Muscular Dystrophy Case Studies

Though the use of pre-natal hereditary screening is as of now utilized as a part of high-hazard pregnancies for recognition of illness, for example, Down syndrome and Huntington 's chorea (Ridley 55, 98). As researchers decide the qualities for extra hereditary conditions, screening of incipient organisms will give more data to potential biological parents, former to their offspring has advanced. On the off chance that a screened embryo were found to convey qualities for a specific malady or inability, its guardians may specifically prematurely end it. This gives parents a choice of raising a child with a disability or back out if they don’t have the means to support the child financially, physically, emotionally or mentally. This is a good thing despite what others say because if a child is born with a disability in to family that doesn’t have the means to support it, it is unfair to all parties

As we stand in the world today, we as humans have never been more technologically advanced or scientifically intelligent. We have the ability to explore outer space and the depths of the oceans. We are even in the process of developing organs using 3D printing technology. But there is a limit to the extent of advancements that humankind can reach before some begin to pose dangers to humanity or become unethical. Currently, technology is being developed to expand the procedure of in vitro fertilization to genetically modify embryos. The products of this engineering are commonly known as “designer babies”. This technology, when fully developed, would grant parents the opportunity to select against possibly life threatening or altering conditions such as cystic fibrosis, schizophrenia and Alzheimer’s. Using this technology, parents would also be able to make extensive selections regarding their baby’s gender, physical characteristics, and possibly even personality traits and talents. While it is positive advancement to be able to select against life-threatening diseases, the creation of an a-la-carte baby is unethical and crosses the line between positive sociological developments and immoral manipulations of nature for many reasons.

1. The meaning of Duchenne muscular dystrophy is a severe form of muscular dystrophy caused by a genetic defect that can be characterized by a disturbed growth of cardiac and skeletal muscles. It usually affects boys. In 1861, a French neurologist, Guillaume B. Duchenne, was the first person to give a detailed description of this syndrome.

The results in Figure 2. show that increasing the stimulus strength (V) from 0 to o.40V will result in an increase of Active Muscle force generated by the gastrocnemius muscle in the Buffo Marinus, confirming the hypothesis. The force generated plateaus when the stimulus is beyond o.40V.

Scientists have been struggling with the cause, treatment of, and cure for Muscular dystrophy since its discovery in 1886, by Dr. Guillaume Duchenne. Muscular dystrophy is a hereditary disease, affecting thousands of people every year, two-thirds being children between the age of birth through adolescents. Muscular dystrophy can also occur with no family history of the disease.

Picture a young couple in a waiting room looking through a catalogue together. This catalogue is a little different from what you might expect. In this catalogue, specific traits for babies are being sold to couples to help them create the "perfect baby." This may seem like a bizarre scenario, but it may not be too far off in the future. Designing babies using genetic enhancement is an issue that is gaining more and more attention in the news. This controversial issue, once thought to be only possible in the realm of science-fiction, is causing people to discuss the moral issues surrounding genetic enhancement and germ line engineering. Though genetic research can prove beneficial to learning how to prevent hereditary

Gina Kolata’s article, Ethics Questions Arise as Genetic Testing of Embryos Increases (2014), explains that as the increase of the testing of embryos for parents to choose whether or not to have children has also brought its ethical questions in the light. Kolata uses the Kalinskys case, a family in the article, and how their neurological disease, Gerstmann-Straussler-Schinker (GSS), has raised questions for ethicists who have looked into the case. Kolata’s purpose in writing this article is to inform the audience on the growing topic of embryo testing and also the ethical question that also accompany in order to have the audience to develop a personal view on the issue. Given how the author explains the technical terms used within the article, Kolata is writing to an audience that is not fully aware of genetic testing.

For many people, the term “designer babies” sounds like something that could only exist in the novel, Brave New World by Aldous Huxley. But, science has now advanced to the point where faulty genes can now be singled out, discarded, and replaced with more favorable ones. Just like the 16,012 babies manufactured in the Hatchery and Conditioning Centre in Brave New World, human embryos can be selected for fertilization based on their genes. This is done through the processes of in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD). This involves removing mature egg cells from a woman and fertilizing it with male sperm outside of the body. The embryos are then analyzed for abnormalities and mutations in the deoxyribonucleic acid (DNA). The healthiest embryos are then implanted back into the woman’s uterus for regular gestation (Yount). The development of these techniques originated from the Human Genome Project initiated by the United States government in 1988 (Siegel-Itzkovich). Although established initially with the purpose of selecting healthy embryos free of disease, the same techniques can be applied to select genes that code for traits such as intelligence, strength, and beauty. IVF and PGD are useful techniques but should only be used for medical purposes, not for selecting the embryos of perfect children.

The last 150 years have seen the origin of—and rapid expansion in—human knowledge involving the nature and mechanisms of trait and disease inheritance in human beings. Advances in genetic research hold great promise for the future development of effective prevention and treatment strategies for a great many, often devastating, heritable conditions. However, these advances also raise a series of policy, legal and fundamentally ethical questions concerning what we should and should not do with the knowledge and technology we acquire. These questions are numerous and both imminently practical and speculative, ranging from the exhausted, yet still largely unresolved, question of the moral status of the human embryo to fears about slippery slopes into a Brave New World or Gattaca-style dystopic future characterized by designer children and a genetic underclass.

Imagine a world where maladaptive genetic diseases have ceased to exist, parents have the ability to alter and improve their unborn child’s attributes such as height, intelligence, and attractiveness, and each generation becomes healthier, smarter, and stronger. Sounds like an unfeasible utopia, does it not? However, due to scientific advancements in the field of embryonic gene modification, this fantasy may soon become a reality. In a nutshell, embryonic gene modification refers to scientists altering the genome of an embryo in vitro for a multitude of reasons, ranging from eliminating harmful genetic diseases to altering superficial characteristics. Although embryonic gene modification may seem like a dream come true to many, it is not without ethical concerns that require intense debate.

“If it came to a magic genie, I would ask him for two extra wishes. One would be that no one would have to live with the muscular dystrophy disease or any disease,” –Mattie Stepanek. Mattie was just one of the many unfortunate children diagnosed with a muscular dystrophy. The most severe of them all is Duchenne Muscular Dystrophy also known as DMD.

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

Muscular dystrophy (MD) is a rare, progressive disease relating to the weakening of skeletal muscles. There are more than 30 types of muscular dystrophy that are further divided into nine categories. Duchenne MD is the most common and acute form of this condition that accounts for 50% of all the cases. Duchenne MD (DMD) is most prevalent in males, between the ages of 3 and 5 (Norwood, FL, et al. 2009). This X-linked disease occurs for 1 in every 3,500 males, which results in confinement to a wheelchair (Blake et al., 2002). Becker MD (BMD) is a less severe type of this condition. A study conducted in the United Kingdom by Bushby, Thambyayah and Gardner-Medwin, the incidence of Becker MD was estimated to be 1 in 18,450 males at birth

Duchenne’s muscular dystrophy (DMD) is a progressive genetic disorder that leads to muscle atrophy and eventually death. Diagnosing DMD consists of blood tests, genetic testing, and muscle biopsies. Signs and symptoms begin presenting in toddlers with DMD and progressively worsen throughout life. There is no cure for DMD, and will cause terminal cardiopulmonary complications. Medical interventions consist of corticosteroid treatment, respiratory management, cardiac management, psychological management, and physical therapy interventions.

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.