What Is Huntington's Disease?

Huntington's Disease (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007). The gene that causes the disease is located on the fourth chromosome and causes an abnormal number of repeats in the patient's genetic code (Harmon, 2007). Huntington's Disease can have devastating effects on patients' quality of life. The first symptoms of HD generally start between the ages of 30 and 45 and patients are typically asymptomatic prior to this time (Terrenoire, 1992 and Walker, 2007). However, the disease progresses with subtle changes in motor control, personality, and cognition. Patients eventually develop distinct

In Improvements in Prenatal Genetic Testing Raise Ethnic Issues, R. J. Crayton produced an article about prenatal testing and whether or not parents should be allowed to have these tests done. First the situation of a high risk baby who will have a disability or defect after birth, so the parents decide to abort the child is being viewed as an inequality to the disabled community. Secondly, certain adoptions are put on hold since the biological parents chose to not carry the unborn child through the entire pregnancy, however, the surrogate mother wants to carry the child through the entire term. Lastly, research shows that the results can be a false positive, so unintentionally the parents decide not to keep the unknown, but healthy baby.

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

The distress and the health risk to the mother are concerns when viewed through the lens of the principle of nonmaleficence or of “do no harm”. The accessibility and cost of the prenatal genetic testing are contentious. Although prenatal genetic testing is considered to be a useful tool, some believe it leads us down a “slippery slope”. Controversy exists surrounding prenatal genetic testing for reasons of social, psychological, moral, and religious rationales.

Genetic testing has brought about many changes in the way many couples look at conceiving and raising families. Through genetic testing you are able to screen for the increased chance that a fetus may have one of many congenital disorders, or even identify gene changes that are responsible for a disease that has already been diagnosed (Genetic Testing, March 2015). Unfortunately genetic testing is not always exact, in some cases giving parents false negatives or false positive results. Even if the results are accurate, there is the burden of knowledge once you know the results indicate a genetic abnormality such as Down’s syndrome. While caring for a 2 year old male patient with developmental delays and anotia, I learned that genetic testing had been started but never completed on the child. Genetic testing could help to identify genetic disorders that led to the child’s developmental delays and possible future disorders that may develop. The ethical dilemma I will be discussing to the ANA Ethical dilemma of the impact of informed consent of genetic testing on children for adult onset diseases and disorders.

When considering non-invasive prenatal testing (NIPT), it is important to discuss ethical considerations. There are numerous features of genetic testing that may result in experiencing ethical issues such as the restrictions as to what NIPT is able to provide in specific situations when screening for foetal abnormalities, and what to do with that information resulting from the test. NIPT tests are safe and can be performed in the early stages of pregnancy. Due to the numerous features involved between ethics and the genetic testing, it may become evident that gaining informed consent and the decision-making process may become significantly more troublesome. Currently, NIPT is only available privately and not on the public health system which provides further ethical dilemmas regarding right to access healthcare. Other potential ethical problems surround selective abortion for minor abnormalities and the potential to test for adult onset disease and non-medical problems.

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.

I feel that presymptomatic genetic testing is unethical and

Huntington’s disease occurs from acquiring a defective gene IT15 found on chromosome four. A typical copy of this gene yields the protein huntingtin. However, when the defective gene is bigger than usual, it yields huntingtin in a larger quantity. The etiology becomes fickle when reasons concerning why this defective protein damages the portion of the brain that administers movement. Scientists reveal that the reasoning is due to a miniscule protein called Rhes, which is found in the brain portion that governs movement. Overall, the mutant protein huntingtin causes Huntington’s disease and the defective protein Rhes contributes, however more research and testing is needed to explicate how the Rhes protein augments the pathology. The pathology entails progressive degeneration of the spiny neurons within the basal ganglia, chiefly the putamen and caudate. As the disease advances, neuronal loss ensues in the

There is much controversy around the issue of genetic testing. These controversial issues range from being "unnatural" or against god 's will. There are several different ways to tests genetics but they all have one thing in common: they test for changes or mutations in chromosomes, genes, and proteins. These tests can provide answers for many families who want to know whether their children have become inflicted with a condition due to their family 's genetics, the health of the mother during the gestational period, or by some strange twist of the unknown. Despite all of the controversy, Genetic Testing is acceptable for determining whether an unborn child is at risk of developing a debilitating and/or deadly condition, relieving the worry of parents, and preemptively treating any condition that the child may have.

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

Huntington's Disease is an inherited autosomal, dominant neurodegenerative disorder. The disease is characterized by a gradual worsening of neuromotor function, mood stability, and cognitive function. Manifestations include: chorea (disordered, involuntary movement), worsening behavioral changes, impaired gait, all leading to complete loss of cognitive faculties, loss of voluntary movement, speech/communication deficits, inability to perform ADLs, dysphagia, dysarthria and dementia. Onset of the disease is around 35 – 40 years of age. Death usually occurs within 10 - 15 years of this onset18.

Huntington’s disease is a hereditary disorder that affects a person’s nervous system and kills brain cells. It is caused by a defective gene on chromosome four, which is one of the chromosomes that holds our genetic code. This disease has been known to cause problems with the body’s abilities to produce energy from nutrients taken in from the body. Patients that have more advanced stages of Huntington’s Disease commonly experience increased weight loss.

Huntington’s disease is a hereditary and progressive disorder that affects the neurons of the brain to deteriorate later in life in terms of cognitive and motor skills.

Huntington Disease is a rare inherited Neurological illness. This illness is passed down from generation, but may not show up until you are an adult and is may no never show up. It often appears in more than one member if it occurs in a family. This a Genetic Condition. The change in the genetic information that is passed down is what causes Huntington's Disease. This illness causes involuntary movements, severe emotional disturbance. Huntington causes parts of the brain to break down and lose some natural functions and affects the Nervous system. The very first noticeable symptoms of this illness in changes in personality and muscle twitches. You would usually start to notice these symptoms around the age of 30 to 50. The men and women with