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Huntingtons

Disease
Andrs Pea and Mateo Serrano
CMSFQ

Types, Causes, Symptoms, and


more

Contents
What is Huntingtons?........................................................................................................2
History................................................................................................................................2
Types..................................................................................................................................2
Early-onset......................................................................................................................2
Adult-onset.....................................................................................................................2
Late-onset.......................................................................................................................2
Symptoms..........................................................................................................................2
Causes................................................................................................................................3
Treatments.........................................................................................................................3
Psychotherapy................................................................................................................3
Speech therapy...............................................................................................................3
Physical therapy.............................................................................................................3
Occupational therapy.....................................................................................................3
Inheritance.........................................................................................................................3
Other Facts.........................................................................................................................4
References.........................................................................................................................4

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What is Huntingtons?
Huntingtons chorea is an inherited disorder that triggers a gradual collapse of nerve
cells in the brain due to a defective gene in chromosome 4 which replicates the CAG
codon. It frequently causes difficulty in areas of cognitive, motor, and psychiatric
functions. Although it is uncommon for symptoms to appear before 20 years of age, if it
does it is referred to as juvenile or early-onset Huntingtons diseaseotherwise it can be
adult-onset (30 to 40 years of age) or late-onset (50 years or more). There is no cure for
this disease, however there is treatment available for its symptoms (Mayo Foundation
for Medical Education and Research, 2014). The word chorea is used to define the
involuntary muscle movements associated with this disease, although not every
affected individual possesses this symptom.

History
Before its recognition as an inherited disease in 1872, Huntingtons disease was
misunderstood as being possessed by demons and anyone who displayed the
symptoms of HD was promptly executed. This was not common, however, as the
lifespan of anyone who lived before the 20th century was not long enough for HD to fully
express itself. Eventually George Huntington, a 22-year-old doctor, published his paper
On Chorea in a Philadelphian medical journal describing the disease which later came to
be known as Huntingtons chorea. More than a hundred years later in 1993 the gene for
HD was discovered, marking an enormous milestone in its research. Nowadays
thousands of scientists around the world are working to continue research in order to
some day find a cure (Huntington's New South Wales, 2001).

Types
Early-onset

Approximately 10% of Huntingtons cases occur before 20 years of age. This is called
juvenile or early-onset Huntingtons. Although the symptoms of juvenile HD are very
different from adult-onset and late-onset HD, Huntingtons can still not be classified by
its symptoms as they vary greatly from patient to patient. Some unique characteristics
of early-onset HD as opposed to adult-onset are rigidity in movement rather than chorea
and recurrent seizures (Liou, 2010).

Adult-onset

Any onset of HD after the age of 21 is referred to as adult-onset Huntingtons, and


although as with early-onset HD its symptoms vary substantially, it is more common to
see involuntary muscle movements in this type (Cunha, n.d.).

Late-onset
Complications arise when attempting to diagnose this form of Huntingtons which
appears after 60 years of age, as the symptoms of HD may be masked by other health
problems, or the person may not display the severity of symptoms seen in individuals
with HD of earlier onset (Cunha, n.d.). Furthermore, another disorder called senile
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chorea causes the symptoms of HD without the dementia, further making it difficult to
diagnose legitimate Huntingtons (Cunha, n.d.).

Symptoms
Huntingtons disease (HD) has many symptoms. Some effects of this disease are just
small, and you can live with it but other is lethal. There is involuntary movements were
the muscles get contracted, the eye shows slow abnormal movements, difficulty
speaking or swallowing. They have trouble paying attention, learning new information,
and they are slow processing things in their heads, which could affect greatly with
children who have early HD with their education. It also creates a lack of impulse
control. Putting aside the educational part, HD also creates psychological problems;
they fall in depression, feel annoyance, insomnia, feel fatigued in short periods of time
and they have constant thoughts of suicide and death. Finally, HD victims often
symptom bipolarity, mania, and obsessive compulsive disorder.

Causes
Huntingtons is caused by an abnormal repetition of the CAG DNA segment found in the
HTT gene in chromosome 4. It is normal for this segment to repeat a total of 10 to 35
timesif this number is larger then there is a higher chance of showing the symptoms
earlier in life. The HTT gene, responsible for making the huntingtin protein, is defective,
and therefore makes a defective form of huntingtin. Some regions of the human brain
are vulnerable to this form of the protein. This is what causes the symptoms (US
National Library of Medicine, 2015).

