...Introduction Duchenne muscular dystrophy, named after the neurologist who first described it, Guillaume Benjamin Amand Duchenne in the 1800, is a common type of muscular dystrophy among children, in which the muscle becomes weak and degenerates progressively. Prior to 1986, there was very little information before MDA-supported researchers succeeded in the identification of the particular gene on the X-chromosome that after mutation led to the disease (MDA, 2016). The gene was identified and named as dystrophin. Dystrophin is a protein that aids in keeping the muscles together. Duchenne muscular dystrophy is heritable as an X-linked recessive gene and is passed by the mother who is often referred to as a carrier. The disease majorly affects...
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...Duchenne Muscular Dystrophy Duchenne muscular dystrophy (DMD) is a common disorder affecting the muscular system. This form of muscular dystrophy is inherited and is caused by a genetic mutation that affects the dystrophin proteins of the muscles. Dystrophin is the largest gene known to man. (Tennyson, Klamut, Warton 1995). Hundreds of genes are responsible for producing the proteins that protect these muscle fibers from damage. In DMD, the dystrophin gene is defective. Where most forms of muscular dystrophy worsen slowly over time, Duchenne grows worse quite rapidly. Duchenne muscular is linked to the X-chromosome so the mother carries the disease and the defective gene but will likely never show symptoms. Their sons will each have a 50% chance of getting the disease and their daughters will each have a 50% chance of being carriers of the disease (Bushby, Finkel, Birnkrant, Case, Clemens, Cripe, Kaul, Kinnett, McDonald, Pandya, Poysky, Shapiro, Tomezsko, Constantin, 2010). The women who are carriers will pass the gene onto their children. One in every 3,500 live male births are diagnosed with Duchenne muscular dystrophy (Chen, Ma, Zhang, Chen, Xing, Wang, Zhang, Luo, 2014). Most of these diagnoses have a line of family history with Duchenne muscular dystrophy that they were unaware of because it had not shown up in several generations. Females who are diagnosed with Duchenne muscular dystrophy and show symptoms tend to have very mild cases compared to those cases of males...
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...Duchenne Muscular Dystrophy is one of the most common forms of muscular dystrophy, it can be detected genetic studies during pregnancy. Even though the disease may be identified, there is still no way to prevent it. One in every 3,000 children are born with this condition.(Duchenne Muscular Dystrophy Facts and Information (2009-03-01)) Duchenne Muscular Dystrophy (DMD) is a genetic degenerative diseases that affects voluntary muscles and causes intense muscle pain. Other areas such as the brain, throat, heart, diaphragm, stomach, intestines, and spine can also be affected by this disease. Symptoms usually appear in male children before age 6 and may be visible in early infancy. To diagnose DMD, a muscle biopsy can be done to look for abnormal...
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...performance. (Yang, MacArthur, & North, 2003) The amount of muscle growth that develops is under the strickt control of myostatin, a protein created by the gene GDF-8, or the MSTN gene. Myostatin determines exactly how large a muscle can become by inhibiting muscle growth and regulating muscle breakdown. This protein is part of the transforming growth factor beta superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. (MSTN, 2013) Myostatin is found almost exclusively in skeletal muscles, where it is active both before and after birth. Myostatin reduces protein synthesis and activates muscle protein breakdown, contributing to muscle regulation in two distinctly different ways. Studies have shown that when MSTN is overexpressed, muscle cells have reduced protein synthesis and smaller fibers. Research in healthy individuals showed an increase in human MSTN expression when not using the muscles, as seen with inactivity, bedrest, or spaceflight, and conversely, myostatin protein and its role in limiting muscle mass reduced with heavy resistance training. Myostatin gene expression seems to be higher in young men when compared to women or older individuals, but men also exhibited the greatest reductions following resistance training. As the muscles reach their limits the myostatin steps in to prevent any further growth by breaking down the muscle proteins. Natural mutations and knockouts in animals...
