huntington's presentation script
TRANSCRIPT
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HuntingtonChorea
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What is it?
Huntingtons disease is a dominant genetic disorder which affects
the brain and the central nervous system. This causes progressive
degeneration of cells in the brain which slowly affects a persons
ability to walk, to think, talk and reason.
It was first described in 1872 by George Huntington and Americandoctor who studied a family who were affected by the disease.
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Why?The disease is past through genetics and as it goes down the
family it tends to worsen as the number of repeats in the
DNA increases. This then causes the chance of getting the
disease at an earlier age.
If one of your parents carry the disease then you will have
50% chance of getting the genes for the disease and it willdevelop at some point in your life and it can then be passed
on to your children, but if you do not get the gene, then you
cannot pass it on.
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When?There are two types of Huntingtons. The more commonform is developed in mid 30s and 40s, but this differs from
person to person and gradually it worsens. The less
common form is developed in childhood or Adolescence.
This form is more severe and affects about 5-10 out of 100
people.
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Statistics Huntington's disease affects an estimated 3 to 7 per 100,000 people
of European ancestry. The disorder appears to be less common insome other populations, including African Americans and Japanese.
UK studies have found at least 6-7 people per 100,000 are affectedby Huntington's disease, although this figure could be higher.
In the United States alone, about 30,000 people have Huntington's
disease; estimates of its prevalence are about 1 in every 10,000people.
At least 150,000 others in the US have a 50 percent risk ofdeveloping Huntington's disease, and thousands more of theirrelatives live with the possibility that they, too, might developHuntington's disease.
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Symptoms Behaviour changes may occur before movement problems, and can include:
Behavioural disturbances
Depression Hallucinations
Irritability
Moodiness
Restlessness or fidgeting
Paranoia
Psychosis
Abnormal and unusual movements include: (Involuntary Movements) Facial movements, including grimaces
Head turning to shift eye position
Quick, sudden, sometimes wild jerking movements of the arms, legs, face, and other bodyparts
Slow, uncontrolled movements
Dementia that slowly gets worse, including: Disorientation or confusion
Loss of judgment Loss of memory
Personality changes
Speech changes
Symptoms in children: Rigidity
Slow movements
Tremor
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Treatment There is no cure or prevention for Huntingtons disease, but there is
treatment to lessen the impact of symptoms and scientists are researchingways to slow down the progression of the disease. Some symptoms suchas; depression, mood swings and involuntary movements can bemanaged with medication, however these drugs can have side affects.
(Depression) Anti depressants can be taken, but side affects can be
restlessness and tiredness (Mood Swings) Mood stabilisers can be taken to control irritability. The
dose is slowly increased and any side affects are monitored.
(Involuntary Movements)Antipsychotic medication can be taken tosuppress these movements. These may also help control delussions,hallucinations and violent outbursts, however the drug also causes sideaffects such as stiffness, drowsiness, shaking, slowness of movement.
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Research Basic Neurobiology - Scientists are studying the gene which
cause the HD and how it causes disease in the human body.
Clinical researchScientists are researching potentialtreatments and they will undergo clinical trials in humans.
ImagingTechnology is allowing scientists to understand howthe defective gene affects the brain tissue, body chemistry andmetabolism
Animal testingResearch has been done with mice whichincludes giving the mice a similar disease with the samesymptoms as HD. Studies show that the drugs they used on the
mice slow down the progression of the disease; which couldalso slow down the progression of HD in humans.