disease affects the nerve cells in the brain. Currently only a couple medications are available to help with some of the symptoms (Shannon, 2009).
- The brain cells are sensitive to the larger form of Huntington and will destroy them, although scientists do not know how this happens.
-Pictures of the chromosome. The longer the “tail” on chromosome 4 the more time the CAG is repeated. -James F. Gusella and colleagues studied for years to find the gene for HD and to understand what they were looking for . “It was so long and so weird,” says MacDonald (pg a17), an associate professor of neurology at the Harvard Medical School. They discovered the gene five years prior but did not know much more about the gene.
-If the child inherits the good copy he or she will not develop Huntington’s disease, where as their sibling, who has inherited the faulty gene will develop the disease. -In some cases there may be a new error in the gene - a mutation (it has to start somewhere) (Medical News, 2009).
- CAG is the genetic code for the amino acid glutamine . The more times the code the repeated the higher chance one has inheriting the disease. Graph retrieved from http://en. wikipedia .org/ wiki /Huntington's_disease
- Although most people with HD generally have good appetites, the muscles in the mouth and the diaphragm may not work properly, making the whole experience of eating seem cumbersome, frustrating and messy.
- Choking tends to occur more when the liquid is thin, like water. During the later stages choking becomes a major concern.
A psychiatric evaluation most likely will be recommended (Medical News, 2009). - If a person is diagnosed with the disease (which can only be done when the patient is 18) there is no way to predict when the disease sets in or how serious the symptoms will be.
The disease causes involuntary movements and jerking or twitching as well as problems swallowing, speaking, and memory (Shannon, 2009). Huntington’s Disease is a very progressive brain disease. There are only a handful of other diseases that cause as many interrelated disabilities.
- There are many challenges that are caused by HD, which include forgetfulness and disorganization. Therapy teaches a person to use short sentences, break tasks down into small steps, offer limited choices, have a daily routine and stick to simple to do lists and tasks.
- Repetitive tasks can help in remembering daily tasks and learning new ones can help as well but often times recalling new information can be hard to remember on their own. Time is also a challenge, as a person’s sense of time does not register (Duff, 2009).
- Knowing or not knowing greatly impacted being able to go on with their lives, such as school, career, personal health and investments (Hagberg, 2011).
My own personal hopes is that enough trials and experiments will be done so that 30 years from now there will be a drug that will severely slow down the symptoms and give a person facing the disease a chance to live a full and healthy life. It is an inevitable disease with no cure and not much treatment. The evidence shows us that there is much to learn, as the gene was only found 1993, and there is still testing and trials being conducted.
Huntingtons Disease Melissa Thomas Psy492
Huntington's Disease Melissa Thomas Advance General Psychology PSY492 Argosy University, Twin Cities, MN Instructor: Dr. Harris
Hypothesis <ul><li>Huntington’s disease (HD) is a hereditary brain disorder. This disorder affects movement, speech, emotions, and behavior, thought processes, reason and is degenerative. HD can affect anyone from any gender or race. One out of 10,000 people in the United States will get the disease and as many as 30,000 people have been diagnosed with the disease. There are as many as 200,000 people who are at risk for inheriting HD (Shannon, 2009). </li></ul>
Origin <ul><li>Huntington’s Disease is found on chromosome four, a normal gene will have 23 pairs of chromosomes a person with the disease will have a larger amount of the copy resulting in an abnormal gene. According to Medical News (2009), </li></ul><ul><ul><ul><li>Johns Hopkins brain scientists have figured out why a faulty protein accumulates in cells everywhere in the bodies of people with Huntington's disease, but only kills cells in the part of the brain that controls movement, causing negligible damage to tissues elsewhere. The answer lies in one tiny protein called “Rhes” that’s found only in the part of the brain that controls movement. </li></ul></ul></ul>
