Case Study Duchene Muscular Dystrophy

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.

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).

Duchenne Muscular Dystrophy is an X-linked genetic disorder caused by a genetic mutation in the dystrophin gene. The disorder is recessive, therefore males are more at risk for displaying the mutation than women. However, women can be carriers and have mild effects. Duchenne Muscular Dystrophy affects the neuromuscular systems, which can result in deterioration of muscles and eventually death.1 The disorder usually presents itself in early childhood, and can affect the respiratory and cardio systems. The disease can cause spinal problems, respiratory problems, intellectual disability, and cardiac disease which is the main cause of death.4

I enjoyed reading your DQ 1 post this week, and it is the patients right to choose, but only if they are deemed competent. They also have to respond willingly. It is also important to understand that telling patients the truth no matter what even if the patient is fatally ill is what is required out of a health care professional. Not only is it the right thing to do, but it is considered the standard of care in the United States (U.S.). To preserve and enhance the patient's autonomy the Patient Self-determination Act was enacted. However, some might say that doctors responsibilities and family integrity are being set to the side ( ). But I think otherwise because it is our right to choose what we believe would be

In these situations where a patient may not be able to ensure they are informed lawfully, it then becomes the medical staff’s moral Duty to advocate for the patient to protect them, this involves ensuring enough information, that can be tolerated and is amoebic to the situation is

Duchenne Muscular Dystrophy (DMD) is a lethal genetic X-linked disease results from the mutation in the reading frame of the dystrophin protein, and it affects mostly boys in their muscle and cardiopulmonary function. Although there are no effective treatments to cure DMD patients right now, scientists consistently explore more methods to come up with the practical treatments. One of the most popular and valid approaches is a gene-editing therapeutic method – CRISPR/Cas9 Genome Editing. It adapts from the natural systems in bacteria, and it can generate targeted gene modifications to target specific DNA sequence. Then it introduces shifts within exons to restore the reading frame, so it can express a partial functional dystrophin protein.

I remember replying to a few of your posts last semester. Did you know Duchenne Muscular Dystrophy affects more boys than girls? Expect them to be in a wheel-chair at around during their early teens. It is also know that it takes longer for them to start walking, which means they barely walk during their lives. They even have a hard time raising their arms and fall often if they were walking. They might struggle to climb up the stairs or it may not even be worth the trouble. The worst case scenario is Cardiopathy because DMD causes damage to the heart. To further elaborate, the lacking of dystrophin results to weakening of the muscle layer in the heart which is called myocardium. This situation could indeed threaten their life. DMD has also affected the way they learn verbally and they even have a hard time focusing. In addition, they will struggle to recall memories and could interact emotionally different than most people (MDA For Strength, Independence & Life, 2016). I’d choose adoption if I could have avoided this devastating syndrome. I would also suggest prenatal diagnosis.

Duchenne Muscular Dystrophy is a degenerative X-linked recessive disorder usually resulting in death in the late third decade. Mutation of Dystrophin gene at Xp21 disrupts the mRNA reading frame resulting in absent dystrophin protein in muscle cells. Currently no therapy can counteract the disease effectively. Exon skipping with oligonucleotide administration restores the reading frame of the mRNA to produce truncated but functional dystrophin and requires repeated administration which can cause drug accumulation toxicity. Mesoangioblast Stem Cell therapy has shown safety but limited efficacy due to problems of migration and engraftment in patient skeletal muscles. The approach of Cell Mediated Exon Skipping in this project will aim to draw from the strengths of previous strategies while reducing their individual limitations.

Muscular dystrophy is a group of diseases that cause an abnormal progressive deteriorating of the muscles, leading to muscle weakness. Many different types of dystrophy are known, characterized by the muscle groups affected. The disease is caused from a genetic mutation that prevents a protein essential for normal muscle activity from being made, or being produced correctly. In each type of muscular dystrophy, a different protein is irregular (Emery, 2008). Furthermore, because this disease is due to a genetic mutation, there is no cure to fix the mutation. Therefore treatment is used to attend to the problems caused by the dystrophy and treatment strives to create a pleasant life for the patient. According to the National Institute of Neurological Disorders and Stroke, treatment methods include multiple types of therapy, including respiratory, physical, speech, drug, and occupational, as well as surgery (NINDS, 2011). Hydrotherapy, a type of physical therapy in water and its effects on muscular dystrophy patients will be focused on in the succeeding study.

