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Huntington's Disease (HD)

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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

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