Saturday, March 7, 2009

Sources used for these blogs

"Huntington's Disease." Medicine Net. Feb. 2009 http://www.medicinenet.com/huntington_disease/article.htm.



"Prevalence and Incidence of Huntington's Disease." Wrong Diagnosis. Feb. 2009 http://www.wrongdiagnosis.com/h/huntingtons_disease/prevalence.htm.



"Huntington's Diseaes." Mayo Clinic. Feb. 2009 http://www.mayoclinic.com/health/huntingtons-disease/DS00401/DSECTION=symptoms.



There is HOPE for a cure..." Cure HD. 7 Mar. 2009 http://www.curehd.org/cure.htm.

Monday, March 2, 2009

Pictures of Huntington's Disease




Person disabled by Huntington's Disease


graphics.jsonline.com





































Artistic rendering of a broken DNA helix emanating from a mouse nerve cell.
www.sciencedaily.com/.../04/070422141755.htm

How possible is it that a cure will be found?

Scientists are looking at two possilbe ways to cure HD. The first is to find out how the brain cells die. Once they do this they believe they can block or neutralize the rogue protein created by the defective gene. Most research is being done on this level since the second possible cure builds on this idea. THe second idea is to find a way to rescue the dying cells.

What are some organizations that can help a family cope with an individual's disorder?

Huntington's Disease Society of America:http://www.hdsa.org/
Huntington Society of Canada:http://www.hsc-ca.org/
International Huntingtons Association:http://www.huntington-assoc.com/
The Hereditary Disease Foundationhttp://www.hdfoundation.org/home.php

For other links, go to the Huntington's Disease Advocacy Center's website: http://www.hdac.org/links/

What limitations does the person have?

For a first hand article of a person living with Huntington's Disease click on the following link: http://www.hdac.org/features/article.php?p_articleNumber=70. As HD progresses the individual will become clumsier and clumsier and will bump in to many things, even around the house. The affected individual will no longer be able to drive and will have to rely much more on friends and family. However, he/she should still stay active and try to live a normal life to slow down the effects of the disease.

Sunday, March 1, 2009

What is everyday life like? What is the quality of life















If clicking on the chart doesnt work then click on this link:http://www.promotingexcellence.org/i4a/pages/Index.cfm?pageID=3696
People with Huntington's Disease(HD) go to general practitioners for their day-to-day medical needs. They usually have regular meetings with a specialist, such as a neurologist or a psychiatrist. A person with HD can slow down the effects of HD by staying active and doing activities such as walking, reading, going to the football or a movie, or having coffee with friends. People with HD usually have problems with organization and getting things started so a caregiver can help by kick-starting activities for the individual. As the disease progresses the individual will become more impaired because of the increased nerve cell damage. They will find it much more difficult to move around and will become more forgetfull and in need of care. In the final stage of the disease the individual will become very impaired and will essentially be in the full care of the caregiver.

Some more genetics


















Click on this picture above if you are confused about the genetics of Huntington's disease
"Frank Jakowski's family tree." Daily Herald. 1 Mar. 2009 .http://www.dailyherald.com/graphics/jackowfam.jpg.

How can the disease be treated?

There are medications that can work against the emotional and movement problems that come with Huntington's Disease but there is no way to stop or reverse the progression of the disease. Antipsychotic drugs, such as haloperidol or clonazepam, can prevent choreic movements and can also help control hallucinations, delusions, and violent outbursts. These medications may have severe side effects. such as sedation, and should be taken in the lowest dosage possible. Some physicians may prescribe fluoxetine, sertraline, or nortryptiline to fight depression. Most drugs used to treat Huntington's Disease have side effects such as fatigue, restlessness, and hyperexcitability. Some symptoms are hard to distinguish whether they are caused by the disease or if they are a side effect of a medication.

What is the life expectancy of someone with the disease.



