...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 cases...
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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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...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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...Muscular Dystrophy Disease diary #2 Today I will be explaining Muscular Dystrophy and all of the types. So let’s start off with what it is. Muscular Dystrophy is an inherited disease that causes muscles to progressively become weaker. In some forms it causes the heart and organs to weaken. Some forms only appear in men but many are in both men and women. There are eight major types of Muscular Dystrophy that I will be explaining next. So let’s move on to see what kind of Dystrophy there is. The first type is called Myotonic. This form appears most common in adults but can appear mainly from childhood to adults. This can appear in newborns but it is very rare. The next type is Duchenne. This is one of the types that only appear in men. It affects 1 in 3500 people. Most people affected in this form usually die before age 20....
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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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...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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...1) The types of muscles that are affected by Duchene Muscular Dystrophy are skeletal and cardiac muscles. 2) The protein that composes the Thick filament are called myosin. The proteins that compose the thin filament are called actin. The myofilment that troponin is associated with is actin. 3) The role of calcium in muscle contraction is to bond with the troponin, which allows the tropmyosin to move its potion that is blocking the active sites on actin filaments so cross bridges can attach. The calcium regulates muscle contractions. 4) Acetylcholine is the neurotransmitter that is released by motor neurons. 5) A motor unit is a combination of a motor neuron that is connected to a multitude of different skeletal muscle fibers. Semimembranosus...
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...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 is often much more severe and needs more aggressive treatment than other forms of...
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...This weekend, the Muscular Dystrophy Association nationally broadcasted the 48th annual telethon over Labor Day weekend, successful raising $59.6 million. Starting on Sunday, there was a two hour “MDA Show of Strength” that aired on ABC with the President and CEO, Steven M. Derks, addressing how the money raised will be applied towards treatment of muscular dystrophy and related diseases, as well as funding for research to find a cure. The total amount of money raised had been donated from pledges during the show and went through midnight Monday. It also included money that had been raised by MDA sponsors. For this event, many celebrities helped make it a success. The highlights of this telethon included having the Backstreet Boys open the show with a dual performance of “In a World Like This” and “I Want It That Way.” During this national broadcast, there were performances by teen pop sensation Austin Mahone, who was the 2013 MTV VMA recipient for “Artist to Watch,” performing his hit single “What About Love”. Country star Darius Rucker performed “Radio” and “Glee” actor/singer Matthew Morrison performed “On the Street Where You Live.” There were also performances by music artists Lee Ann Womack and Luke Bryan. In addition to these performances, there were also celebrity appearances by Ryan Seacrest, Paula Abdul, Enrique Iglesias, “American Idol” runner-up Jessica Sanchez, Universal recording artist and star from “The Voice” Chris Mann, and hip-hop dance crew Jabbawockeez. ...
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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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...that the cells are dying and bursting. The contents of the cells are being released into the bloodstream leading to the symptoms of Rhabdomyolysis. There are many different causes leading to Rhabdomyolysis and they can be classified into two categories known as environmental causes and internal causes. Two environmental causes are: The use of alcohol or illegal drugs such as heroin, cocaine or amphetamines and a crush injury such as from an auto accident, fall, or building collapse. Two internal causes are: Extreme muscle strain, especially in someone who is an untrained athlete and also blocked blood vessels can cause this along with diseases of the muscles (myopathy) such as congenital muscle enzyme deficiency or Duchenne's muscular dystrophy. Rhabdomyolysis is treatable and patients may recover quickly if the disease is caught in its early stages. Treatment with intravenous (IV) fluids helps maintain urine production and prevent kidney failure. Rarely, dialysis treatment may be needed to help your kidneys filter waste products while they are recovering. Management of electrolyte abnormalities (potassium, calcium and phosphorus) helps protect your heart and other organs. You may also need a surgical procedure (fasciotomy) to relieve tension or pressure and loss of circulation if compartment syndrome threatens muscle death or nerve damage. In some cases, you may...
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...Muscular I. Introduction of the disease A. Muscular dystrophy B. Muscular dystrophy-is a group of muscle diseases that weaken the musculoskeletal and hamper C. I pick this disease because it sounded interesting II. Causes A. How can a human being contract (get) this disease? 1. the most common form of muscular dystrophy in children is Duchene muscular dystrophy (DMD). Becker muscular dystrophy (BMD) is also relatively common. They are similar and are caused by mutations in the same gene, but BMD is less severe than DMD. 2. You can be born with this disorder 3. And it’s a genetic disorder B. Is this disease contagious? no III. Symptoms A. Poor balancing B. Frequent falls C. Limited range movements D. Inability to walk IV. Treatment A. Corticosteroids, such as prednisone, may help improve muscle strength and delay the progression of certain types of muscular dystrophy. But prolonged use of these types of drugs can weaken bones and increase fracture risk. B. Several different types of therapy and assistive devices can improve quality and sometimes length of life in people who have muscular dystrophy. C. Surgical remedies are an option for several of the problems common to muscular dystrophy, such as: Contractures. Tendon surgery can loosen joints drawn inward by contractures. Scoliosis. Surgery may also be needed to correct a sideways curvature of the spine that can make breathing more difficult. C. V. Cures-doesn’t have any cures-doesn’t...
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...Proposal: “The 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...
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...Domain and Kingdom: Eukaryota, Animalia My favorite sequence is: Dystrophin gene This sequence codes for: Dystrophin gene codes for an important muscle protein called dystrophin that helps maintain and hold together the structure of muscle cells. Localization: The DMD gene is located on the short (p) arm of the X chromosome at position 21.2. In a membrane-spanning protein complex it is located at the muscle sarcolemma that connects the cytoskeleton to the basal lamina. Gene expression: In the Dystrophin gene, there are 7 tissue-specific promoters. The promoters responsible for transcription are dp427m, dp427c, dp427p, dp260, dp140, dp116, and dp71 respectively. Its expression in muscle cells is brought by dystrophin promoter bending factor (DPBF) and the binding of positive regulators serum response factor on a regulatory CArG element present on the promoter. RNA processing: Numerous phosphorylation sites were identified in dystrophin that are believed to regulate its interactions with dystrophin-glycoprotein complexes, cytoskeletal, and signaling proteins. Listed are the protein kinases and their effected changes. cAMP-dependent protein kinase (PKA) Indirectly produces a conformational change in the N-ABD, enriching its affinity for myofibrillar actin Protein kinase C (PKC) An inhibitory effect on the dystrophin-actin interaction Casein kinase II (CKII) An inhibitory effect on the dystrophin-actin interaction Glycogen-synthase kinase (GSK3) Inhibitor of ERMS growth inhibiting...
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