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...Clinical treatments of muscular diseases differ from case to case which includes medication testing that works on alleviating the diseases' symptoms. Myopathies' treatment relies on upon its cause (Gupta, 2014). The objectives of myopathy treatment are to abate the development of the disease and alleviate symptoms. Muscular and inflammatory dystrophies' treatments range from treatments using drugs to bypassing circumstances which makes muscles make a lot of effort for metabolic myopathies. Doctors often advise myopathy patients to lose weight and keep it low; as a lighter body needs less effort from the muscles. Also they advise them to abstain from making the muscles to fatigue. At the point when breathing issues appear, some patients use...
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...Case Study: RÈJEANNE Roles- Respondent Lawyer Health Concerns What Is Scoliosis? It’s not a disability, it’s a condition making the argument against the city that she is a handicap invalid. Technically she’s not a handicap- If you can no longer work due to scoliosis, you may be eligible to receive Social Security Disability benefits which she did not apply for at the time. Scoliosis is a lateral (toward the side) curvature in the normally straight vertical line of the spine. When viewed from the side, the spine should show a mild roundness in the upper back and shows a degree of swayback (inward curvature) in the lower back. Types of Scoliosis – conditions 1. Neuromuscular scoliosis. A result of abnormal muscles or nerves. Frequently seen in people with other disorders, including other birth defects such as muscular dystrophy, cerebral palsy, Spina bifida or Marfan syndrome (an inherited connective tissue disease) those with various conditions that are accompanied by it, result in, paralysis. : In this type of scoliosis, there is a problem when the bones of the spine are formed. Either the bones of the spine fail to form completely or they fail to separate from each other during fetal development. People with these conditions often develop a long C-shaped curve and have weak muscles that are unable to hold them up straight. If the curve is present at birth, it is called congenital. (Congenital scoliosis caused by a bone abnormality present at birth .This type of scoliosis...
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...taking creatine in supplement form might enhance physical performance. In the 1990s, athletes started to catch on, and creatine became a popular sports supplement. According to studies, 8% of adolescents take creatine. The supplement is particularly popular among high school, college, and professional athletes, especially football and hockey players, wrestlers, and gymnasts. An estimated 40% of college athletes and up to half of professional athletes say they use creatine supplements. Creatine is thought to improve strength, increase lean muscle mass, and help the muscles recover more quickly during exercise. This muscular boost may help athletes achieve bursts of speed and energy, especially during short bouts of high-intensity activities such as weight lifting or sprinting. I will now discuss the 7 most controversial creatine topics 1 Creatine is similar to anabolic steroids. Myth. Steroids mimic testosterone and are banned in the Olympics and in professional sports. By contrast, the International Olympic Committee, professional sports leagues, and the National Collegiate Athletic Association do not prohibit creatine. (The NCAA won’t let colleges give it to athletes, though.) 2 Creatine can help you build muscle mass without hitting the gym. Myth. It shows some improvement in kids with muscular dystrophy, even if they’re not exercising, but...
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...Pathophysiology essay Lung compliance and its disorders Philippe Wöllenstein Study group 3052; Topic No.62 29.04.2015 ------------------------------------------------- Abstract ------------------------------------------------- The essay comprises an introduction explaining the term pulmonary compliance. The next section includes a definition and characteristics of the group of diseases-restrictive pulmonary disorders. Further on a short summary of restrictive lung diseases and especially their cause follows trying to contribute a better knowledge of the topic to the reader. In the end the reader can find a short conclusion. Table of contents General information about lung compliance Restrictive pulmonary diseases intrinsic restrictive lung diseases Extrinsic restrictive lung diseases 1. Neurological disorders 2. Neurodegenerative-autoimmune-inherited disorders III. Conclusion IV. Resources I. General information about lung compliance Compliance is a measure of the elasticity of body tissues. The latter specifies how much gas or liquid can be filled in a closed system until the pressure rises up to one pressure unit. To understand the mechanism of the pulmonary compliance it is important to define the The alveolar pressure first. The latter is the pressure found inside the alveolus at any instant of the respiration. Thus at resting position, without any air flowing in or out of the lung , the pressure found in the alveolus is equal 0cm...
