Likelihood for cure

Alot of research has been done, and scientists are on the verge of finding a cure. In 2006, a study by the University of British Columbia's Centre for Molecular Medicine and Therapeutics discovered a way to take the Huntington's Disease gene out of mice providing hope that it can also be removed from humans.  The cure for humans still has not been found, but scientist are researching tirelessly for it. 

Orginizations

If you or a loved one have HD, check out these three websites:

Team Hope:
http://www.hdsa.org/team-hope-2011/index.html

Huntington's Disease Society of America:

http://www.hdsa.org

Support Group:

http://www.dailystrength.org/c/Huntingtons-Disease/support-group

Everyday life

People with Huntington's disease have difficulty focusing on specific, simple tasks and normally need assistance in things that they have done their entire life.  Getting dressed becomes a hassle, taking a bath becomes difficult, and making lunch becomes impossible.  As the person finds themselves less and less capable of doing tasks themselves, there self worth lessens, and depression may start to sink in.  It is important for people helping them to try and modify the tasks so that it can become possible for the person with HD to cope.  

Quality of Life

The average life of someone with Huntington's is completely normal until the symptoms start to develop, and then it all goes downhill.  It starts out with slight, uncontrollable muscle movements, clumsiness, and lost short-term memory.  It then starts to advance to irritability, mood swings, depression, and uncharacteristic aggressive behavior.  As the disease progresses, the symptoms advance and become worse and worse.  The slight muscle twitches become a lot more pronounced, the depression worsens, the mood swings become even more noticeable, weight loss starts to ensue, and difficulty with speech and swallowing follow.  The patient will no longer want to do anything and the simplest of tasks become impossible. Full nursing is eventually required.  The immune system shuts down, and death is normally caused by a secondary disease.  The last years of someone with Huntington's are nearly unbearable.

Life expectancy&treatment

The life expectancy of someone with Huntington's is around

 50 to 60 years of age.  Most people develop the symptoms

 around 40 and there mind slowly deteriorates for 10 to 20

years.   There are no cures for Huntington's disease, but

 there are medicines that can make it more bearable but with

 many risks. Tetrabenazine can help control the writhering,

jerking body movements, but it may lead to even severer

depression.  Antipsychotic drugs can control chorea, but

 they can also lead to worsened muscle rigidity.  Other

 medications, such as antiseizure drugs, can suppress

 dystonia, chorea, and muscle rigidity, but they have high

 abuse rates.  

Physical Symptoms

Symptoms of Huntington's include:

• uncontrollable body movements (twitching, jerking, ect.)
• muscle rigidity
• uncoordinated, slow movements
• abnormal eye movements 
• terrible balance
• difficulty talking, impaired speech
• trouble swallowing
• lack of flexibility
• difficulty forming thoughts
• not being able to obtain information
• lack of impulse control
• lack of perception 

Diagnosis

Huntington's disease is often mistaken for other diseases, such as alcoholism. The great American folk singer and composer, Woody Guthrie, faced this problem.  He was issued in and out of many mental institutions before he was properly diagnosed.  In theory, diagnosing Huntington's is rather simple.  It starts out with the doctors doing an extensive research into your family history.  Then they compose a pedigree in order to determine the risk you have of having Huntington's.  Then they run a couple tests on you. They will test your hearing, eye-sight, ask about recent emotional problems, and check to see if your mobility is still working how it should.  If these tests indicate Huntington's, they will take a blood sample.  They will check chromosome 4 and count the CAG repeats.  If the repeats are higher than average, they may run a CT scan to check out your brain mass.  

Chances of passing on disease

If one parent  has the disease, there is a 50% chance that the child will inherit the disease.

Hh	hh
Hh	hh

                                                   

If neither of the parents have the disease, there is no chance that the mutation will be passed on genetically. ** 

hh	hh
hh	hh

**it is still possible that there will be a mutation in the sperm that can cause the offspring to have the HD disease gene, but this is very rare.  

How common is Huntington's?

Huntington's is one of the most common hereditary disorders, but it is still fairly rare.  Around 30,000 people nationwide have Huntington's disease.  This is around 8 in every 100,000.   

Possible genotypes for parents, and chromosomal abnormality

      The possible genotypes for the parents are Hh and HH.  You only need one effected allele to show symptoms of the disease.  

      Huntington's disease occurs when a part of the DNA, called CAG repeat too many times.  Normally, CAG is repeated 10-35 times on chromosome 4, but the HD disease gene causes it to repeat 36-120 times! 

How does a person inherit Huntington's?

        Huntington's disease is an autosomal dominant disorder. It is caused by a mutation of the Huntington's disease gene located on chromosome number 4. If one parent has the disease, there is a 50% chance that the child will have the disease.  A small percentage of Huntington's cases are sporadic.  This means that even without any family cases, a person can get the HD defect gene.  This is believed to be cause by an mutation that occurs during sperm development.  

Huntington's Disease

     Huntington's disease is an adult onset genetic disease that leads to the deterioration of the brain.  Huntington's disease impacts a person's functional abilities. Leading to movement, thinking, and psychiatric disorders.  

     Usually, Huntington's shows itself in people over the age of 40 but it can appear earlier in life.  If it develops before age 20, it is called juvenile Huntington's disease and it shows a different array of symptoms and leads to faster deterioration.  

What is a Genetic Counselor?

        A genetic counselor is the person you go to to determine the risk you have of passing a genetic disease onto your children, or to help you understand the risk of developing certain diseases.  They will study your family's pedigrees and create multiple punnet squares off of them.  These tools will help them figure out the chances that you have or of you passing the disease and help advise you.  They will teach you about the disease and help give you the right medical support.  

       Genetic counseling can happen at multiple times during a persons life.  Such as, before conceiving a child, during  pregnancy (if a flaw is noted on an ultrasound),  if a birth defect is noted, during childhood(if your child is developing slower than normal), and during adulthood(if you are experiencing symptoms of adult onset genetic diseases).  

     Genetic counselors generally have an extensive understanding about genetic diseases and how they are passed down from generation to generation.  Usually, they have a masters degrees in genetic counseling.