Huntington’s disease (HD) is rare genetic neurodegenerative disease. The neurons in the brain progressively during a person’s lifetime degenerate to a point where the brain’s motor, cognitive, and psychiatric functions are affected. The symptoms from these disturbances can include, unintended weight loss, sleep and circadian rhythm disturbances and autonomic nervous system dysfunction. The average age of the symptoms onset is generally between 30 to 50 years of age however there are instances where the symptoms appear much earlier on, this is called Juvenile Huntington’s Disease (JHD). This disease progressively gets worse over time and the person usually dies in 15-20 years, usually from infection, but there are various other ways such as suicide. This disease has no known cure and is currently widely researched.
Huntington’s disease has been recognized by people since the middle ages. The disease was originally just called chorea because of the jerky movements that were associated with the disease. HD was first described by Charles Walters. He and various other scientists were able to find proof that the disease was hereditary and its neurodegenerative effects. George Huntington was the first person to thoroughly describe the disease and its hereditary nature. Originally called Huntington’s chorea, the name was changed to Huntington’s disease due to the fact that not all patients developed chorea and the other symptoms were considered more serious.
HD is a disease that slowly deteriorates the brain’s neurons. The mutation of the dominant HTT gene is a Trinucleotide CAG repeat elongation of the 4p16.3 chromosome (at least 36 repetitions). The greater the number of repeats determines how early the onset of the disease is. HTT provides instructions on how to make the protein Huntingtin. The purpose of this protein is unknown; however, it has been shown to be important role in nerve cells. JHD patients usually have 55 or more repeats.
HD is a somewhat rare genetic disease. It has been found to affect 1/15,000 people. The disease is prevalent among Caucasians. The full onset of the disease can be seen later on a life but there is no way to prevent the disease from occurring. The HTT gene is dominant so if one parent has the gene, then the offspring has a 50% chance of getting the disease. That is why genetic counseling is suggested if there is family history of the disease.
The symptoms of the disease are usually seen later on in a person’s life. The early stages of the disease are usually subtle, like changes in mood, movement, and cognitive abilities. Dementia is also an early sign. Later on when the deterioration becomes worse; motor functions such as balance and swallowing will become much harder, and the patient will usually require assistance. The behavioral changes will also become more obvious, this includes increased irritability and aggression, and apathy. Eventually, the disease usually renders the patient in a nearly helpless...