Introduction Huntington’s disease (HD) is monogenic neurodegenerative disorder characterized by motor, cognitive and psychiatric abnormalities. It consists of two types: adult onset and juvenile onset. The most common form is adult onset in which a person’s symptoms usually occur between 35-44 years old with a mean survival time of 15-20 years after onset, while the less common form known as the juvenile form begins in adolescence with a mean survival time of 10-15 years after onset.1 Clinical features Early motor disturbances of HD include abnormal eye movements, trouble with coordination and minor involuntary movements known as chorea (non-periodic jerking of limbs, face, or trunk). As the disease progresses, chorea becomes more pronounced, …show more content…
It is restricted to individuals over 18 years old, as it is recognised that childhood genetic testing, particularly for disorders who do not have a cure like HD, has negative effects on family relationships, may induce psychosocial harm to the child and may result in social discrimination in the child’s future.2,7 Predictive testing has its pros and cons. It reduces uncertainty and increases people’s ability to plan for the future including reproduction choices, but may induce negative psychological response from positive results and lack of cure for HD as well as the potential to be discriminated against in employment based on genetic status. Furthermore, it doesn’t provide information about the exact age of onset and the severity of disease when symptoms begin and has no benefit in developing a treatment plan for the patient as the treatment now is on symptomatic …show more content…
It is performed through chorionic villus sampling, which involves extracting sample of chorionic villi from the placenta at 10-12 week gestation to examine presence of HD-causing gene in the fetal cells. The other method used is amniocentesis, which involves the extraction of amniotic fluid from the placenta at 16-18 week gestation and fetal cell culture. The advantage of pre-natal testing is that it gives the parents the opportunity to make an informed choice about whether to continue the pregnancy if their fetus is found to have a high risk of developing HD. However, pre-natal testing also puts significant psychological pressure on the parents as they decide what is the best step for them to take. An ethical debate currently exists in regards to the abortion of fetus for late onset genetic disorder, since the child has the potential to live 30-40 years of fulfilling life before symptoms appear. It is therefore recommended that people with HD or are at-risk of HD to consider other reproductive technique, such as in vitro fertilization in conjunction with pre-implantation genetic diagnosis to allow implantation of an in vitro embryo without HD
It tends to lessen in the later stages. When the disease occurs in childhood (less than 10% of cases) Chorea is more severe and may coincide with rigidity or muscle stiffness and movement restriction. Both chorea and rigidity interfere with coordination and mobility.
My mother’s first cousin doesn’t have any family’s history of genetic disorders, and neither does his wife’s. They have two sons and one daughter. Their first son who was healthy at birth has suffered brain damage and been
Huntington's Disease is a genetic autosomal disorder which effects the brain. It affects about 1 in 20,000 individuals. The symptoms of the disease do not start to occur until after or around 40 years of age. With the onset of the disease the patient starts to gradually deteriorate intellectually, this deterioration also causes involuntary movements. Scientists have only recently found the section of the gene which causes Huntington's disease, and this is allowed them to devise pre-symptomatic tests. However, a cure for the disease is yet to be found.
Huntington’s disease would affect motor movements such as doing jerks and twitches. Tremors would spread and gradually interfere with walking, speech, and other voluntary movements.
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
The three most profound behavioral problems in Huntington 's disease come from the uncontrollable movements called "chorea," dementia, and the altered perception of the
Any couple who's they themselves or their partner's family have a history of certain genetic diseases or disabilities will feel pressured to have this testing done. This topic reminds of the movie Gattica, where parents can now choose what traits their child will have, even removing conditions such baldness and alcoholism. In one scene the parent have chosen to have this done with their second born son, after conceiving their firstborn naturally. When they met with the doctors, the parent express that they only want to insure that their child is healthy and leave the rest up to chance. But the doctor they insist they don't, and they continue with the full procedure. I don't believe this could happen if these testings advances. Today's culture is tries it's best to more accepting of one another, if this continue I don't see future parents opting to do such testings. There will be some who do, but again it will only be a small percentage of potential parents who will do
Breakthroughs in genetics have allowed parents to test their babies DNA in the womb for potential genetic diseases and disorders. The test is done by isolating the babies’ genetic material that is coursing through their mothers veins through a blood test on the mother. After the genetic material is found it is put under multiple diagnostics to determine if the baby has any of a wide variety of conditions such as Down’s syndrome, Tay-Sachs and cystic fibrosis. This Prenatal Genetic Screening can also tell many different traits on the developing baby such as its gender. Many believe that this procedure to be unethical but genetic screening can do more good than harm.
Huntington’s disease is a neurological (nervous system) condition caused by the inheritance of an altered gene. A neurological disorder is a disease that can affect the central and peripheral nervous systems. Huntington’s disease is an incurable genetic brain disorder. The disease is an autosomal dominant disease, meaning a child only needs to inherit the gene from one parent to develop Huntington’s. Nerve cells become damaged when someone holds the HTT gene that produces a protein called huntingtin, as too much of this protein damages cells, and causes various parts of the brain to gradually deteriorate. Huntington’s disease causes changes in the central area of the brain, the basal ganglia, which can affect movement, emotions, and mental
Huntington's disease is a neurodegenerative hereditary condition which causes problems in muscle coordination, behavioral symptoms and leads mental deterioration (Hammond and Tatum 2010). Symptom varies among persons of same family. The most punctual side effects are frequently unpretentious issues with state of mind or insight.
Only one key issue separates opponents on genetic testing, the morality of terminating a pregnancy with the current accuracy of results and altering genetics in order to change mental and physical characteristic in unborn children raises controversy. People question whether or not terminating the pregnancy due to genetic testing results is ethically justified. Genetic testing allows expecting parents to know what to expect in their new child, yet gives the expecting parents to end their pregnancy so they do not have to deal with that specific disorder in their child. Controversial issues arise over current accuracy rates. The data shows that a high percentage of accuracy through genetic testing, though the results are not results. They are a calculation that predicts the child’s odds of receiving the genes that cause certain diseases. Lastly, genetic testing alterations may lead to the ability to design children's physical characterics as well as reducing the risk genetic diseases, but lead to a higher discrimination rate. The answer is clear: there is no correct side when talking about genetic testing as a controversial issue. Both sides must be taken into consideration when debating the
Huntington’s disease, or HD, is a genetic neuro-generative condition that is characterized by progressive dysfunction in motor, cognitive and behavioral abilities. There are about 4-10 cases per 100,000 throughout the world, which makes it one of the most prevalent genetic neuro-generative disorders. Huntington’s disease is a dominant gene mutation that occurs in the huntingtin gene. The result is an excessive repeat of the nucleotide triad cytosine-adenine-guanine (CAG) and causes damage to neurons. The striatum of the brain and the cerebral cortex are most affected by the gene but other parts of the brain atrophy as well. Typically, onset begins around the 4th decade of life although an early onset form can occur before the age of 20.
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.
This couple wants to do genetic testing on their unborn child because huntington's disease runs in their family. The mother's mother had huntington's disease and the couple is worried for their child's health. Another factor impacting them is that they are of
People who may be especially interested and advised for testing might include couples with a family history of genetic disease, those that might have a birth defect, pregnant women over the age of 34, couples who already have a child with a genetic disorder, and couples concerned about specific disorders that occur more frequently within their ethnic group (March of Dimes 1997).