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Huntington's Disease

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Jocey Nelson

on 7 April 2016

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Transcript of Huntington's Disease

Inheritance
Huntington disease is an autosomal dominant disorder.
This means that people only need one copy of the gene to have the disorder.
Thus, there is a 50% chance that adults with the disorder will pass it on to their children.
Overview
Huntington disease is a genetic disorder that results in neurological degeneration and eventual death.
Symptoms
Symptoms associated with Huntington disease usually appear between the ages of 30-50.
Some examples of symptoms would be dystonia (muscle spasms), restlessness, twitching, depression, anxiety, irritability, loss of interest in personal hygiene, loss of balance, slurring words, weightloss, and loss of memory.
Research Outlook
As of right now, fetal stem cell research has looked promising because when scientists inject stem cells into the brain, the stem cells blossom and take place of the brain cells that are dying.
Another promising outlook is that there is the possibility of a new gene silencing technique. This technique may be used to turn off the harmful CAG repeats in the genes of Huntington disease patients.
Extra Information about Huntington disease
Huntington disease was discovered by an Ohio doctor named George Sumner Huntington in 1872.
Huntington disease is located on chromosome 4. It's exact location could be described as 4p16.3.
In the United States, about 1 out of every 30,000 people has Huntington disease.
The protein that the normal huntingtin gene is supposed to make is called the huntingtin protein.
The huntingtin gene can be symbolized by HTT.
Huntington disease
Additional Information
Hereditary Disease Foundation
1303 Pico Boulevard
Santa Monica, CA 90405
(310) 450-9913
e-mail: cures@hdfoundation.org
Website: http://www.hdfoundation.org
Huntington's Disease Society of America
158 West 29th Street, 7th Floor
New York, NY 10001-5300
(800) 345-4372
e-mail: hdsainfo@hdsa.org
Website: http://www.hdsa.org
Centers for Disease Control
and Prevention (CDC)
1600 Clifton Rd.
Atlanta, GA 30333
(800) 232-4636
fax: (770) 488-4760
e-mail: cdcinfo@cdc.gov
Website: http:/cdc.gov
American Academy of Neurology (AAN)
1080 Montreal Ave.
Saint Paul, MN 55116
(651) 695-1940
e-mail: info@aan.com
Website: www.aan.com
Mayo Clinic
200 First St. SW
Rochester, MN 55905
(507) 284-2511
fax: (507) 284-0161
Website: www.mayoclinic.org
National Institute of Neurological
Disorders and Stroke (NINDS)
PO Box 5801
Bethesda, MD 20824
(800) 352-9424 or (301) 496-5751
e-mail: www.ninds.nih.gov/contact_us.htm
Website: www.ninds.nih.gov
Works Cited
"Huntington's Disease."
Huntington's Disease.
Web. 19 Feb. 2014. <http://learn.genetics.utah.edu/content/disorders/singlegene/hunt/>.
"Huntington Disease: What Is It?"
Huntington Disease: What Is It?
Web. 19 Feb. 2014. <http://www.yourgenesyourhealth.org/hd/whatisit.htm>.
"Huntington Disease."
- Genetics Home Reference
. Web. 19 Feb. 2014. <http://ghr.nlm.nih.gov/condition/huntington-disease>.
Naff, Clay Farris.
Huntington's Disease
. Farmington Hills, MI: Greenhaven, 2012. Print.
Knowles, Johanna.
Huntington's Disease
. New York: Rosen Pub. Group, 2007. Print.
Specific Cause
Huntington disease is caused by a CAG repeat in the coding region of the huntingtin gene.
The amount of repeat for someone who doesn't have the disorder is 10-35 times.
The amount of repeat for someone who does have the disorder is usually over 40 times.
Treatment
There is no known cure for Huntington disease as of right now, which means that people who have Huntington disease will most likely die. However, there are ways to help with the symptoms of Huntington disease.
Some examples of how people cope with the symptoms are to exercise and do physical therapy (just to keep moving), do occupational therapy (where they focus on doing everyday things that are important to the client), do psychotherapy (where they focus on the patient's thoughts, feelings, and behavior), take antidepressents (to help with depression), have high calorie diets (for all the random movements they do that burn calories), do speech therapy (to help them stop slurring words), and some other activities as well.
By Jocey Nelson
Full transcript