...Geralyn Caplan Pathology 3 November 2014 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...
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...Duchenne Muscular Dystrophy Imagine you’re going to be a new parent to a baby boy who will grow up being able to run, being able to ride his bike and being able to play various sports. Now imagine that you’re going to be a new parent to a baby boy who will start his life and be able to run around, be able to ride his bike and be able throw a ball just like any normal child. However, by around the age of 12 he will be unable to walk. This circumstance could be brought on by an incurable muscle weakening disorder called Duchenne Muscular Dystrophy. Although, there are many different forms of Muscular Dystrophy; Duchenne Muscular Dystrophy or DMD as it’s commonly known is the most common form. DMD is a neuromuscular disorder caused by a flawed gene for dystrophin (a protein in the muscles). A neuromuscular disorder affects nerves that control voluntary muscles. Every 1 out of 3600 males inherit this disorder; while it is extremely rare for a female to inherit it. Unfortunately, someone with DMD may not make it through their late teens or early adulthood. Living with Duchenne Muscular Dystrophy is challenging and makes everyday life a struggle not only for the person living with it but for the family as well. There is currently no cure for DMD but luckily there is some hope. Many young boys dream about being able to play a professional sport when they grow up. Their mother’s and father’s devote their time taking their child to practices and games in order for their child to reach...
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...Duchenne Muscular Dystrophy Duchene Muscular Dystrophy is a genetic disorder that is distinguished by progressive muscle degeneration and weakness. This genetic disorder is cause by an absence of Dystrophin . The onset of symptoms begin early in childhood between the age of three and five. This disease primarily affects males, but in some rare cases it has also affected females. What are the symptoms? As early as three the signs of muscle weakness begin to appear. The first muscles to be affected are the hips, pelvic area, thighs, and shoulders. Later on the voluntary skeletal muscles in the arms, legs, and trunk areas are affected. The calves of those affected are usually enlarged. The heart and respiratory system are affected beginning...
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...May 6, 2009 — Duchenne muscular dystrophy (DMD), an X-linked disorder, is the most common muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. Patients usually become wheelchair-bound by the age of 12 years, and die of cardiorespiratory complications in their late teens to early twenties. Advances in the management of DMD, including treatment with corticosteroids and the use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. The clinical features, investigations, and management of DMD...
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...Ever seen someone struggle with a rare disease? Frank Dinucci is a common person, who was shattered when he saw his 3-year-old son diagnosed with Duchenne Muscular Dystrophy. A rare degenerative genetic muscle disease, Duchenne Muscular Dystrophy leaves a sufferer with a life expectancy of 30 years. Earlier the disease had the life expectancy till teenage; Frank’s efforts and dedication have helped the researchers to find an ultimate cure for it. This disease is a sex-linked disease and only affects the boys at a young age. It encumbers the production of muscles cells in the body that holds the cellular membrane together. Young boys bound to a wheelchair in most cases, as they lose the ability to create that protein entirely. They experience...
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...Duchenne Muscular Dystrophy Muscular Dystrophy is a genetic disorder that causes one muscle weakness. This genetic disorder prevents the body from a protein that is integral for the body to build muscles and to build strength in the muscles, as well. There are several different types of muscular dystrophy and the symptoms of each may vary. The most commonly known muscular dystrophy is known as Duchenne Muscular Dystrophy. This genetic disorder prevents one from all types of muscle movement at such a young age in life. Duchenne Muscular Dystrophy is a genetic disorder that progressively degenerates the muscles and causes weakness. This genetic disorder is caused by the missing protein, dystrophin, which aids in keeping the muscles intact. Without...
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...effects of taking a break during physical therapy for patients with Duchenne muscular dystrophy” HSC 4730 Background: Duchenne Muscular Dystrophy (DMD) or medically known as pseudohypertrophic muscular dystrophy is a genetic, degenerative disorder found predominantly in males. It is a recessive X-linked chromosome that affects approximately 1 in 3,500 male’s worldwide.3 The boys found with Duchenne’s have an absence of the protein, dystrophin, leaving them with continuing loss of muscular function.7 Regardless of current efforts, by the age of twelve, most who suffer from DMD depend upon a wheelchair for mobility.13 The purpose of the study is to delay the progression of DMD in boys between five to ten years of age. The intervention for the study is to apply a period of rest in their physical therapy to allow for their central nervous system to process the information. The central nervous system can take between seven to fourteen days to process information in order for the body to recover.2 With the recovery time given to these patients, we can determine a successful intervention or one that further deteriorates muscle mass. The time breaks allow the central nervous system (CNS) a set period of recovery in order to determine a change in the muscular degeneration rate. Corticosteroids are a steroid hormone produced in the adrenal cortex. It can also be synthetically made and regularly prescribed to patients with DMD. Corticoid steroids, along with physical therapy, are used to...
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...to provide mechanical reinforcement to the structure of the sarcolemma and protect the membrane from stress or tearing during contraction. Duchenne muscular dystrophy is an inherited neuromuscular disorder that affects the musculoskeletal system, and is caused by a genetic mutation which disrupts the production of dystrophin. It causes progressive loss of muscle mass and eventually leads to death of the muscle tissue. The main symptom of muscular dystrophy is progressive muscle weakness. However, different signs and symptoms begin at different ages and in different muscle groups depending on the specific type of muscular...
