Huntington’s disease (HD) is a fatal genetic neurodegenerative genetic disorder affecting the brain. It results in uncontrolled jerking movements (chorea), cognitive and behavioural changes. HD leads to incapacitation of the patient and ends fatal. However, death rarely results from HD itself. It is typically due to complications of HD. HD was originally called Huntington’s chorea, because of the involuntary movements that looked like jerky dancing. Chorea is the Greek word for dancing. The majority of HD patients start developing the disease around 30 to 40 or even later. If HD onsets before the age of 20, the condition is called juvenile Huntington’s disease. This form of HD has often expresses the symptoms different and progresses faster
The disease that I have chosen is Huntington’s disease. Australian Huntingtin’s Disease Association (NSW) says that five in one hundred thousand people have Huntington’s disease. Huntington’s disease is rare in people who descended from Europe, but according to the U.S national library of medicine it is less common in people of “Japanese, Chinese and African decent” to name a few (2017). The symptoms may include: subtle changes in personality and physical skill. The most recognisable symptom is random sporadic movements throughout the body. This is called chorea; this can reduce coordination and cause other minor motor abnormities. This would lead to difficulty chewing, swallowing, speaking, cause unusual facial expressions
Huntington’s disease destroys the organs that carry the functions of the central nervous system. Kalat (2013) states, “Huntington disease (also known as Huntington disease or Huntington’s Chorea) is a severe neurological disorder that strikes about 1 person in 10,000 in the United States” (A.B. Young, 1995, p. 258).Individual’s develop the symptoms in their middle age, but even if it is a rare disorders juveniles as well as children before the age of ten can develop the disease. Huntington’s disease is hereditary disease that is passed on from a parent. Huntington’s disease is of the lack of the chromosome 4, if one of the parents carries the gene, they can pass that gene to their
Huntington's disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.
Originally referred to as Huntington’s Chorea, Dr. Huntington named the disease after the Latin and Greek roots meaning a chorus of dances, which seemingly fit the “dancing disorders” seen throughout the Middle Ages and during the Salem Witch Trials. Upon the publication of Dr. Huntington’s paper On Chorea, the scientific community was soon able to locate the gene with results in this disease (“Hope Through Research”). Today it is estimated that over 30,000 Americans have Huntington’s and over 200,000 people are currently at risk for developing the disease later in life (“What is Huntington’s Disease”).
Gene is the basic unit of heredity in a living organism. It is also composed of the DNA (deoxyribonucleic acid). Huntington's disease is caused by abnormal genes in the nerve cells in the brain. In the global population Huntington's disease evaluates that for every 100,000 people 5-10 people are going to have Huntington's disease. In the United States, 30,000 are affected by Huntington's disease and 150,000 people have 50 percent risk of evolving this disease. Moreover, in middle east countries Huntington's disease is estimated to affect 3-4 people per 100,000. Explaining the history, meaning and how the genes of Huntington's disease inherited helps to realize the disease and its risk.
Huntington’s disease, named after George Huntington, was discovered in 1872. It is a neurological condition that is caused by an altered gene. This gene is passed from parent to child, but the disease cannot be seen until a later age. As the disease affects the brain by death of brain cells, the patient loses thinking. Also loss of physical and emotional functions such as walking, feeling pain, and lack of display of emotion. The symptoms start to appear when adults are around the age of 30 as well as up to 70. The most common symptom of Huntington’s is chorea. Chorea is where the body jerks, usually in the arms and legs. They may also experience difficulty speaking, swallowing, and focusing.
family, and an analysis will be done. This sampling of the blood will be performed
Huntington 's disease is a dynamic, neurological disorder. Tragically, it doesn 't demonstrate manifestations until people have reached they’re 30 's or more. 'Children whose parent 's have this genetic disorder have a 50-50 ' ( ) possibility of acquiring the trait.
It is a black and white test, either they would be positive or negative. A year ago, my good friend Chloe and her sister decided to have genetic testing to discern if they had Huntington’s disease. Their father had Huntington’s disease and it was a devastating experience. Their father was in the middle stage, he had a wobbly, spasmodic walk, spontaneous movements and his cognitive capabilities were waning. Chloe was negative, but her sister was positive. Watching my friends undergo testing and listening about their father revealed to me how Huntington’s disease has extensive emotional, social, and mental impact on the patients and their families. Chloe’s father experienced
Envision a life that is completely normal, walking and talking, running and playing, driving. However, then life begins to change. The person starts to stutter when speaking. Walking becomes difficult as the person trips over their own feet with jerky movements and even falls. Eventually, the ability to walk disappears and a wheelchair is the norm. No more running, playing, or driving. Balance and memory problems will appear in due course. Subsequently, even eating may be complicated leading to the possibility of a feeding tube. Loss of physical and mental abilities will progressively become worse. Ultimately, a long-term care facility may be in the future. This is the progression and life of a person with Huntington’s
It is a disease that progressively breaks down the nerves in the brain. The genetic mutation that underlies the disease is in chromosome 4. The gene codes for the huntingtin protein, which makes up about 6% of the DNA in cells (Genetic Home Reference). This mutation deals with the trinucleotide repeat of the cytosine-adenine-guanine (CAG) sequence. This sequence repeat can repeat up to 40 times to be considered normal, but after this sequence repeats more than 41 times then it is considered Huntington's disease. Huntington’s protein can form inclusions seen in both the cytoplasm and the nucleus (Suchowersky). These inclusions are correlated with neuronal cell death, which occurs within the nerves. Interestingly, Huntington protein seems to be very important for early development (Suchowersky), but in high concentrations appears to become toxic especially to nerve cells. Overall, Huntington’s disease has a very intense effect on the body and behavior
“The time from disease onset to death is often about 10 to 30 years. Juvenile onset usually results in death within 10 years” (Huntington's disease, 2014). The rate of progression varies from person to person. The disease itself will not kill you, but complications from the disease. Pneumonia is the top cause of death of HD at 51.1 percent (Liou, 2010). Heart attack, kidney failure, gastrointestinal disease, and suicide are also some of the top complications with Huntington’s
HD is a rare, progressive neurodegenerative disease which usually manifests itself between 30 and 45 years of age . It's characterised by a loss of motor control, jerky movements, psychiatric symptoms, dementia, altered personality and a decline in cognitive function. As the disease is adult onset, many people have already had children before they are diagnosed and have passed the mutant gene onto the next generation. In 1983, a genetic marker linked to HD was found on Chromosome 4, making it the first genetic disease to be mapped using DNA polymorphisms. However, the gene was not finally isolated until 1993
This paper discusses one of the most well known neurodegenerative diseases named Huntington’s. Recent statistical records showed that the disease is widely spread around the world. Scientists have conducted many researches in order to study the mode of inheritance of the disease as well as to find a possible cure for it. They discovered that the disease is genetically inherited from one generation to another. The aim of this scientific paper is to provide information about this genetic disorder including its history, genetics, inheritance, mechanism, causes, symptoms, diagnosis, treatment and some of the current researches being conducted to study the nature of this disorder. Huntington’s disease has garnered a lot of attention in the last
Back in the 18th century when Huntington’s was first recognised it was still poorly understood, this was due to the fact that people who had the disease died before symptoms