A person with Huntington's can expect to live anywhere from 10-30 more years depending on the severity of the symptoms.
The graph below shows some possibilities for life expectancy for someone with Huntington's Disease(HD) based on the repeats of the codon CAG which are the cause of this disease.

What are the physical symptoms of the disease?

The early signs of Huntington's Disease vary greatly from person to person. However, the earlier the symptoms become visible, the faster the disease progresses. The earliest signs of this disease are usually changes in personality like sudden mood swings. The disease will also affect the individual's cognitive functions. Young people who have this disease will sometimes develop symptoms similar to Parkinson's Disease such as muscle rigidity, tremors and slow movements. Huntington's disease develops slowly and the amount of nerve loss determines the severity of the symptoms. As the disease progresses the individual will develop symptoms such as:

* Sudden jerky, involuntary movements (chorea) throughout your body
* Severe problems with balance and coordination
* Difficulty shifting your gaze without moving your head
* Hesitant, halting or slurred speech
* Swallowing problems
* Dementia

The disease lasts for 10 to 30 years and death usually occurs due to infection (most often pneumonia), injuries related to a fall, or other complications.

Thursday, February 19, 2009

How is the disease diagnosed?

An experienced neurologist will obtain the individuals medical history and intensively question the individual to rule out all other possibilities. Many neurologists also use a pedigree to determine whether the individual has Huntington's Disease or not. It is essential for the individuals to be truthful and reveal the family history. The doctors will question the individual about recent intellectual and emotional problems and will test the person's hearing, eye movements, strength, coordination, involuntary movements (chorea), sensation, reflexes, balance, movement, and mental status, and will most likely order many lab entries as well. In some cases, the physician may ask the patient to have a brain imaging test.

What are the chances of a person with this disease passing the disease to their offspring?

Unfortunately the chances are very likely. Huntington's disease is a dominant gene so even if a one parent is heterozygous and the other one is homozygous recessive, there is still a 50% chance for the offspring to inherit this disease. If the parent is homozygous dominant instead of heterozygous there is 100% chance for the offspring to inherit the disease.






In this example one parent is homozygous dominant(HH) and the other parent is not affected at all(hh). All the offspring would all be heterozygous(Hh) for this disease. Since Huntington's disease is dominant, all the offspring would have this disease.











In this example, one parent is heterozygous for Huntington's(Hh) and the other parent is not affected at all by Huntington's(hh). There is a 50% chance of the offspring inheriting Huntington's disease in which case they would be heterozygous.

















How prevalent is the disease in the population (include statistics)?

Huntington's disease is considered to be a "rare" disease in the United States and only 30,000 people in the U.S are affected by it. An estimated 150,000 more are at risk of inheriting it from a parent. About 3-7 out of 100,000 people of European ancestry are affected by Huntington's Disease.

What are the possible genotypes of the parents?

The possible genotypes for a parent of a person affected by Huntington's Disease could be Hh or HH. Huntington's disease is autosomal dominant so only one copy of the defective gene is necessary to inflict the offspring with Huntington's Disease.

Wednesday, February 18, 2009

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

Huntington's Disease is a genetic disease that is passed from parent to child by a mutation. It occurs when a small sequence of DNA on chromosome 4 has several base pairs that are repeated many times.The normal gene has 3 DNA bases which all contain the sequence CAG. People with Huntington's Disease have this sequence repeating dozens of times. Over time in each successive generation, this sequence repeats itself even more. Huntington's Disease is autosomal dominant so only one copy of the defective gene is necessary to be passed down from the parent to child to inflict the child with the disease.

What is a Genetic counselor?

Genetic counselors are health professionals who work to help families to understand genetic disorders and to inform and aid those families. Some also find local services that can help the family. To be a genetic counselor you have to have a masters degree in that area as well as a baccalaureate degree in fields such as biology or biosciences, psychology, nursing, or genetics. Most genetic counselors also have atleast one undergraduate degree in genetics. Genetic counselors should be able to communicate well with their clients. They should be able to identify problems and inform their clients of the problem so that they will understand.