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Title: Huntington’s Disease

Name: Baydoun Abir

Date: 12th of January 2011

Course: ENG 251

Section: F

Instructor: Mrs. Mardia Taan

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Abstract

This paper sheds light on one of the most important diseases which is Huntington’s disease

(HD). It’s widely spread around the world but it’s not commonly known among people. Since

science developed and genetics became known, scientists discovered that HD is inherited from

one generation to another which have put the scientists with a big challenge to find cure for such

disease. In addition, this paper provides information about causes, symptoms, inheritance,

treatments & a test for Huntington’s disease. My aim from this research is to introduce such a

disease for people, to make it familiar to them & to prepare them to know how to deal with it

once they face it.

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Huntington’s disease

 Introduction:-

Diseases are the serious problems that the world is facing, not from nowadays but from the old
centuries. Now, scientists have discovered hundreds of diseases, some of them are simple and
others are fatal. Also, as the science developed and genetics became known, scientists discovered
that many diseases are inherited from one generation to another which have put the scientists
with a big challenge to find cure for such diseases. One of these diseases is called "Huntington's
disease".

 What is Huntington's disease?

Area of the brain damaged by HD (shown in purple)

Huntington's disease is a brain disorder, mainly affecting the brain

and spinal cord that destroys cells in the part of the brain that controls
movement, emotion, and thought process. This part of the brain is
called the basal ganglia. Moreover, Huntington's disease is a
hereditary disease, which means that it is inherited from one
.generation to another

In 1872, Dr. Georges Huntington became the first to publish a

In the past detailed description of the disease that has become linked with his name.
there were many names for Huntington’s disease. One of its earliest names was "Chorea"
(uncontrollable movements).Other descriptive names were evolved: "Hereditary chorea" which
emphasizes how the disease is passed from parent to child and "Chronic progressive chorea"
which shows how the symptoms of the disease worsen over time. Today, physicians are using
.the simple term "Huntington's disease" (HD)

.In general, the duration of the illness ranges from 10 to 30 years

Population Estimated Used Extrapolated Prevalence Country/Region

3,777,2182 113 Lebanon

What causes Huntington's disease?

Huntington's disease is caused by a mutation in a gene on

chromosome 4. It is caused by the length of a repeated section
of a gene exceeding the normal range. The Huntingtin gene
(HTT) normally provides the information to produce
Huntingtin protein, but when affected, it produces mutant
Huntingtin (mHTT) instead.
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THuntingtin Protein that causes problems leading to

Huntington's disease is located on chromosome 4.

 Symptoms:-

Symptoms of Huntington's disease occur gradually and can start

at any age, but it is more common to show in a person in his mid-
forties. The disease is usually recognized when physical symptoms
occur, but at this point they are usually accompanied by
unrecognized cognitive symptoms which refer to brain processes
such as thinking, attention, perception, etc…, and psychiatric ones.

Almost everyone with Huntington's disease eventually exhibits

all physical symptoms, but cognitive and psychiatric symptoms
can vary significantly among individuals.

- Physical Symptoms:-

The most characteristic physical symptoms are jerky, random, and chorea (uncontrollable
movements).

As the disease progresses, any function that requires muscle control is affected, causing
physical instability, abnormal facial expression, difficulties in chewing, swallowing, and eating
difficulties which commonly cause weight loss and may lead to malnutrition. Also, it can lead to
sleep cycle disturbances, including insomnia, which means difficulty in falling or staying asleep,
and rapid eye movement. HD in children and young adults results more in very slow movements,
stiffness and seizure which is an uncontrolled electrical activity in the brain.

- Cognitive Symptoms:-

Cognitive problems including planning, cognitive flexibility, abstract thinking, initiating

appropriate actions and inhibiting inappropriate actions. Psychomotor function which controls
muscles, perception skills that have relation with senses, are also affected. As the disease
progresses, memory loss occurs in a range from short term memory loss to long term memory
loss. In some cases, memories of the individual's life are altered or forgotten.

- Psychiatric Symptoms:-

Psychiatric symptoms can vary from anxiety, depression, a reduced display of

emotions, aggression, and obsession, which can cause or worsen addictions,
including alcoholism and hyper sexuality. Difficulties in recognizing other people’s negative
expressions have also been observed.
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The earlier the symptoms appear, the faster the disease progresses. But as symptoms progress
complications that reduce life expectancy increase.

 Inheritance of HD:-

Huntington's disease is inherited in an autosomal

dominant pattern. This means that every child born to
a person, who has HD, regardless of gender, has a
50% chance of inheriting the gene that causes HD.
Men and women are equally affected, so that either
parent may pass on the HD gene to any offspring. But
it is important to mention that Huntington's disease is
not fatal. 

 Test for Huntington's disease:-

If you do not have symptoms of Huntington's you can get a genetic screening, but this is usually
not necessary if the symptoms of the disease are present and you are genetically at risk. Screening
for Huntington's disease consists of administering this genetic test to people who do not have
symptoms of the disease. Using a blood sample, the Huntington's disease genetic test analyzes DNA
for the Huntington's disease mutation by counting the number of CAG repeats in the Huntingtin
gene. Individuals who do not have HD usually have 28 or fewer repeats; people with Huntington's
disease usually have 40 or more repeats.

Resulting disease status, depends on the number of CAG repeats

Disease status Classification Repeats count

Unaffected Normal 28<

Unaffected Intermediate 35–28

Affected -/+ Reduced Entrance 40–36

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Affected Full Entrance 40>

 Huntington's disease treatment:-

There is no cure for HD yet. Scientists are still looking

for one, but there are many different treatments available.
Huntington's disease treatment focuses on controlling the
emotional and movement problems associated with the
disorder. Treatment for Huntington's disease also focuses
on providing care to make living with the disorder easier.
There are also different prescription drugs that may be
given to a diagnosed person including haloperidol,
clonazepam, and some anti-depressants, but these drugs
usually have side effects including fatigue, restlessness, and
hyper excitability.

 Conclusion:-

Even though there are many treatments and there have

been many different tests done to try and cure the disease,
HD cannot be prevented if you are at risk if Huntington's
disease get tested or screened. If the test is negative you don't have to worry, but if the results are
positive you have to prepare yourself for the challenges you will be facing later in your life.

 Experience:-

We’ve met Dr. Khodor Siklawi (Neurologist) and asked him about the disease, he said:-
“Huntington’s disease is one of the most important diseases in the world but unfortunately
people don’t know about it. In Lebanon, there are people affected by Huntington’s disease but
their number is much fewer than people who are affected by other common diseases. Once I
faced an experience with a 45-year old man, his family said that he was having difficulty in
doing things by himself like eating, walking normally etc.. and memory loss, and after I studied
his case from all sides I discovered that he was suffering from Huntington’s disease but I
couldn’t cure him since there is no cure for this disease, all I did was that I gave him some drugs
to settle down the symptoms that he was suffering from and I told his family to take care of him
and help him with his needs because he needed so. Unfortunately, after 5 years this person died.”
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Best regards

 References:-
- National Institute of Neurological Disorders and Stroke.

- Websites:-

- www.medicinenet.com/Huntington's disease
- www.ehow.com
- www.emeritus.com
- www.searchmedica.co.uk
- www.huntingtons.ie/links.html
- www.emedicinehealth.com

- Books:-

- Clinical genetics handbook 2nd edition.

- Huntington's disease Edited by Peter S. Harper.
- Huntington's disease by David M. Lawrence.