Huntington’s disease is a disorder passed down through families in which nerve cells in certain parts of the brain waste away (PubMed). This disease has many different symptoms that vary in multiple parts to the body. Various types of tests can be done to determine how much brain tissue has been lost and how much the disease has progressed (PubMed). There is no cure for Huntington’s disease, but medicine is available to manage some of the symptoms (Medline). Many complications and life-altering problems result from Huntington’s disease.
Huntington’s disease is caused by a genetic defect on chromosome 4, which causes a part of DNA, called a CAG repeat, to occur more times that it is originally supposed to (PubMed). If a person has Huntington’s disease this section of DNA is repeated 36 to 120 times. Normally this section of DNA is only repeated 10 to 20 times. The number of repeats tends to get larger as the gene is passed down through families. “The larger the number of repeats means the greater your chance of developing symptoms at an earlier age.
” Symptoms develop at younger and younger ages as the disease is passed down in families. (PubMed) There are two different forms of Huntington’s disease. “The most common is adult-onset Huntington’s disease. ” (PubMed) People with this form of the disease usually begin to develop symptoms in their mid 30s and 40s (Medline). If the onset begins before age 20, the condition is called juvenile Huntington’s disease (Mayo). “Earlier onset often results in a somewhat different presentation of symptoms and faster disease progression.
” (Mayo) Children who develop the juvenile form of the disease rarely live to adulthood (Hennepin). This form of the disease accounts for only a small number of cases (PubMed). Both types of the disease are just as equal as the other in the amount of harm placed on the brain tissue. “Huntington’s disease is inherited in an autosomal dominant pattern. This means that everyone who inherits the faulty gene will eventually get the disease. ” (Hennepin) If a parent has the disease the child has a 50% chance of getting the gene for the disease (PubMed).
If the gene is not passed from the parent it cannot be passed onto children, but if it is passed from the parent it will pass onto the children (PubMed). This disease can go unnoticed without any symptoms as late as age 70 (Hennepin). The disease destroys cells in the basal ganglia, the part of the brain that controls movement, emotion, and cognitive ability (Genetics). “Some of the symptoms include: poor memory, depression and/or mood swings, lack of concentration, twitching or other uncontrolled movements, and difficulty walking, speaking, and swallowing.
” (Genetics) Many behavioral changes may occur before movement problems do (PubMed). Disturbances, hallucinations, paranoia, psychosis, and moodiness are some of the first behavioral changes that occur (PubMed). Dementia that slowly gets worse is one of the symptoms that dramatically change the person (Medline). Some of the symptoms that are obvious in children include rigidity, slow movements, and tremor (PubMed). “Eventually, a person with HD becomes totally dependent upon others for his or her care. ” (Hennepin) If any symptoms of Huntington’s disease are present, the person should immediately go see a doctor.
The doctor will perform a physical exam and ask questions about the parent’s family history and about any symptoms (PubMed). The doctor will perform a neurological exam and look for signs of dementia, abnormal movements, abnormal reflexes, and hesitant speech or poor enunciation. (PubMed) A head CT scan will be performed to possibly show loss of brain tissue, especially deep in the brain (Medline). The head MRI scan and a PET (isotope) scan of the brain will be done to check for any informalities (Medline). If a person wishes to know if they carry the gene for Huntington’s disease genetic tests are available (PubMed).
During pregnancy a woman can find out if her baby will have the disease by taking two tests (Genetics). Doctors can take a sample of fluid from around the fetus (amniocenteses), or by taking a sample of fetal cells from the placenta (chorionic villus sampling) to discover the genes for the disease. “After the child is born, doctors can identify the disease by first doing a series of neurological and psychological tests. A genetic test can then confirm the diagnosis by determining if the person indeed has inherited the HD gene mutation.
” This test cannot tell at what age a person will begin to get sick though. (Genetics) “There is no cure for Huntington’s disease, and there is no known way to stop the disease from getting worse. ” (PubMed) Since there is no cure for this disease the goal of treatment is to slow down the symptoms and help the person function for as long and as comfortable as possible. Medications for this vary depending on the symptoms the person is having. “Dopamine blockers may help reduce abnormal behaviors and movements. ” Extra movements are somewhat controlled by drugs such as amantadine and tetrabenazine.
Co-enzyme Q10 has been suggested to possibly help slow down the course of the disease, but it is not conclusive. As the disease progresses, the person will need assistance, and may eventually need 24-hour care. (PubMed) People that have Huntington’s disease should have an idea of what to expect as a result of the disease. This disease causes disability that gets worse over time (Hennepin). “Persons with this disease usually die within 15 to 20 years. ” (PubMed) The cause of death is often infection, choking, or heart failure, although suicide is also common.
(PubMed) If the person is having a difficult time realizing what is happening to them considering counseling would be a great idea. “It is important to realize that the disease affects everyone differently. The number of CAG repeats may determine the severity of symptoms. ” (PubMed) Huntington’s disease was named for Dr. George Huntington, who first described it in 1872 (Genetics). “In the United States, about 1 in every 30,000 people has Huntington’s disease. ” (Genetics) More than a quarter of a million Americans have HD or are “at risk” of inheriting the disease from an infected parent (Hennepin).
Huntington’s disease is a brain disorder that affects a person’s ability to think, talk, and move. Even though there is no known cure for this disease, there are medicines and other possible treatments to slow down the process of this disease. The symptoms vary from person to person, so not everyone with the disease will experience the same symptoms. “HD affects males and females equally and affects all ethnic and racial groups. ” (Hennepin) “Huntington’s disease profoundly affects the lives of entire families: emotionally, socially, and economically.
” (Hennepin) Works Cited “PubMed Health. ” Huntington’s Disease. A. D. A. M Medical Enclycopedia, n. d. Web. 28 Feb 2013. “Mayo Clinic. ” Huntington’s Disease. Mayo Foundation For Medical Education and Research, n. d. Web. 28 Feb 2013. “Medline Plus. ” Huntington’s Disease. U. S National Library of Medicine, 07 Jan 2013. Web. 28 Feb 2013. “Genetic Science Learning Center. ” Huntington’s Disease. Learn Genetics, n. d. Web. 28 Feb 2013. “Hennepin County Medical Center. ” Facts About Huntington’s Disease. N. p. , n. d. Web. 28 Feb 2013.