Genetic Disorders: 7th Grade
 
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Huntington's Disease - Kylie


 
 
By: Kylie Carlson
 

If a word is highlighted, you can look for it in the vocabulary section. 
 
DESCRIPTION
 
What is it and why does it do these things to you?: Huntington's disease, or HD, is a disorder where the nerve cells in your brain called neurons, start to fall apart, or degenerate. The degeneration causes uncontrolled movements and trouble remembering and learning new things. The thing that is most affected is the basal ganglia, which helps you perform the functions you need. This is because they have a mutated chromosome 4, which will have HD on it, and have to many repeats of CAG in their DNA. CAG is one three letter code that makes glutamine amino acids and having too much of it is part of what causes Huntington's disease. [10]
 CAG reapeats  What will happen, or outcome?
 28 and less repeats  Person will not have HD
 29-34 repeats  Person will not have HD, but next generation is at risk
 35-39 repeats  Some, but not all will have HD, but next generation is at risk
 40 or more repeats  Person will have HD
How can it affect you?: What does Huntington's disease do to people that have it?  For adults, which appears around middle age:
  •      The disease starts with uncontrolled movements in the face, feet, neck, jaw, and fingers. These movements may get more serious if the person with the disease starts to get anxious.
  •     Also, they can be clumsy or unstable, but as this disorder progresses they might stumble, have a hard time walking, and are more likely to fall. 
  • It can cause people to lose some of their ability to think, which also includes memory loss.
  • Other things are depression and have mood swings. The mood swings may decrease or become even more serious.
  •  Other things that the victims of this disease may suffer from are having trouble learning new things or doing everyday activities like driving. 
  • As these symptoms increase you may notice a difference in personality.
  •  This disease can even get as bad as slurred words and simple things like walking, eating, swallowing, and other functions may get worse.
  • In addition, they can start to forget family members. Others can still recognize their surroundings and can express their emotions.
  • The disease may last from 10 to 30 years.

    For kids, under the age of twenty:

  • They can stop doing so well in school, their hand-writing gets worse, and may twitch.
  • It can also cause seizures and mental disabilities.
  • It goes on faster the younger they are when the disease starts to develop and may last only ten years before death, but the most common signs of death are infections, injuries from falls that may have occurred, and other complications. [1]
[2]In this image it shows the brain and what is affected. The Caudate Nucleus shrinks during Huntington's disease and the Putamen is what helps motor the brain. 
 
What are the chances?: The chances of someone getting Huntington's Disease globally, is 7 in 100,000 and in the United States the chances are 1 in 10,000. They say that more that 15,000 Americans have this disease. It is rare, but it can happen and it will.
 
What do they look like and can you even tell?: A person with Huntington's Disease may look like anyone else, but you might be able to tell if you see how they act like how the walk or eat and even then you may not be able to notice. Close friends and family members are usually first to recognize if a person has this disease. This is because the symptoms and effects Huntington's disease are things like mood swings and they may not have them all the time or in public. People you see often walking down the street may have this disease, but only people close to them would really know.
 
Is there an environmental factors to help or hurt this disease?: The environmental factors that may have an affect on Huntington's disease are in some drugs that may be able to delay the process of this disease and maybe even expand a normal lifespan, but this still may not completely stop Huntington's disease.
 
FATAL!: Huntington's disease will kill. Since the signs show up around the ages of 30 and 50, or after 20, it will cause death around after 10 to 30 years, but for children with the disease may only last 10 years before death. It is a very serious condition!
 
 
TREATMENT
 
    There are tests to help you find out if you are infected by Huntington's Disease. These tests can be used if the family members had Huntington's disease, but the offspring hasn't had any symptoms of having this disease. People can only be tested if they have a parent to test with them to compare. For example, an orphan, or adopted child, or a person with not many family members left may not be able to be tested.
 
