Exploring Huntington's Disease

There currently is neither a cure nor FDA approved medical treatment for Huntington's disease. The life expectancy is 15 -- 20 years after development begins, and though Huntington's itself doesn't directly kill the individual, it causes so many functional breakdowns in the body that the person can no longer perform basic physical operations such as swallowing and as such a common cause of death is choking or respitory infection.

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 a devastating and progressive neurological disorder that resu lts primarily from degeneration of nerve cells deep in the center of the brain. The condition was first described by George Huntington, a physician in New York, in 1872. Even then, the physician recognized the all-encompassing factors of the disorder when describing it as, "coming on gradually but surely, increasing by degrees, and often occupying years in its development until the hapless sufferer is but a quivering wreck of his former self".

Huntington’s disease is an autosomal, dominant inherited disorder caused by a polyglutamine expansion at the amino-terminal on the huntingtin protein. It causes a progressive degeneration of spiny nerve cells in the striatum and cortex of the brain, impairing a person’s functional and cognitive abilities. Polyglutamine repeats of 36 are found to be non-threating but sequences containing an additional two or three repeats are associated with Huntington’s disease.

disease is incurable. It’s one of those rare diseases that we cannot cure as of yet but many

2. “What Is Huntington's Disease?” Huntington’s Disease Society of America What Is HD, Huntington's Disease Society of America, hdsa.org/what-is-hd/.

At this stage, the individual is completely dependent for their care. A major concern during this time is choking. Also, involuntary movements can either be very severe or have stopped completely ("What Is Huntington's Disease," 2017). Although no longer able to speak, the individual is usually still able to understand language and even be able to recognize family and friends. Those with HD often die due to complications from the disease not actually the disease itself, such as choking and infection ("What Is Huntington's Disease," 2017).

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

A blood sample is required for this test. It is usually collected by inserting a needle into a blood vessel.

Adolescents at risk for Huntington’s Disease should undergo predictive genetic testing to maximize their enjoyment of life as a healthy individual. Although fatal, Huntington’s Disease is not an immediate death sentence. People can usually continue to function normally for many years if the disease is diagnosed in adolescence. Testing for Huntington’s Disease can end uncertainty and allow adolescents to make informed decisions about the rest of their lives in order to make better use of the time that they have as a healthy person.

Huntington’s Disease is a genetic disorder characterized by the arrival of symptoms late in life, usually in the 30s or 40s. It is an autosomal dominant disorder, which includes nerve cells breaking down in the brain. There are both movement and cognitive symptoms related to this disease. Some movement symptoms are unintentional jolting, delayed eye movements, and a compromised manner of walking. Some cognitive symptoms are trouble organizing responsibilities, a deficiency of cognizance of one’s own actions and capabilities, and a difficulty in understanding fresh material. There are also psychiatric disorders associated with Huntington’s disease: depression, obsessive compulsion disorder, and mania. Huntington’s disease results from a mutation

Huntington’s disease is a neurodegenerative disorder that slowly breaks down somatic tissues. This degeneration causes a mass amount of chorea, change in mental functioning, change in behavior, decreased memory, along with other serious psychological problems. Since the mechanism of the disease is still not fully understood, there is no cure for the disease, but there are several therapies and medications available. All of the medication and treatment available only help to manage symptoms; they are just stalling the progression of the symptoms but not the overall disease.

A blood sample is required for this test. It is usually collected by inserting a needle into a blood vessel.

According to Genetic Science Learning Center, it has been stated that approximately 1 in every 30,000 Americans have been affected with Huntington Disease and is considered one of the most common brain disorders due to heredity (Genetic Science Learning Center). This disease was discovered by a 22-year-old American doctor, named George Huntington, in 1872. Huntington wrote a paper called On Chorea which was published in the Medical and Surgical Reporter, and the disorder later become known as Huntington Chorea, but is now commonly known as Huntington Disease (What Is The History of Huntington’s Disease?). Huntington disease-like Syndrome (HDL) is a condition that resembles a lot like Huntington disease (HD) (Huntington disease-like Syndrome).

Nurses should help patient fully understand the risks and benefits before patient makes a decision on a genetic test. It’s challenging when the risks and benefits of genetic test are uncertain. On the decision-making of genetic test, nurses also should consider patient’s culture and religious reasons. Furthermore, nurses should review state requirements and proposals due to different states may have different rules on genetic testing.