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...Clinical and pathologic aspects of congenital myopathies Ikuya NONAKA MD National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan Abstract The term “congenital myopathy” is applied to muscle disorders presenting in infancy with generalized muscle weakness and hypotonia followed by delayed developmental milestones. The myopathy has been differentiated diagnostically on the basis of their morphologic characteristics and includes nemaline myopathy, central core disease, myotubular (centronuclear) myopathy and congenital fiber type disproportion. In most of these disorders, there are 3 distinct subtypes: severe infantile, benign congenital and adult onset forms. The mode of inheritance and gene loci are variable, although each disorder shares the common clinical features including facial and prominent neck flexor weakness and preferential respiratory muscle involvement. All mutations identified in nemaline myopathy are localized to the actin filament components, suggesting that the disease is related to sarcoplasmic thin filaments or Z-protein abnormalities. On the other hand, X-linked myotubular myopathy has mutations in a family of tyrosine phosphatase (myotubularin gene) and central core disease in ryanodine receptor gene. In all these disorders, the common pathologic features are small muscle fibers with type 1 fiber atrophy and predominance, which account for the small muscle bulk and generalized muscle weakness. INTRODUCTION NEMALINE MYOPATHY The term congenital...
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...The Avenger’s Movie Premiere A night at Cowboy's Stadium Benefiting: Children's Medical Center of Dallas Table of Contents Executive Summary.......................................................................3 Background Dallas Chamber of Commerce………………..……………….4 Cinemark…………………………………………………………4 Children’s Medical Center of Dallas.......................................5 Event Details VIP.........................................................................................6 General Admission................................................................7 Timeline………………………………………………………………...8 Budget..........................................................................................9 Appendix A Case Studies…………………………………………...10 Appendix B Letters of Recommendation..………………..……….11 Appendix C Assumptions....………………………………………...14 Appendix D Citations..…………..………...………….……………..15 Appendix E Stadium Map………………………………………...…16 Appendix F Parking Map…………………………………………....17 Executive Summary Want to see the biggest movie of summer 2012 on the biggest high definition screen in the world? Cinemark Theaters presents a movie premiere featuring Marvel Studios’ “The Avengers”, the most anticipated movie of 2012 at Cowboys Stadium in Arlington, Texas. Along with a VIP party before the screening of the movie, this event will be to benefit medical research for Children’s Medical Center of Dallas. The VIP guest list will include...
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...In order to discover the ways for the remedy of diseases, studies in therapeutic approaches have been doing widely and kept increasing at accelerated pace. A lot of research areas had emerged for that purpose including one of the most fascinating and highly active areas at present, stem cells therapies. Due to self-renewal property and differentiation capability of stem cell, it becomes a new hope in modern treatment. The first successful case of stem cell therapy in human was reported in 1959. Bone marrow restorations were observed in leukemia patients who received total body irradiation subsequent by intravenous injection of their twins’ bone marrow (Thomas et al, 1957). Nevertheless, that effect was transient and the following bone marrow transplantation attempts in non-twin patients and donors can eventually lead to patient’s death from graft-versus-host disease (Mathé et al, 1965). During that time, the safety of hematopoietic cells transplantation was not guaranteed because of the limited knowledge in human histocompatibility and immunosuppression. However, the turning point came after the discovery of human leucocyte antigen (HLA) groups (Dausset, 1958; van Rood et al, 1958), HLA typing and compatibility testing were performed prior to the transplantation. In addition, the improvement of immunosuppressive protocol also helps bringing the bone marrow transplantation to become more and more successful (Donnall and Hutchinson, 1999). Although the success rate of hematopoietic...
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...Instructions: 1. Download and Save this file with your name in the file name. (ex: Skeletal System Case Study-CharlieBrown) 2. Type your name in the header of this document. 3. Read the following case study. 4. Answer all the questions that follow by typing in your answer directly underneath each question. Be sure to answer each question completely. 5. When you finish, be sure to save the entire document for submission to your instructor. 6. Submit your document by the due date listed in your syllabus. Submission should be through the ASUN Portal. Upload your completed document—make sure the file you upload and mark as final has your answers typed in it! Note: You must UPLOAD the document and MARK AS FINAL for it to be properly “turned in” through the Portal. 7. Participate in the Class Discussions of this Case Study—this will be completed on the Discussion Forums page within the ASUN Portal. 8. Email me if you have any questions. The Skeletal System - Aging and Disease The skeletal system is required for nearly every body movement. It also supports the body at rest, protects vital organs, and produces blood cells. However, like any other system, it is susceptible to disease. Different diseases become more (or less) likely as the body ages. A few common diseases include scoliosis, arthritis, and osteoporosis Scoliosis Scoliosis is defined as an “s” or “c” shaped spinal curvature. It is most often diagnosed during adolescence...
