Life With Muscles: A Case Study

Prior to the 1980s, there was minimum knowledge relating to the causes of muscular dystrophy. However, in 1986, researchers discovered a gene, soon to be named dystrophin, on the X chromosome. The gene, when mutated, reacted by causing Duchenne muscular dystrophies. During 1987, the protein in relation to the gene discovered a year early was officially classified and named dystrophin. Duchenne Muscular Dystrophy (DMD) develops due to the mutated gene failure to supply active dystrophin. This minimum amount of dystrophin affects the body by developing muscle damage and continued weakness from early life.

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.

When looking at a potential therapy or cure, it is important to recognize exactly how the disease affects the body. Duchenne Muscular Dystrophy (DMD) is one of the most severe myopathies, or muscle diseases (Cacchiarelli et al). To be diagnosed with DMD, a patient must have a mutation in the dystrophin gene present (Muscular Dystrophy Association). Moreover, that mutation in the gene is what causes the lack of dystrophin synthesis. Dystrophin is protein in the body that keeps the muscles intact (Muscular Dystrophy Association). Therefore, a lack of dystrophin causes the muscles to deteriorate; which is identified as dystrophy. When the body lacks strong healthy muscle, it does not only become weak; the body itself begins to shut down. Our organs depend on the muscles that allow us to walk, eat, and breathe to provide energy, nutrients, and oxygen. For this reason, DMD eventually leads to a short life.

While performing the off-centre attitude in parallel different groups of muscles contract to produce movement needed to execute this balance.

Duchenne muscular dystrophy (DMD) is caused by a mutated gene in the X chromosome. This flawed genes is passed on by the mother. However, most carrier of the gene do not show signs or symptoms of the disease. The The flawed gene causes the improper production of the protein dystrophin which is accompanied by “defective dystrophin-glycoprotein complex (DGC) in the sarcolemma and leads to progressive muscle degeneration” (Nakamura & Takeda, 2011). The Dystrophin protein is vital in providing a muscle integrity. Therefore, the absence of dystrophin production can lead to muscled atrophy.

Myasthenia Gravis is a weakness and rapid fatigue of muscles under voluntary control. This disease is caused by an interruption in communication between nerves and muscles at the neuromuscular junction; this is the place where nerve cells connect with the muscles they control. The muscle weakness increases through periods of activity and then improves during rest. For example, muscles that control eye and eyelid movement, facial expression, chewing, talking, and swallowing, these are the most often muscles affected. Other muscles that can be affected are muscles that control breathing and neck and limb movement can be affected. Symptoms include, difficulty swallowing, double vision, unsteady walk, weakness in arm and leg muscles, and difficulties

According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or

Myasthenia Gravis, commonly abbreviated MG, literally means "grave muscle weakness". This autoimmune disease is characterized by antibodies being misdirected to block ,alter, or destroy acetylcholine (ACh) receptors at the motor end plate in the neuromuscular junction. ACh is the neurotransmitter used by motor neurons to stimulate skeletal muscle fibers to contract and as receptors for this neurotransmitter are increasingly attacked, it becomes more difficult for individuals to move their muscles. The hallmark of MG is muscle weakness that increases during periods of activity and improves after periods of rest. Any voluntary muscle is at risk of being affected but those that control eye and eyelid movement, facial expression, and swallowing are most frequently affected. The degree of muscle weakness can range from these localized

Currently, there are 9 major forms of muscular dystrophy which include: Myotonic, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss, and Duchenne muscular dystrophy (Mayo Clinic, 2014). For the purpose of this paper, the cause, as well as the impact of Duchenne muscular dystrophy on development, will be discussed.

It is only recently that medicine, biology and even health care have become not only a primary concern of society but also one of the central focuses of mainstream media. Indeed it is rare that a day goes by without an article on these topics on the cover of newspapers such as The New York Times. Whereas this type of information used to be reserved for people in the field, daily program's such as CNN's Your Health have brought the science and the debates around it to the center of our society. This essay shall focus on one of the most talked about, common and painful genetic disorders. After explaining what the symptoms and causes for muscular dystrophy are we shall reflect upon the moral, ethical and practical

Muscular dystrophy is a disease with different versions that effect most body systems. The main systems are the heart, eyes, spine, brain, nervous respiratory, musculoskeletal and endocrine system. The main purpose of all nine major types of muscular dystrophy is ongoing condition that makes your muscles weak resulting in loss of mass/functions. A person with muscular dystrophy lifestyle would be affected depending upon what type they have. It will have a huge effect on activated due to muscle weakness but for the most part they should be

Now different types of MD affect different types of muscles. For example, Duchenne and Becker (DBMD) mainly affects the upper arms and upper legs first, whereas Myotonic Muscular Dystrophy (MMD) usually affects the Face, neck, arms, hands, hips, and lower legs first. The muscles in our body help us in our everyday routine, ranging from being able to lift heavy object, to being able to do something as simple as walking. Since MD targets the muscles it becomes difficult to near impossible to accomplish these tasks. It is common for people who have had MD for 5 years or more to be stricken to a wheelchair because the muscles in the legs have weakened to the point of non-existence.

Skeletal muscle plays a pivotal role in regulating systemic glucose homeostasis in part through the conserved cellular energy sensor AMP-activated protein kinase (AMPK). AMPK activation increases glucose uptake, lipid oxidation and mitochondrial biogenesis, thereby enhancing muscle insulin sensitivity and whole-body energy metabolism. Here we show that the H19 long noncoding RNA (lncRNA) post-transcriptionally increases expression of the atypical dual-specificity phosphatase 27 (DUSP27) which forms complexes with and activates AMPK in muscle. Consistent with decreased H19 expression in muscle of insulin resistant human subjects and rodents, mice with genetic H19 ablation exhibit musclesystemic insulin resistance and altered whole-body

We learned through research that myasthenia gravis and myotonic muscular dystrophy are two common forms of muscular disorders. Myasthenia gravis is a neuromuscular disorder that usually occurs in the arms, head and chest (2). Its symptoms include limb weakness, drooping eyelids, impaired vision, difficulty chewing and swallowing, slurred speech, difficulty breathing and abnormality of the thymus gland (3). Myotonic muscular dystrophy is one of many forms of muscular dystrophy that is characterized by muscle wasting and myotonia or the inability to relax muscles (4). Its symptoms include, but are not limited to drooping eyelids, cataracts,

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.