Fist case of Duchenne Muscular Dystrophy (DMD) appeared in 1836 Conte and Gioja described 2 boys with chronic muscle weakness and these boys later developed weakness and hypertrophy of multiple muscle groups (Duchenne, 2015). At the time little was known about DMD and due to the lack of evidences to support his claim and that many scientists thought that Conte and Gioja was describing tuberculosis; therefore they did not receive credit for their work (Duchenne, 2015). Years later, a French neurologist, Guillaume Duchenne will know for his work in faradism and his understanding of muscle disease evaluated 13 boys with DMD and he notice that the muscle tissue loss in the calf is replaced by fat making it look bigger than normal. (Duchenne, 2015).

A lot of people don 't know very much about muscular dystrophy, yet it effects a quarter of a million children and adults. Muscular dystrophy, also known as MD, is a group of genetic muscle diseases that comes in many forms. All forms of the disease involve muscles and the weakening of them. In some cases, the heart and other organs are also affected. Because MD is genetic, people are born with it. It is not contagious and you cannot catch it from someone who has it. There is no cure for MD, but medications and therapies can help. Muscular dystrophy is not always life threatening, it can be more so inconvenient. Regardless of the severity, this disease affects many lives daily and differently, there is a constant fight taking place. People like Jerry Lewis and the MDA have raised billions of dollars to help people one day overcome and cure these diseases. With all of the research done and advances in medical care people are living longer than ever with the disease.

The wellbeing of patients is of paramount importance when discussing healthcare ethics among caregivers. Many reemerging diseases have been evolving on a daily basis and CPR is given on a daily basis unless a DNR has been ordered. It is the responsibility of the provider to consider their professional value and their integrity to treat all patients equally. They have a legal duty to treat all patients with whom they have entered into therapeutic contact. The duty continues until the patient and the healthcare professional mutually agrees to the end of a caring response and treat every patient like they have an incurable disease, but taking care of healthcare workers are also vital.

Everyday, healthcare professionals are faced with ethical dilemmas in their workplace. These ethical dilemmas need to be addressed in order to provide the best care for the patient. Healthcare professionals have to weigh their own personal beliefs, professional beliefs, ethical understandings, and several other factors to decide what the best care for their patient might be. This is illustrated in Mrs. Smith’s case. Mrs. Smith is an 85 year old who has suffered from a large stroke that extends to both of her brains hemispheres which has left her unconscious. She only has some brain stem reflexes and requires a ventilator for support. She is unable to communicate how she wishes to proceed with her healthcare. Mrs. Smith’s children, Sara and Frank have different views regarding their mother’s plan of care. The decision that needs to be made is whether to prolong Mrs. Smith’s life, as Sara would like to do, or stop all treatments and care, as Frank feels his mother would want. In the healthcare field, there are situations similar to this case that happen daily where moral and ethical judgment is necessary to guide the decision that would be best for the patient. The purpose of this paper is to explore and discuss, compare and contrast the personal and professional values, ethical principles, and legal issues regarding Mrs. Smith’s quality of life and further plan of care.

It’s 2025, and a young couple sits anxiously in the waiting room of the geneticist’s office to learn the results of genomic tests on their growing embryos in petri dishes. They’ve been married for about five years, and, to their mothers’ reliefs, they’ve finally decided to have children. However, muscular dystrophy has been observed in Genevieve’s family and Alzheimer’s disease and Hodgkin’s Lymphoma in Tom’s. The doctor tested the embryos for the presence of genetic predispositions to these illnesses. He also tested for their genders, height, intelligence, and muscle tone. The couple will be able to select which embryos to keep for gestation and which to discard. This scenario inspires and invigorates some while mortifying others. Many see

MRI findings of artery invasion consist of the loss of normal vascular flowing void effect, the blurred edge of the local involving arterial wall and the poor enhancement at the involving segment on contrast enhanced arterial phase images (Figure 37). The splenic artery, gastro duodenal artery, and pancreatic duodenal artery are more frequently involved (Dörffel et al,2000).