Huntingtons Disease Melissa Thomas Psy492

04/13/23 Melissa Thomas 1

Huntington's Disease

Melissa ThomasAdvance General Psychology PSY492

Argosy University, Twin Cities, MN

Instructor: Dr. Harris


Hypothesis• 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).


Origin • 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),

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.


Pictures of Mutated Chromosome 4


• 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.

• 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.


• 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).

Classification of the trinucleotide repeat, and resulting disease status, depends on the number of CAG repeats

Repeat count

ClassificationDisease status

<28 Normal Unaffected

28–35 Intermediate Unaffected

36–40Reduced Penetrance

+/- Affected

>40Full Penetrance

Affected


Symptoms of Huntington’s Disease

• Physical changes not including uncontrollable movements .

• Difficulty in speech - individuals with Huntington's have problems putting thoughts into words and slur their speech.

• Weight loss - often a cause of complications because the patient becomes weaker.

• Feeding problems - as coordination gets worse the person with HD may spill and drop food.


• Swallowing difficulties get gradually worse - choking on food and drink. Uncontrollable movements .

• Uncontrollable movements of the face.• Jerking of parts of the face and the head.• Flicking or fidgety movements of the arms, legs

and body.• Lurching and stumbling - caused when

movements move from one area of the body to another.


Diagnosing Huntington’s Disease

• 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.

• Other forms of diagnosing the disease are to have a CT (computerized tomography) scan done to measure the patient’s brainwaves.


Treatment

• 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.

• 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.


Daily Living Emotions• 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).

• Aggression.

• Anger.

• Antisocial behavior.

• Apathy.


Daily Living Emotions• Depression.

• Excitement.

• Frustration.

• Lack of emotion becomes more apparent.

• Moodiness.

• Stubbornness.


Long Term Effects

• 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.

• Most individuals had a greater appreciation for life and tended to keep in closer contact with their families.

• Many regret not knowing and it took a toll on their psychological well-being.


Conclusion

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.


ReferenceDuff, K., Ph.D (2009). Cognition and Huntington’s Disease. Carver College of Medicine, University of Iowa.

Hagberg, A., Bui, T. ; Winnberg, E. Journal of Genetic Counseling 20.1 (2011). More appreciation of life or Regretting the Test? Pg 70-79.

Luntz, S. (2008) Exercise Staves Off Huntington's Disease. Australasian Science29. 2:

Medical News (2009) Retrieved from.

http://www.medicalnewstoday.com/articles/159552.php.

Shannon, K., M.D. (2009) HDSA Vented of Excellence at Rush University. Medical.

Center.

Shannon, K., M.D., Herschel, S., M.D., Ph.D (2009). Huntington’s Disease. HDSA; A Family Guide.

Wheeler, D. Geneticists near end quest for source of a deadly disease (1999). The Chronicle of Higher Education pg a17.

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Huntingtons Disease Melissa Thomas Psy492

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