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...In order to discover the ways for the remedy of diseases, studies in therapeutic approaches have been doing widely and kept increasing at accelerated pace. A lot of research areas had emerged for that purpose including one of the most fascinating and highly active areas at present, stem cells therapies. Due to self-renewal property and differentiation capability of stem cell, it becomes a new hope in modern treatment. The first successful case of stem cell therapy in human was reported in 1959. Bone marrow restorations were observed in leukemia patients who received total body irradiation subsequent by intravenous injection of their twins’ bone marrow (Thomas et al, 1957). Nevertheless, that effect was transient and the following bone marrow transplantation attempts in non-twin patients and donors can eventually lead to patient’s death from graft-versus-host disease (Mathé et al, 1965). During that time, the safety of hematopoietic cells transplantation was not guaranteed because of the limited knowledge in human histocompatibility and immunosuppression. However, the turning point came after the discovery of human leucocyte antigen (HLA) groups (Dausset, 1958; van Rood et al, 1958), HLA typing and compatibility testing were performed prior to the transplantation. In addition, the improvement of immunosuppressive protocol also helps bringing the bone marrow transplantation to become more and more successful (Donnall and Hutchinson, 1999). Although the success rate of hematopoietic...
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... Some physical disabilities may improve over time and others can be treated through medication or physical therapy. It can be a huge challenge, having a disability; it can mean drastically changing the way you live or merely changing some aspects of your life. Children and adults with physical disabilities have the same basic needs as other children and adults. There is a wide range of physical disabilities that one can have. These include those such as cerebral palsy, whose patients may have limited motor skills, speech difficulties, learning disabilities, or other problems. Muscular dystrophy, an inherited disorder of the muscles in which the muscles become very weak and are replaced with fatty deposits over time. Another is congenital heart problems, which is a malformation of the heart or blood vessels near the heart, this is a disability that you must be born with. Blindness, in which some cases are worse then others, weather you legally blind or completely lacking sight. Last are the deaf, who either wholly or partly lack the sense of hearing. Regardless of what disability a person has they still need ordinary things such as a good diet, as much regular physical activity as possible, and the appropriate amount of rest and sleep. But in order to function everyday and live life to the fullest some with physical disabilities may require specially adapted equipment such as a wheelchair, speech synthesizer, or a computer printer that...
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...framework of the body is composed of at least 206 bones and the associated tendons, ligaments, and cartilages. The skeletal system has a variety of important functions, including the support of soft tissues, blood cell production, mineral and lipid storage, and, through its relationships with the muscular system, the support and movement of the body as a whole. Skeletal system disorders can thus affect many other systems. The skeletal system is in turn influenced by the activities of other systems. For example, weakness or paralysis of skeletal muscles will lead to a weakening of the associated bones. Although the bones you study in the lab may seem rigid and permanent structures, the living skeleton is dynamic and undergoing continual remodeling. The remodeling process involves bone deposition by osteoblasts and bone resorption by osteoclasts. As indicated in Figure A-16, the net result of the remodeling varies depending on: 2. The applied physical stresses: Heavily stressed bones become thicker and stronger, and lightly stressed bones become thinner and weaker. Skeletal weakness can therefore result from muscular disorders, such as myasthenia gravis (p. 66) or the muscular dystrophies (p. 65), and conditions that affect CNS motor neurons, such as spinal cord injuries (p. 75), demyelination disorders (p. 72), or multiple sclerosis (pp. 72, 82). 3. Circulating hormone levels: Changing levels of growth hormone, androgens and estrogens, thyroid hormones, parathyroid hormone, and...
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