Treatments
Various types of treatments are available to suppress the effects of Huntingtons chorea,
however they are not guaranteed to work as they should and in most cases can worsen
the effects of certain symptoms while lessening other symptoms. As well as medication,
it is recommended to engage in some types of therapy in order to manage the
progression of this disease (Medline Plus, 2013).

Psychotherapy

Psychotherapy helps in order to cope with the progression of the disease as it becomes
more and more violent. Therapists can also help to allow patients to communicate more
clearly and effectively with family and friends about their disease (Mayo Foundation for
Medical Education and Research, 2014).

Speech therapy

This therapy is largely self-explanatory: as Huntingtons worsens, several of the muscles


around the mouth and neck become impaired, making it more difficult for patients to
speak clearly. This therapy helps in order to improve their speaking ability (Mayo
Foundation for Medical Education and Research, 2014).

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Physical therapy
Throughout the progression of Huntingtons, several physical abilities are affected:
strength, flexibility, coordination, and balance all worsen. Physical therapy eases the
lives of patients by enhancing these skills (Mayo Foundation for Medical Education and
Research, 2014).x`

Occupational therapy
In order that patients are not required to live with the aid of another person until very
late stages of the disease, it is recommended to install certain devices in their homes to
assist in their daily tasks such as handrails and specialized eating/drinking utensils
(Mayo Foundation for Medical Education and Research, 2014).

Inheritance
Huntingtons disease is autosomal dominant, meaning that the disease is not passed
down through the 23rd (sex) chromosome. Due to this, it is not any more likely for males
or females to inherit the disease. Since it is dominant, having one parent with the
disease gives the child a 50% chance to get the disease, and its symptoms normally do
not present until 30 or 40 years of age (Huntington Society of Canada, 2013).

Other Facts

1 out of every 100,000 people are affected in the United States


Most people with adult-onset HD live up to 25 years after its onset
10% of HD cases are early-onset
30% to 50% of juvenile HD patients suffer recurrent seizures (Schoenstadt, 2013)
The disease itself is not fatal; death is caused by other factors made worse by HD
(Huntington's Disease Society of America, 2015)

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References
Alzheimer's Association. (n.d.). Huntington's Disease. Retrieved from Alzheimer's
Disease and Dementia: http://www.alz.org/dementia/huntingtons-diseasesymptoms.asp
Cunha, J. P. (n.d.). Huntington's Disease: Read About Treatment Options. Retrieved from
MedicineNet: http://www.medicinenet.com/huntington_disease/article.htm
Huntington Society of Canada. (2013). What is Huntington Disease? Retrieved from
Huntington Society of Canada: http://www.huntingtonsociety.ca/learn-abouthd/what-is-huntingtons/
Huntington's Disease Society of America. (2015). What is HD. Retrieved from
Huntington's Disease Society of America: http://www.hdsa.org/about/ourmission/what-is-hd.html
Huntington's New South Wales. (2001). What is the History of Huntington's Disease?
Retrieved from Huntington's New South Wales:
http://www.huntingtonsnsw.org.au/information/hd-facts/history
Liou, S. (2010, June 26). Juvenile Huntington's Disease. Retrieved from Huntington's
Outreach Project for Education, at Stanford:
http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/juvenile-huntingtonsdisease-text-and-audio/
Mayo Foundation for Medical Education and Research. (2014, July 24). Huntington's
Disease Definition. Retrieved from Mayo Clinic:
http://www.mayoclinic.org/diseases-conditions/huntingtonsdisease/basics/definition/con-20030685
Medline Plus. (2013, 5 28). Huntington Disease. Retrieved from Medline Plus Medical
Encyclopedia: http://www.nlm.nih.gov/medlineplus/ency/article/000770.htm
Schoenstadt, A. (2013, October 27). Huntington's Disease Statistics. Retrieved from
Nervous System Home Page: http://nervous-system.emedtv.com/huntington
%27s-disease/huntington%27s-disease-statistics.html
US National LIbrary of Medicine. (2014, 5 5). Autosomal Dominant. Retrieved from
Medline Plus Medical Encyclopedia:
http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm
US National Library of Medicine. (2015, March 2). Huntington Disease. Retrieved from
Genetics Home Reference: http://ghr.nlm.nih.gov/condition/huntington-disease

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