Huntington’s Disease By: Ari Naccarato (Press space bar to change slides and make sure the volume is up!)

History/ Overview Huntington’s disease was first found in 1872 when an American doctor that was 22 years old named George Huntington wrote a paper called On Chorea. After his paper was published, the disorder he wrote about was known as Huntington’s Chorea. In the 18 th and 19 th century it was hard for scientist to understand the chronic adult hereditary of Chorea because the people who had it couldn’t live long enough for the symptoms to develop.

Diagnosis The process in which it takes to diagnose the disease is by performing a physical exam and asking questions about the family history. After this, a neurological exam will be done and the doctor should see signs of Dementia, abnormal movements and reflexes, “prancing” and wide walk, and hesitant speech or poor enunciation. Then, the doctor will order a head CT scan and this might show loss of brain tissue inside the brain. Other tests that can show signs of Huntington’s disease is a Head MRI scan and a PET scan of the brain.

Transmission Huntington’s Disease is caused by a genetic defect on chromosome number 4. This causes part of the DNA called a CAG repeat to happen a lot more than it is supposed to. Normally this section is repeated times but with Huntington’s disease it repeats times. The longer the gene is passed through each generation, the number of repeats keeps getting larger and this makes the chance of developing the symptoms earlier. If one of the parents has Huntington’s disease then the child has a 50% chance of getting the gene. The child can also pass that gene on to their own children.

Pedigree Table for Huntington’s Disease Autosomal_Dominant_Pedigree_Chart.svg.png

Signs and Symptoms Some symptoms of Huntington’s disease: Behavior changes before movement problems such as antisocial behaviors, hallucinations, irritability, moodiness, restlessness or fidgeting, paranoia, and psychosis. Abnormal and unusual movements include head turning to shift eye position, facial movements (grimaces), quick, sudden wild jerking movements of the arms, legs, face, and other body parts. Dementia that slowly gets worse are loss of memory, judgment, speech changes, personality changes, and disorientation or confusion.

Video of Person with Huntington’s Disease Click the play button in the bottom left hand corner. Not the actual video! After, click on the blue (outside of the video) and press the space bar to continue.

Treatment There is no true cure for Huntington’s disease and no known way to stop it from getting worse. Because of this, the treatment is to try to slow down the disease and help the person function normally and comfortably. Dopamine blockers help reduce the not so normal behavior of the person such as the fast movements of the body parts. Haloperidol, tetrabenazine, and amantadine are used when the doctor wants to control and other extra movements. Evidence shows that co-enzyme Q10 may also slow down the process of the disease.

Pictures of People with Huntington’s Disease

Reference List A.D.A.M.,. (2010). Huntington's disease. Retrieved from disease Phillips, D. (1981). What is the History of huntington's disease. Retrieved from y.html