<ul><li>With Huntington’s disease one copy of the gene is faulty, because each parent passes his or her genes to their offspring each child will inherit either the good copy or the faulty one. Their children (should they have any) will have that same 50/50 chance of inheriting the faulty gene. </li></ul><ul><li>Three percent of people with Huntington's disease apparently have no family history of it. Some of them were adopted and never knew whether their parents had it. Others may have had a parent with the faulty gene who died from something else before reaching the age when symptoms would have emerged. </li></ul>
<ul><li>The disease sets in after the patients 30s and persons with HD usually pass within 10 to 20 years. Along with the inevitable death people with the disease also have to suffer through jerky body movements, slurred speech, clumsiness, forgetfulness, and total loss of the mind and body (Wheeler, 1999). </li></ul>Classification of the trinucleotide repeat, and resulting disease status, depends on the number of CAG repeats Repeat count Classification Disease status <28 Normal Unaffected 28–35 Intermediate Unaffected 36–40 Reduced Penetrance +/- Affected >40 Full Penetrance Affected
Symptoms of Huntington’s Disease <ul><li>Physical changes not including uncontrollable movements . </li></ul><ul><li>Difficulty in speech - individuals with Huntington's have problems putting thoughts into words and slur their speech. </li></ul><ul><li>Weight loss - often a cause of complications because the patient becomes weaker. </li></ul><ul><li>Feeding problems - as coordination gets worse the person with HD may spill and drop food. </li></ul>
<ul><li>Swallowing difficulties get gradually worse - choking on food and drink. Uncontrollable movements . </li></ul><ul><li>Uncontrollable movements of the face. </li></ul><ul><li>Jerking of parts of the face and the head. </li></ul><ul><li>Flicking or fidgety movements of the arms, legs and body. </li></ul><ul><li>Lurching and stumbling - caused when movements move from one area of the body to another. </li></ul>
Diagnosing Huntington’s Disease <ul><li>If there is a family history of the disease genetic testing can be done to see if the person carries the faulty gene. Genetic counseling is required as this is a life-changing and terminal diagnosis. </li></ul><ul><li>Other forms of diagnosing the disease are to have a CT (computerized tomography) scan done to measure the patient’s brainwaves. </li></ul>
Treatment <ul><li>There are no treatments to slow the disease down however there are treatments and therapy available to help those with the disease to cope and live more comfortable. </li></ul><ul><li>The disease itself can be painful as it causes rigidity, uncoordinated movements, unstable gait, and slowness. Physical therapy, medication, speech/language therapy, and occupational therapy are available. </li></ul>
Daily Living Emotions <ul><li>There are many emotional changes that take place within the individual as well as the family members witnessing the deterioration of a loved one suffering from HD. These emotional behaviors can be sporadic or consistent (Medical News, 2009). </li></ul><ul><li>Aggression. </li></ul><ul><li>Anger. </li></ul><ul><li>Antisocial behavior. </li></ul><ul><li>Apathy. </li></ul>
Daily Living Emotions <ul><li>Depression. </li></ul><ul><li>Excitement. </li></ul><ul><li>Frustration. </li></ul><ul><li>Lack of emotion becomes more apparent. </li></ul><ul><li>Moodiness. </li></ul><ul><li>Stubbornness. </li></ul>
Long Term Effects <ul><li>Over the course of 10 years interviews were conducted to explore the long-term effects of being a carrier. There is a broad range of both positive and negative impact. </li></ul><ul><li>Most individuals had a greater appreciation for life and tended to keep in closer contact with their families. </li></ul><ul><li>Many regret not knowing and it took a toll on their psychological well-being . </li></ul>
Conclusion <ul><li>Huntington’s Disease is devastating not only for the person with the disease but also for the family members who have been tested and those who have not been tested. The emotional impact of the disease is a lifelong struggle. </li></ul>
Reference <ul><li>Duff, K., Ph.D (2009). Cognition and Huntington’s Disease. Carver College of Medicine, University of Iowa. </li></ul><ul><li>Hagberg, A., Bui, T. ; Winnberg, E. Journal of Genetic Counseling 20.1 (2011). More appreciation of life or Regretting the Test? Pg 70-79. </li></ul><ul><li>Luntz, S. (2008) Exercise Staves Off Huntington's Disease. Australasian Science 29. 2 : </li></ul><ul><li>Medical News (2009) Retrieved from. </li></ul><ul><li> http://www. medicalnewstoday .com/articles/159552. php . </li></ul><ul><li>Shannon, K., M.D. (2009) HDSA Vented of Excellence at Rush University. Medical. </li></ul><ul><li>Center. </li></ul><ul><li>Shannon, K., M.D., Herschel, S., M.D., Ph.D (2009). Huntington’s Disease. HDSA; A Family Guide. </li></ul><ul><li>Wheeler, D. Geneticists near end quest for source of a deadly disease (1999). The Chronicle of Higher Education pg a17. </li></ul><ul><li> . </li></ul>