Huntington Disease Genetic Disorder Project

1. Huntington DiseaseGenetic Disorder Project Alaukika Desai AP Biology Period 3

2. What is Huntington's • It is a disease that causes progressive brain disorder leading to uncontrolled movements, emotional problems, and loss of thinking ability. The above stated effects are caused by the degeneration of nerve cells in certain parts of the brain.

5. What causes Huntington’s? • Huntington's disease is caused 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. Normally, this section of DNA is repeated 10 to 28 times. But in people with Huntington's disease, it is repeated 36 to 120 times. • As the gene is passed down through families, the number of repeats tend to get larger. The larger the number of repeats, the greater your chance of developing symptoms at an earlier age. Therefore, as the disease is passed along in families, symptoms develop at younger and younger ages.

7. Two types of Huntington’s: • Adult-onset is the most common form of Huntington’s. People with this form usually develop symptoms in their mid 30s and 40s. • Early-onset form of Huntington's disease accounts for a small number of cases and begins in childhood or adolescence.

8. Symptoms (Behavioral) • Behavioral disturbances • Hallucinations • Irritability • Moodiness • Restlessness or fidgeting • Paranoia • Psychosis

9. Symptoms (Movement based) • Facial movements, including grimaces • Head turning to shift eye position • Quick, sudden, sometimes wild jerking movements of the arms, legs, face, and other body parts • Slow, uncontrolled movements • Unsteady gait

10. Symptoms (Dementia) • Disorientation or confusion • Loss of judgment • Loss of memory • Personality changes • Speech changes

11. Symptoms (Additional) • Additional symptoms include, anxiety, difficulty swallowing, and speech impairment. • Symptoms in early-onset Huntington’s include rigidity, slow movements, and tremors.

12. Lifestyle • The lifestyle of the patient and their family members is greatly affected. Depression and suicide are common among people with Huntington's disease. It is important for all those who care for a person with Huntington's disease to monitor for symptoms and treat accordingly. • As the disease progresses, the person will need assistance and supervision, and may eventually need 24-hour care.

13. Lifestyle • Family members usually need to be very supportive in helping the patient survive. • Eventually, a person with Huntington's disease will need assistance with eating and drinking. • People with Huntington's disease often have difficulty maintaining a healthy body weight. • Difficulty with chewing, swallowing and fine motor skills can limit the amount of food you eat and increase the risk of choking.

14. Huntington's Disease Society of America • There is a national support group made especially for patients suffering from Huntington’s and their families. • This group organizes charity events, fundraises as well as holds activities for the patients to participate in. • It is also a good resource for newly diagnosed patients. It contains information on how to live with Huntington’s.

16. Treatment • Unfortunately, there is no treatment for completely curing Huntington’s. The treatment that is available 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.

17. Famous people with Huntington’s • Woody Guthrie, a well known American singer-songwriter and folk musician died due to Huntington’s.