Symptoms that may be expressed include memory loss, mood swings, slurred speech, depression, and death usually from heart disease or pneumonia. There can also be steady downfall of the person mental health. This also can destroy two small regions of the brain (the putamen and the caudate nucleus) that help control movement.
Huntington’s Disease (HD) is a genetic disorder in which the necrosis of cells in the brain causes early death . The neurodegeneration of the brain leads to mechanical and psychological symptoms, which can present normally from 30 to 50 years of age or even earlier, which is referred to as Juvenile Huntington’s Disease [3,5,6]. Some mechanical symptoms of HD are change in gait, uncontrolled or sudden movement, abnormal face movement, turning the whole head instead of using the eyes, difficulty swallowing, impairment of speech and general decrease of motor skills . Psychological symptoms include but are not limited to paranoia, irritability, mood swings, changes in behavior such as agitation or instability and
Huntington’s disease is a hereditary brain disorder that is progressive in neurodegeneration; which means, there is a loss of function and structures of one’s neurons. In the long run it results in the loss of both mental and physical control. The disease affects muscle coordination, cognition and behavior. It used to be known as Huntington’s chorea because it is the most common genetic disease that is the cause of abnormal twitching. Huntington 's has an intense effect on patients, as individuals gradually lose the ability to reason, speak and swallow. Also, motor symptoms, which affects in problems with walking, (Mayo Clinic Staff, 2011).
Surprisingly, ethnicity has substantial impact concerning risks, prevalence of Huntington’s does vary with ethnicity, people with African or Asian ethnicity have a 1 in 1,000,000 chance with a prevalence assessed at 0.38 cases per 100,000. Whereas the prospects for Caucasian people are 70 to 100 times higher with about 3 to 7 cases per 100,000. According to Novak and Tabrizi (2010), “The disease occurs in all racial groups but is most common in people of northern European origin. Its prevalence in the Western hemisphere is 7-10/100 000” (p. 1).
Huntington’s disease is a progressive neurodegenerative disease that causes uncontrolled physical movements and mental deterioration. Huntington’s destroys the brain leading to changes in personality and even cognitive functioning. A faulty gene is responsible for this disease. This faulty gene generates a malformed protein which is accountable for the immediate damage. This damage leads to a slow decline and eventually death. Unfortunately there is no cure and only minor treatments to manage
George Huntington was not the first to describe the disease, but he was the first to present an account in concise clear detail. After Huntington’s research, the disease was known as Huntington chorea. Chorea meaning sporadic, involuntary movements. As time has progressed, research has as well, and this disease has come to be known as Huntington’s disease (HD). Huntington’s is a neurodegenerative disorder that is autosomal dominant, meaning the defective gene needs only be inherited from one parent. The cause of HD is a defect that occurs on chromosome 4 and as mentioned above is hereditary. This disease affects the cognitive, motor and emotional functions of the brain. Oliver Quarrell put in simpler terms the actions of the brain cells in a book he wrote stating the known facts of Huntington’s disease. Quarrell (1999) described a person with this disease to have, “some nerve cells, in specific areas of the brain, die back early” (p.2). The action of cells dying prematurely leads to two forms of Huntington’s; Adult
For our gene and protein lab, my group decided and I to research the deadly, yet rare, disease, known as Huntington's disease. Huntington's disease is an extremely rare condition when your nerve cells in your brain break down overtime. Also, “HD” has a treatment that could aid someone, but it unfortunately cannot be cured. Huntington’s Disease typically begins when someone is thirty or forty years of age and can last years to a life time.
Rooting back to the middle ages the now commonly known Huntington’s disease is the cause of death in one out of 15000 people around the globe. The disease’s existence is documented through history under many different names depending on the amount of information that was gathered through the unusual progression of the disease. The disease was referred to as Chorea initially due to the jerky movements of the patients affected by it. The first thorough description of the disease surfaced in 1872 as George Huntington whom the disease is named after today presented a detailed definition of the disease through his first paper. George Huntington was able to accurately detect the pattern of inheritance of an autosomal dominant disease by examining the combined medical histories of a family that clearly suffered from the disease through generations. The disease could not be studied further until the rediscovery of the Mendelian Inheritance in the 20th century that allowed scientist to look further into the autosomal dominant disease.
The first step in identifying the Huntingtin gene was to use pedigrees of affected families to establish that Huntington’s disease as an autosomal dominant inheritance pattern . Over 100 scientists were involved in the following 10 year Huntington’s
Huntington’s disease can cause cognitive, movement, and psychiatric disorders. Some of the movement disorders a person can have when they are diagnosed with Huntington’s disease are unconscious jerking of the body, the person’s movements are slower, and they have a difficult time trying to talk or swallow. Some of the cognitive disorders that they can have are having a hard time being organized, formulating, and concentrating on tasks they are given, and they also are very impulsive and this can lead to outbursts. They also have a hard
The test will be a genetic test sense the disease is passed down genetically. When you take a test for Huntington’s disease it takes several weeks for the results to be available after the genetic test is complete. No cure has been found for Huntington’s disease but there are some things that can help manage your symptoms. Drugs that a doctor prescribes can help living with this disorder easier. Physical therapy and speech therapy can help with the symptoms relating to muscle ability and issues in speech. The environment doesn’t effect Huntington’s disease. There has been claims saying drinking caffeine can causes earlier development of HD but scientist learned that it didn’t contribute to the
Huntington's disease is a genetic disease. It is an autosomal dominant disorder which means that a single defective gene copy will cause the disease because it inherits the defect in a single gene caused by a mutation in the HD (also known as HTT) gene on chromosome 4.
Huntington’s Disease (HD) is defined as being a progressive neurodegenerative condition which can be characterized by cognitive, motor and behavioral problems (Mestre, Ferreira, Coelho, Sampaio, & Costa, 2009). It is an autosomal dominant disease, meaning that if a child’s parent is affected by HD, there is a 50% chance the child will be affected as well. Huntington’s disease (first known as Huntington’s Chorea) was first documented and studied in 1872 by George Huntingon, MD (Aubeeluck & Wilson, 2008, p. 146; Bourne, Clayton, Murch, & Grant, 2006). Almost 150 years later there is still little known about this disease, which contains no cure in sight.
The following paper will cover a description of Huntington’s disease and the symptoms that go along with it, how to test for Huntington’s disease, a case study, what gene is involved, the chances of
When the disease starts prior to the age of 20, the predicament is called Juvenile Huntington’s disease. It is called Juvenile Huntington’s disease because, unlike normal Huntington’s disease, it recurrently results in different manifestations of symptoms and faster advancement. It is a very fatal illness that can cause death of an individual, however they may still live up to 15-20 years after the progression of symptoms. There are medications that can help keep the symptoms of Huntington’s disease under control; however it can’t help stop or obstruct the physical, mental and behavioural breakdown linked with the