Is there a treatment? How effective is it? What is used for the treatment?: Unfortunately for people with Huntington's Disease, there is no cure to it. However, some drugs a doctor can give the person, may  help tame the effects this disease has. Things like Antipsycotic drugs like haloperidol, and others such as clonasepam can help lesson the uncontrolled movements and emotional outbursts. You must know that antipsycotic drugs will not help any other type of muscle contraction involved with Huntington's Disease, in fact, it may worsen the condition and cause the person to be more stiff. Other drugs such as fluoxetine, sertaline, and nortiptyline can be used to treat depression. In addition, tranquilizers can help with severe mood swings to relax and calm down this effect. Other medications may be necessary for certain individuals.
[3] This is a image of someone getting a treatment.

Side Effects?: The side effects of taking antipsycotic is you may not have much emotion anymore. Because of this, it is best to take as little as possible each time. Also, some drugs may create restlessness, or over excitement. Symptoms may be similar to side effects, so it is important to be careful and not give a person the wrong medication.

The Sad, but True Story

This video was created by a woman named Sue Wright and she is working with many foundations that will help us find the cure to Huntington's Disease. At the end of this video there is pictures of people who were killed from HD, or Huntington's disease. This video was found on YouTube, because of this some people may not be able to watch it, if there program blocks this site. [6]
 
    
RESEARCH
WHAT IS BEING DONE?
 
What are people doing and what organizations?: In 1960's the Committee to Combat Huntington's Disease and the Huntington's Chorea  Foundation, which later became the Heredity Disease Foundation was to raise funds for research and federal funding. In 1977, Congress created Commission for the Control on Huntington's Disease and its Consequences which made a series of recommendations, from now on Congress has support for more research to be made.
  

This is a logo for one of the Huntington's Disease Foundations [7]

What kind of research is being done?: The kind of research that is being done is Intrabody Therapy, Gene Silencing, and other things like Stem Plant Implants and most of them involve animal modeling to test new ideas. When testing these types of research they are being kind of cruel to animals. You see, scientists have been trying to test animals like monkeys and mice, but realized that they have a different progressing features, therefore they wouldn't do the same thing that they do to humans. They decided to insert more CAG in fruit flies and in mice, also worms made a good model as well. They used the fruit flies and added a fragment of intrabodies that had showed some therapeutic results. Without this, 77% of them died and when used on adults they have been able to expand their life. Also, using they have tried to reduce the about of the extra gene, but are having trouble taking it all out. However, using the stem plants would have to be an ongoing treatment. This is because they use them to replace the damaged neutrons in the brain, but this will not stop them from keep getting destroyed, so they would have to keep replacing the neutrons. Using them is a way to test new things, but it is not very fair to the poor animals.
   There are also some of the other things that they are researching are:
  • Clinical Research: They are trying to understand more what cause the symptoms and effects and trying to make new therapeutic discoveries. The people that are working on this are Neurologists, psychologists, psychiatrists, and other investigators.
  • Imaging: Scientists are trying to uncover what defective gene is causing the problems in the brain and what it is really doing to the body

     


CURRENT EVENTS
 
 
What is the latest development?: Scientists have discovered that the reason for the motor in the brain to break down, which causes Huntington's disease, could happen because the thing that lets the brain regions communicate may be breaking down themselves. This will occur before the patient is diagnosed. 
 
Exciting news?: People have discovered compound blocks, transaminase also known as TGM2, that will block of activity of brain damage. Unfortunately, this may only work for Huntington's-like diseases. Also, it may cause blood clotting outside of the cell, but if it occurs inside the cell, they could be at a great risk. Another discovery that has some better news was found by using animal models. Scientists have found that when mice were running on their wheel they have delayed some of the appearances of symptoms. However, for humans it is better to not only perform physical exercises, but also mental exercises and sensory stimulation. This can also help before figuring out that they are diagnosed with Huntington's disease.
 