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...Muscular Dystrophy, or MD, is a mutation that obstructs the production of proteins that is necessary to create healthy muscles. This generates weakness in the body and limits it from functioning properly. The disease can become so terrible that a person with it can no longer do simple tasks with their arms, legs, and extremities such as hands and feet. The cause of MD is due to the lack of dystrophin, a protein found on the X chromosome, which keeps the muscles together. Symptoms of this disorder usually manifest themselves as early as the age of two and three years of age. These signs typically are muscle weakness, the difficulty or inability to stand properly, trouble learning or behavioral problems, not being able to sit or walk without assistance, waddling gait, walking on only the front (toes and balls) of the feet, clumsiness, trouble climbing stairs, not being able to rise from a downward position such as sitting or lying, calves that are larger than usual and sometimes painful, scoliosis (curved spine), and difficulty breathing....
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...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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...affected” (Meštrović, "CRISPR: Ethical and Safety Concerns"). Currently Crispr is being tested on mice to see if scientists can potentially eradicate genetic disease in any species. Crispr can be used to target the DNA that cause genetic disease; first scientists modify Crispr to search the different DNA strands comparing them to a sample of the disease. When it finds the sequence that matches the sample it has, it will cut out that sequence and let the DNA repair itself. In an experiment scientist injected mice born diagnosed with DMD (a muscle disorder passed down through genetics) with Crispr that was engineered to target the DMD strand of DNA. The experimenters data showed that 80% of all the mice treated began to recover from DMD after treatment.(Cara, "Using CRISPR, Scientists Rewrite Defective Muscular Dystrophy Gene in Mice; A Series of Studies Using Mice Suggests That Gene-editing May Someday Help People Suffering from Duchenne Muscular Dystrophy") This shows just some of the potential Crispr can have. As technology continues to get better and better Humans ability to cure disease will improve. What about Non-Human Organisms? Currently Humans have rudimentary ways (Selective breeding with both Plants and Animals is most common currently) of controlling the genetics of food, but using Crispr people can physically change the traits a plant has without the use of selective breeding. This allows for quick easy crops with desirable traits such as, larger produce, resistance to...
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...24 November 2013 Genetics and Muscle Growth An individual's genetic profile can play a role in defining their natural skills and talents. Muscle growth is one of those things that can be defined by genetics. Genes determine between 20-80% of the variation in traits like oxygen intake, cardiac performance, and muscle fiber composition. More than 150 genes have been linked to different aspects of physical 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...
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...DNA Mutations- The Consequences Introduction Deoxyribonucleic acid, which is more commonly known as DNA, is the hereditary material in almost all organisms. Its purpose is to store and retain the genetic information needed to be able to construct as well as maintain an organism such as a human being. Due to this people like to say that it is seen as the blueprint of life, as it contains the instructions for everything a part of you, such as eye color, height, hair type and several more. It truly controls the development of a living organism making each and every one unique in their own manner; it is also able to pass down information as well. Deoxyribonucleic acid is typically found in the cell nucleus, and due to this it is given the name nuclear DNA, it can also be located in the mitochondria and be called mitochondrial DNA. The main components of DNA are: a phosphate group, 5 carbon sugar and a nitrogenous base. The four nitrogenous bases are adenine, guanine, thymine, as well as cytosine. The order and sequences of these bases determine information to help build as well as maintain an organism or to allow for different information to be transmitted from one and another. Each of the bases is attached to sugar and phosphate molecules which are held together by phosphodiesterase bonds. Together they form what is called a nucleotide. Nucleotides are arranged in two long strands, these strands form something known as a double helix. By doing so it allows for more DNA...
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... Moreover, they proposed that the results from animal testing are not convincing because they are not accurate. Although results from animal testing has not been proven to be accurate, animal testing plays a huge role in medical field therefore it should not be banned because it has the potential to cure illnesses that may affect a person’s life; it also allows the creation of many important medical techniques and most importantly animal testing can save lives. Animal testing is able to help procure remedies for people infected with illnesses that may cause physical impairment. An example of such disease that gradually causes physical impairment and has had its cure obtained through animal testing is diabetes. Moreover, “Duchenne muscular dystrophy” (DMD), which is an inherited muscle wasting disease affecting young boys” has its cure found...
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...Everyday patients place their trust in the hands of their doctors. Maintaining confidentiality ensures quality care by showing that patients can rely on physicians to cherish the bond of trust between the patient and doctors, and maintain privacy. When breaching confidentiality, professionals will need to make judgments about the significance of the information to both patients. The right to Helen’s confidentiality should be protected because the potential harm caused by breeching her confidentiality outweighs the potential benefits of Penelope being informed. Helen has a 4 year old son that has been diagnosed with Duchenne Muscular Dystrophy (DMD), which is an x-recessive genetic condition that is carried by girls but with very rare exceptions boys are affected. Helen is a carrier for the mutation, but it is said that only half of the women carriers’ sons will inherit it from them and will be affected. Helen has a sister, Penelope that is 10 weeks pregnant and is worried that her fetus may have the genetic problem. However, there is a one in four chance that a female will inherit the gene and become a carrier. Helen is aware her sister is pregnant and she feels if she tells her sister of her and her son’s diagnosis, Penelope would likely terminate the baby. Helen speaks to her medical providers and decides she wants the results to remain confidential and not be disclosed to her sister. Although it might seem morally right for Helen to share her medical information with her...
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