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Patient 6: Susan

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by

marisa porras

on 22 May 2014

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Transcript of Patient 6: Susan

Runs its full terminal course in 15-20 years
Cause of death usually infection
Suicide is also common
Disease affects everyone different
Number of CAG repeats determine how serious the symptoms are.
Patients with few repeats may have mild abnormal movements.
People with a larger amount of repeats in their DNA may be severely affected at a young age.

The Situation
Huntington's Disease
Communication Error
Susan's Symptoms
Mood Swings
Depression
Involuntary Movements
Clumsiness
Forgetfulness
Bruise Easily
Susan
Patient #6- Susan, a 35 year-old teacher, has been referred to you from a psychologist who works in your building. She was being treated for depression and mild mood swings, but now that she has started having physical symptoms, the psychologist thinks she needs a neurology consult. Obviously nervous, Susan says, “You might think I am crazy, but sometimes my hands and feet just seem to move on their own, kind of like they are dancing.” She goes on to say that she remembers her mother experiencing the same thing a few weeks before she died. Sadly, her mother was killed in a car crash before the doctors could ever explore her symptoms. Other than the limb movement, Susan has noticed that she seems to be forgetting little details at work. She has a few bruises on her legs. When asked about them, she tells you that she has been a bit clumsy lately and seems to fall down more than she used to.
Diagnosis
Susan Diagnosis is Huntington's disease.

Susan age correlate with the appropriate time for symptoms to appear

Her mother possibly had Huntington disease, but it was never diagnosis.

Loss of muscle function

Emotional instability
What is Huntington's
Disease?
A genetic disordered on the 4th chromosome. That affects brain functions. The nerve cells become damaged to where the brain begins to deteriorate.When the brain deteriorates the person will lose vital functions that are needed to complete every day tasks as walking .
This disease is caused by a genetic defect. You have a 50% chance to get this disease if one of your parents have this.
What Causes Huntington's Disease?
Prognosis
How the brain is affected
What areas of the brain is affected?
How the Brain is affected
A defective Huntington protein makes brain changes:
Abnormal involuntary movement
major decrease involving thinking and reasoning skills
Mood Swings such as irritability and depression

Some patients loose 25% of their brain cells before they die.
Patient 6: Susan
What Causes Huntington's Disease?
Mutations in the HTT gene is to blame for this disease. The HTT gene involves a DNA segment known as CAG trinucleotide. Normally the CAG segment is 10-35 within this genes; however, in a patient with Huntington's disease this process is repeated 36 to over 120 times.
By: Marisa,Courtany, Braden, Rachael
What Causes Huntington's Disease?
Increased size of the CAG segment causes production of a long version of the Huntington protein. The protein is cut into smaller, eventually lethal fragments that combine together and clump together in neurons, disrupting the normal functions of these cells. The eventual death of neurons in particular areas of the brain house the signs and symptoms of Huntington disease
The brain cells of Huntington's Disease patients accumulate clumps of protein that become toxic resulting in cell death.
Work Cited
http://ghr.nlm.nih.gov/condition/huntington-disease
http://www.huntingtons.org.nz/res_news_2a.php
http://learn.genetics.utah.edu/content/disorders/whataregd/hunt/
http://www.caringvoice.org/2012/01/meghans-story/
How is it Diagnosed???
Treatment of Huntington's
Huntington's Disease is incurable, but there is many medicine that can be taken to ease some of the symptoms from depression and anxiety .
Therapy can also be used to keep some mobility like speech .
Brain-imaging tests
MRI
CT
Electroencephalogram
record electrical activity
psychiatric examinations
Emotional state
Pattern of behaviors
judgement
thinking disorder
Neurological evaluation
reflexes
Muscle reactions and strength
hearing
balance
http://www.nlm.nih.gov/medlineplus/ency/article/000770.htm

http://www.mayoclinic.com/health/huntingtons-disease/DS00401/DSECTION=tests-and-diagnosis
Living with Huntington's Disease
Living with HD is a struggle from day to day
depending on how far the disease has progressed you may need help preforming daily task
showering
eating
changing
Basal ganglia
movement
Emotional activities

Frontal lobes
Emotions
Judgement
Empathy

Temporal Lobes
long term memory
Speech
Stimuli of eye and ears
Some different doctors include:
A neurologist, psychologist and a genetic
specialist or counselor.
Full transcript