Pieces of writing: One article written at Medical News and does not have a specific source. In their most recent article (December 11, 2008) they state that they have found many connections between different disorders also connections within the body. They have discovered that a molecule is suppressing certain communications between nerves and they may be able to create a medication or a therapy to stop this from happening. Learn more at: http://www.medicalnewstoday.com/articles/132693.php.
            Another article that was published on July 14, 2008, talks about where Huntington's disease starts. Most people believed that it originates in the brain, but a British group believe that it starts in protein in blood more than a decade before Huntington's disease usually shows up. It is also possible that it could create it to attack the whole body. To read and found out more, go to http://esciencenews.com/articles/2008/07/14/huntingtons.disease.catching.it.early
        
  
This image is showing a neuron that is lonely because
 they are all degenerating from Huntington's Disease [8]





GENETICS
 
What is happening?: Mutation is how people get Huntington's disease, when one of the genes from the parent changes in the process of replicating. If the child is younger when they get the disease they most likely inherited it from the father and had the most repeats of the wrong item in their DNA. This "wrong item," is the mutated chromosome 4. If a person has forty or more repeating parts of DNA, they will get HD. If a parent has Huntington's disease, the child has a 50-50 chance of getting the disorder. Above under the section of Treatment, there is a video explaining more about this.


Here is a diagram of a girl name Katharine and her family. This image shows how Huntington's Disease can be passed down and how getting tested may help tell you if you have this disease or not.
[4]
 

Punnent Squares: These are some punnent squares that I made showing the chances of a child inheriting Huntington's disease based on their parents. This process of making the punnent squares can be used for this disorder because it is controlled by one gene.

This image was created by myself, Kylie Carlson:

 
 
A DAY IN THE LIFE
 
What is life like for people with Huntington's?: People with Huntington's disease live life like anyone else. This is because Huntington's Disease symptoms usually don't show up until later in someone's life, (this is said above in "Description"). When they do start to show the effects then they may forget who they are related to and many other things listed in "Description". However, if a child has Huntington's disease as a kid, then there life be a little different. The child may be make fun of because they can't learn as well as the other kids or their handwriting gets a lot worse. Also they may get seizures. 
 

A typical day for a kid with Huntington's disease: A typical day for a kid would be the same as anyone else, except they may take some tranquilizers to calm down and sometimes even muscle therapy may help to control the uncontrolled movements. Everything else would be the same, but their teacher may talk to them more slowly and try to help with writing more neater. Also, during lunchtime someone may help them eat smaller bites if they have swallowing problems. Other than that it would be normal, they may even be home schooled so that they can get the more help that they might need.

 

A typical day for an adult with Huntington's disease: For adults, a typical day may be just like any others. They would go to work maybe even have a family, because they wouldn't know that they even had the disease if they weren't tested. After they effects started to kick in, they may take drugs to help control themselves. They also may want to get their child (if they have one) tested to see if their child has it as well.

 

How people with Huntington's Disease feel: I found an article of one person talking about how they felt about having Huntington's disease. This man's (did not mention a name) mother had the disease and here is a quote from it,"The doctor's words echo: 'You have your mother's gene for HD.' Stunned, I fell into a fog of acceptance, denial, and defiance." This quote shows how many things were going on in his head. Also, his wife was pregnant and so they wanted to find out if their child would have it as well. Later in this story they figured out that the child did not have the disorder. This story is from: Nance, Martha. "An Uncertain Journey Along the Genetic Trail." washingtonpost.com - nation, world, technology and Washington area news and headlines. 12 Sep. 2005. 15 Jan. 2009 <http://www.washingtonpost.com/wp-dyn/content/article/2005/09/23/AR2005092302372.html>.

 

How to deal with People with Huntington's: I found a page about how  people who don't have the disease, but have someone in the family have it. It talked about how they may be very sad if they don't have someone to talk to that can understand what they are saying. However, I felt that it was strange how they talked about their feelings while they knew someone who knew that they were going to die. It almost seemed kind of selfish, but I can understand how they feel pain losing them. Miller, Jean E.. "Message For Young People." Huntington's Disease Support Information. 14 Jan. 2009 http://endoflifecare.tripod.com/livingwithhd/id20.html.

 

This chart and the information below shows how to deal with someone with Huntington's disease. [5]
"

Problem          

 Strategy

Poor orientation to time and place
  • Keep a large calendar visible.
  • Display a large, visible clock.
  • Post signs on walls stating location.

