Huntington's disease
A genetic disorder is a disease that is caused by a problem or mutaion in a person's DNA. A genetic disease is a change in the letters that make up a gene. When a gene is mutated and can not do the normal functions, this can result in a disorder. Genetic diseases can be heriditary. This is because the mutaion usually comes from the germ cells which are the cells used in passing genetic information to their children.
History:
George Huntington wrote a paper on the disease in 1872, making the disease officially named and brought to everyone's attention even though it had been acknowledged as a problem before him. His paper was quickly read and noted by other doctors. Huntington was an American physician after a long line of doctors in his family.
Description:
Huntington's disease is a neurological deisease and causes by a genetic defect on chromosome 4. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to when it is supposed to be repeated 10 to 28 times. A person with Huntington's disease will have it repeat 36 to 120 times. As the gene gets passed down, the number of repeats may get larger and the larger number of repeats, the bigger your chance is to developing symptoms while still young. If one of your parents has Huntington's disease, you have a 50 percent chance of getting the gene that causes the disease. If you get the gene, you will develop the disease in the period of you life and you may pass it to your own child.
Symptoms:
Some of the symptoms of Huntington's disease may include behavioral changes like paranoia, hallucinations, moodiness, and irritability. Other symptoms may include movement abnormalities like involuntary leg or arm movements and walking difficulty. Loss of memory, difficulty of speech and emotional disturbance are also symptoms of Huntington's disease.
Treatments:
There is no cure to stop Huntington's disease from getting worse and the only reason for medication is to simply slow down the symptoms and help the person to have their normal functions controlled by them again as well as they could. Medications include dopamine blockers to reduce abnormalities in movements and behavior. A medication called amantadine and tetrabenazine are also used to control involuntary movements. The person will need assistance as the disease grows worse and will soon need 24 hour care.
Gene Therapy:
Gene therapy is a therapy that uses genes to treat or prevent diseases. This is in place of surgery or medication to try to fix the person's genetic disorder or problem. Since Hutington's disease is incurable, gene therapy has been an option but not an absolute answer for people with Huntington's disease.
sources:
http://www.genome.gov/10001215
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001775/
http://www.steadyhealth.com/articles/The_16_Most_Common_Genetic_Diseases_a1547.html
http://learn.genetics.utah.edu/content/disorders/whataregd/
http://www.geneticalliance.org/diseases
http://www.nlm.nih.gov/medlineplus/ency/article/000770.htm
http://predictivetestingforhd.com/what-is-hd/genetics/cag-repeats/
http://www.nlm.nih.gov/medlineplus/ency/article/000770.htm
http://ghr.nlm.nih.gov/handbook/therapy/genetherapy
http://cmbi.bjmu.edu.cn/cmbidata/therapy/about/about01.htm
http://www.ncbi.nlm.nih.gov/pubmed/22222669
http://www.sciencedaily.com/releases/2009/04/090420170810.htm