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Case Study: Huntington's Disease
Transcript of Case Study: Huntington's Disease
There are tests to see if a person has Huntington's Disease, even before that person is born. During pregnancy a doctor can test the baby for Huntington's disease by either taking a fluid sample from around the fetus--this is called amniocentesis, or by taking a sample of fetal cells from the placenta--this is called chorionic villus sampling or CVS. After a child is born, doctors do a series of neurological and psychological tests, followed by a genetic test to confirm or disprove the presence of Huntington's Disease. These tests can be taken at most hospitals after consulting with a genetic counselor. Organizations/ resources to
help those diagnosed with
Huntington's Disease Mayo Clinic
Cancer Treatment Centers of America
American Cancer Society
FAQs for people recently diagnosed with Huntington's Disease What are the side effects of treatment?
What is the mortality rate?
What are the chances of remission? What is the most likely cause of the disease and is it inherited?
The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called Huntingtin, which means any child of an affected person typically has a 50% chance of inheriting the disease. What percent of the population has the disease? Based on Huntington's disease statistics, it is estimated that the disorder affects about 30,000 people in the United States alone, and at least 150,000 others have a 50 percent risk of developing Huntington's disease at some point. Other statistics indicate that people with the most common form of Huntington's disease generally live 15 to 25 years after the onset of the disorder. Which groups are affected? It is much more common in people of Western European descent than in those of Asian or African ancestry.Physical symptoms of Huntington's disease can begin at any age from infancy to old age, but usually begin between 35 and 44 years of age Which genes are affected? The Huntington gene provides the genetic information for a protein that is also called "Huntington". Expansion of a CAG triplet repeat stretch within the Huntington gene results in a different (mutant) form of the protein, which gradually damages cells in the brain Cure There is no cure for Huntington's disease, and there is no known way to stop the disease from getting worse. The goal of treatment is to slow down the symptoms and help the person function for as long and as comfortably as possible. Medications vary depending on the symptoms. Dopamine blockers may help reduce abnormal behaviors and movements.
Drugs such as amantadine and tetrabenazine are used to try to control extra movements.
There has been some evidence to suggest that co-enzyme Q10 may also help slow down the course of the disease, but it is not conclusive.
As the disease progresses, the person will need assistance and supervision, and may eventually need 24-hour care.