Diminished memory
  • Post a schedule of daily routine.
  • Establish routines for all activities (e.g., place keys or glasses in same place daily).
  • Label cabinets and drawers.
  • Keep a memory log book like a diary in which the person with HD can write down and refer back to what he/she has done, with whom, and when.
  • Keep an appointment book for social events, doctor's visits, and other dates and occasions to be remembered.

Reduced problem-solving ability
  • The person with HD should discuss with a family member possible problems that could occur in the home. Solutions or steps to be followed should be anticipated, written down, and kept in an obvious place.
  • Follow these set guidelines for problem solving.

Although alternative methods of communication are available, people with HD generally prefer to attempt verbal communication for as long as possible, even if their speech becomes hard to understand. The SLP and family members can often help by encouraging the speaker to:

  • Speak more slowly
  • Say one word at a time
  • Repeat the word or sentence when necessary
  • Rephrase the sentence
  • Exaggerate the sounds
  • Speak louder (taking a deep breath before speaking)
  • Describe what hoer she is trying to say if he or she can' t think of the word
  • Indicate the first letter of the word
  • Use gestures
  • Keep sentences short
  • Use alternative techniques such as word boards, alphabet boards, picture boards, or electronic devices

The following are some suggestions for the listener:

  • Eliminate distractions (TV's, radio, large groups of people)
  • Keep questions/statements simple
  • Ask one question at a time
  • Use yes/no question format as much as possible
  • Pay attention to gestures and facial expressions/changes
  • If you do not understand what is being said, don't pretend that you do. Ask for clarification, or repeat what you think was said in the form of a question, such as, "Did you say...?"
  • Try to keep to familiar topics
  • Encourage the speaker to use his/her specific compensatory strategies
  • Allow enough time for the person to convey his/her message
  • Most important, be patient with the speaker

How can I help someone with Huntington's disease who is having swallowing problems?

You can help by following these suggestions:

  • Provide small bites and sips.
  • Alternate bites with sips to help wash down the food.
  • Make sure that the person is sitting as upright as possible; place pillow behind his or her head/neck to prevent head tilting backward.
  • Control rate of intake, allowing enough time for previous bite/sip to be cleared. Look for rise and fall of larynx (Adam's apple), or lightly place two fingers on the person' s Adam's apple to feel it rise and fall, as a possible signal that swallowing is complete.
  • Make sure the person swallows twice for every bite or sip to clear residuals from the mouth.
  • Use gravies, sauces, and condiments with dry foods or solids whenever possible.
  • Crush medications in applesauce if a person is on a pureed (blenderized) diet.
  • Avoid distractions during oral intake.  
  • Do not permit talking with food in the mouth.
  • If the person is coughing a lot or showing other signs of swallowing problems, begin giving thicker liquids such as nectars, shakes, and tomato juice. Also, give blenderized food until the person can be seen by the physician and/or speech-language pathologist. Further recommendations would follow a complete assessment.
  • Tell the person to produce a strong cough after each swallow (if voice sounds gurgly or wet).
  • Limit quantity of food placed on plate or liquid in cup at one time."

VOCABULARY
 
As said at the top of this site, if any word throughout this site was highlighted, you will find it here with its definitions.
 
1. Neurons: Any of the impulse-conducting cells that constitute the brain, spinal column, and nerves, consisting of a nucleated cell body with one or more dendrites and a single axon. Also called nerve cell.
2. Degeneration: The act or state of growing worse, or the state of having become worse; decline; degradation; debasement; degeneracy; deterioration.
3. Basal Ganglia: The large masses of gray matter at the base of the brain which, if damaged, would impair motor abilities
4. Therapeutic: of or pertaining to the treating or curing of disease; curative.
5. Neurologists: Someone who studies the medical science that deals with the nervous system and disorders affecting it.
6. Psychologists: A person trained and educated to perform psychological research, testing, and therapy.
7. Psychiatrists: A physician who specializes in psychiatry.
8. Sensory Stimulation: Testing different senses.
9. Suppressing: To put an end to forcibly; subdue.
10. Originates: To bring into being; create
11. Physician: A person who is legally qualified to practice medicine; doctor of medicine.
12. Pathologist: A person who studies the origin, nature, and course of diseases.



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cure foundation
disease huntington
disorder neurons
drugs research
emotional

treatment

fatal  

REFERENCES

[1] "Huntington's Disease." MedicieneNet.com. 12 Dec. 2008 www.medicinenet.com/huntington_disease/article.htm

[2]In this image it shows the brain and what is affected. The Caudate Nucleus shrinks during Huntington's disease and the Putamen is what helps motor the brain. This is from Wagner, Norma. "Researchers Find Gene." 2/18/1999 24 Dec 2008 <http://www.curehd.org/articles/salt%20lake%20tribune%202-18-1999_2.htm>.

[3]"MIT Research Holds Promise For Huntington's Treatment; Could Also Have Impact On Parkinson's Disease." 3/9/06 24 Dec 2008 http://www.sciencedaily.com/images/2006/03/060308202236.jpg.

[4] "Leandor Toro.com." Leandor Toro.com. 14 Dec. 2008 www.leandrotoro.com/upload/2007/03/huntington2.png.

[5] " Huntington's Disease." American Speech-Language-Hearing Association | ASHA. 14 Jan. 2009 <http://www.asha.org/public/speech/disorders/HuntingtonsDisease.htm>. This cite also has some more great information if you are interested of learning more how to help person with Huntington's Disease.

[6] Wright, Sue. "Huntington's Disease by Sue Wright."YouTube. 17 June 2007. 15 Sep. 2008 <www.youtube.com/watch?v=KsW0uqS72EE&feature=related>.

[7] "MS Waikato Trust." MS. 16 Jan. 2009 <www.mswaikato.org.nz/images/Huntington

[8] "Substance Abuse and Brain Injuries." Ohio Valley Center. 16 Jan. 2009 <www.ohiovalley.org/images/cartoon

[9] "Free online puzzle maker." Free online puzzle maker. 17 Jan. 2009 <http://www.puzzle-maker.com/>.

[10] "Definitions." National Research Roster for Huntington Disease Patients and Families. 19 Jan. 2009 <http://hdroster.iu.edu/AboutHD/definitions.asp

 

BIBLIOGRAPHY
 
1. "Major symptoms and effects of Huntington's disease ; Seattle Washington WA." Swedish Medical Center, Seattle, Washington | Swedish Medical Center / Seattle. 5 Dec. 2008 http://www.swedish.org/14935.cfm.
 
2. "Huntington's Disease: A Disease of Mind and Body." Lakewood Public Library (Lakewood, Ohio). 5 Dec. 2008 http://www.lkwdpl.org/hdsa/dmb/.
 
3. "Huntington's Disease." MedicieneNet.com. 12 Dec. 2008 www.medicinenet.com/huntington_disease/article.htm
 
4. "Huntington's disease - Wikipedia, the free encyclopedia." Wikipedia, the free encyclopedia. 12 Dec. 2008 http://en.wikipedia.org/wiki/Huntington's_Disease.
 
5. "HDlighthouse.org: Environment, other genes influence HD onset." Huntington's Disease Lighthouse. 13 Dec. 2008 http://www.hdlighthouse.org/showUpdate.php?p_articleNumber=77.
6. "Huntington's Disease: Hope Through Research: National Institute of Neurological Disorders and Stroke (NINDS)." National Institute of Neurological Disorders and Stroke (NINDS). 13 Dec. 2008 <http://www.ninds.nih.gov/disorders

7. "Leandor Toro.com." Leandor Toro.com. 14 Dec. 2008 <www.leandrotoro.com/upload/2007/03/huntington2.png>.

8. Greenburg, Charles S.. "Compounds That Prevent Nerve Damage Discovered." Science Daily: News & Articles in Science, Health, Environment & Technology. 1 Jan. 2009 <http://www.sciencedaily.com/re
9. Huntington's Disease: Discovery Will Assist Treatment And Research Into Fatal Brain Disorder." Science Daily: News & Articles in Science, Health, Environment & Technology. 1 Jan. 2009 <http://www.sciencedaily.com/release
10. "Physical Activity Delays Onset Of Huntington's In Mouse Model."Science Daily: News & Articles in Science, Health, Environment & Technology. 1 Jan. 2009 <http://www.sciencedaily.com/releases/2008/03/080331223821.htm>.
11. Tretheway, Jim. " A Perspective for Treating HD Today ."Huntington's Disease Lighthouse. 1 Jan. 2009 http://www.hdlighthouse.org/TreatmentNow/updates/1237treatment.php.
 
12. Wright, Sue. "Huntington's Disease by Sue Wright." YouTube . 17 June 2007. 5 Jan. 2008 <www.youtube.com/watch?v=KsW0uqS72EE&feature=related
 
13. "Huntington's disease: catching it early | Eureka! Science News." Eureka! Science News | Latest science articles & news. 5 Jan. 2009 http://esciencenews.com/articles/2008/07/14/huntingtons.disease.catching.it.early.
 
14. "Brain Deletion Of FK506-Binding Protein Enhances Repetitive Behaviors In Mice." Medical News Today. 11 Dec. 2008. 5 Jan. 2009 www.medicalnewstoday.com/articles/132693.php..
 
15.  " Huntington's Disease." American Speech-Language-Hearing Association | ASHA. 14 Jan. 2009 http://www.asha.org/public/speech/disorders/HuntingtonsDisease.htm.
 
16.  Miller, Jean E.. "Message For Young People." Huntington's Disease Support Information. 14 Jan. 2009 http://endoflifecare.tripod.com/livingwithhd/id20.html.
 
17.  Nance, Martha. "An Uncertain Journey Along the Genetic Trail." washingtonpost.com - nation, world, technology and Washington area news and headlines. 12 Sep. 2005. 15 Jan. 2009 http://www.washingtonpost.com/wp-dyn/content/article/2005/09/23/AR2005092302372.html.
 
Here are links for kids who want to learn more: 
  
Subpages (1): Powerpoint Slide Show

Comments (17)

Annette Dolby - Dec 10, 2008 8:30 PM

awsome possom!!!

James Connor - Dec 10, 2008 8:32 PM

Nice job Kylie really cool!

Kylie Viola - Dec 12, 2008 2:18 PM

thanks everyone keep looking because there will be more information soon!

Annette Dolby - Dec 13, 2008 11:00 AM

THIS IS SO MUCH, CATCHING UP TO ME!!!
ITS AWSOME
HEY NEXT FRIDAY DO YOU WANNA CORRECT WHAT I HAVE SO FAR, AND VISA VERSA?

Kylie Viola - Dec 13, 2008 12:58 PM

thanks and sure, but maybe not next friday cause then we can work on it, but that would be good to both do that.

Annette Dolby - Dec 15, 2008 6:55 PM

you are awsome you have so much work

Kyra Hayter - Dec 17, 2008 11:05 AM

WOW! this is so good!

Sophie V - Jan 3, 2009 4:46 PM

this is very good. i like all the pictures they explain the writing nicely. you have a lot written!

anastasia fry - Jan 4, 2009 2:45 PM

this is really good i really like the pictures, very informitive

Kylie Viola - Jan 5, 2009 7:25 PM

thanks everyone!

Maya L.I. - Jan 6, 2009 8:09 PM

Wow this is awesome!
Great job

sarah Rubenstein - Jan 12, 2009 6:57 PM

Your site is looking really good. I can only suggest that you work on polishing it up. Where sis you get the punnet squares? Did you make them or are they from a web site?

Kylie Viola - Jan 16, 2009 2:55 PM

thanks for the feedback and keep it coming, it is a lot of help!

Eliza B. - Jan 21, 2009 6:20 PM

great job!!

Annette Dolby - Jan 22, 2009 7:50 PM

you have so much i love it, im so excited for the talent show. i ate this soggy apple the other day it was disgusting. lol

Lauren Clark - Jan 22, 2009 7:54 PM

its really good kylie

Andrew Calkins - Jan 27, 2009 5:37 PM

Excellent work! A+