[23] Penetrance and severity seem to be lower in females compared to males. Duchenne muscular dystrophy is a genetic condition – it is caused by a mistake or mutation in the genetic code (DNA). [2] Most are unable to walk by the age of 12. Due to defects in this assembly, contraction of the muscle leads to disruption of the outer membrane of the muscle cells and eventual weakening and wasting of the muscle. In some cases, a person with a muscle disease will get progressively weaker to the extent that it shortens lifespan due to heart and breathing complications. Girls can occasionally be affected, although the condition tends to be milder. [1] Many people will eventually become unable to walk. In males, the lone X chromosome has only one dystrophin gene. DMD effects voluntary muscle, or skeletal muscle. It affects about one in thirty-five hundred boys. It is caused by a defective gene called dystrophin, which encodes for a muscle protein. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Duchenne occurs in approximately 1 in every 3,500 male births. [2] This can occur due to either inheriting the defect from one's parents or the mutation occurring during early development. Duchenne Muscular Dystrophy (DMD) which affects boys and causes their muscles to break down and become weaker over time Becker Muscular Dystrophy (BMD) again affects boys and is very similar to DMD but starts much later in life Dystrophin links actin in the cytoskeleton and dystroglycans of the muscle cell plasma membrane, known as the sarcolemma (extracellular). TIM: No. A significant number of Becker muscular dystrophy mutations are spontaneous and are not inherited from a parent. One type, the needle biopsy, involves the insertion of a needle in the muscle. Two types of biapsies are available to patients. Clinical signs include muscle weakness and wasting, starting in the distal limb muscles and progressing to involve the limb-girdle muscles. In the following decade,[36] French neurologist Guillaume Duchenne gave a comprehensive account of the most common and severe form of the disease, which now carries his name—Duchenne MD. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, … Symptoms appear in the individual as early as infancy and up to six years old and consist of: Fatigue, mental retardation, andmuscle weakness. The electrode picks up the electrical activity given off by the muscles. Duchenne muscular dystrophy(DMD) and Becker muscular dystrophy(BMD), a much milder form of the disease where the age of onsetcan sometimes be as late as the third or fourth decade of life, are caused by mutations in the same X-linked gene, a 14 kilobase (kb) transcript which is spread over more than 2 megabases of the human X chromosome. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. By age 10, the child may need braces for walking and by age 12, most patients are confined to a wheelchair. Children born with DMD have a fault, known as a mutation, on their dystrophin gene. Duchenne Muscular Dystrophy. Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness.It is one of nine types of muscular dystrophy. DMD typically appears between the ages of two with weakness in the pelvis and upper limbs, resulting in clumsiness, frequent falling, an unusual gait and … Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy. Duchenne muscular dystrophy, which represents about half of all cases of muscular dystrophy, affects about one in 5,000 males at birth. Muscular dystrophy is where the muscles weaken and lose muscle mass; in this case, both Duchenne and Becker muscular dystrophy are caused by a genetic mutation in the dystrophin gene. Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an eventually fatal disorder that is characterized by rapidly progressive muscle weakness and atrophy of muscle tissue. Duchenne Muscular Dystrophy, or DMD, is the most common form of the condition. In males (who have only one X chromosome) one altered copy of the gene in each cell is sufficient to cause the condition. [2] Some types are also associated with problems in other organs. This study was supported by funds from the National Institutes of Health (HL130253 and AR067294), the Wellstone Muscular Dystrophy Center (U54 HD 087351), the Robert A. Welch Foundation (grant 1-0025), the American Heart Association, and the Harry S. Moss Heart Trust (19PRE34380436). [23] The pattern of inheritance is autosomal dominant for the most common subtype (FSHD1); 30% of cases involve spontaneous mutations. Girls can be born with DMD, too. Sounds will also come from the machine and when the needle is initially inserted the sounds will be loud, but they will quiet down. Most doctors recommend that the patient stay active, since best-rest can lead to more complications. There … ", "Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease", "Becker muscular dystrophy: MedlinePlus Medical Encyclopedia", "Duchenne muscular dystrophy: MedlinePlus Medical Encyclopedia", "Duchenne and Becker muscular dystrophy - Genetics Home Reference", "Duchenne Muscular Dystrophy. Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscular dystrophies are a group of diseases that make muscles weaker and less flexible over time. But it's really rare. Muscular Dystrophy Muscular Dystrophy is an X-linked recessive disorder. The most common type is Duchenne muscular dystrophy (DMD), which typically affects males beginning around the age of four. The child on the right is using braces of help him walk. [citation needed] Many people will eventually become unable to walk. Wiki Version: (Current) Institute for Clinical and Economic Review: 2019-09-17 13:58:41+00:00 UTC (1) Institute for Clinical and Economic Review: 2019-09-17 13:58:14+00:00 UTC Final Evidence Report and Meeting Summary In addition to the myotonia and muscular dystrophy, … LGMD has an autosomal pattern of inheritance and currently has no known cure or … Other types don't surface until adulthood.There's no cure for muscular dystrophy. The Infected person cannot walk, run, or do many physical activities. The symp­tom of mus­cle weak­ness usu­ally be­gins around the age of four in boys and wors­ens quickly. Nevertheless, research has shown that a small minority of females having both a working and a non-working dystrophin gene can exhibit symptoms of DMD. Help BrainPOP Wiki answer the mysteries of life by expanding it! The disorder is X-linked recessive.About two thirds of cases are inherited from a person's mother, while one third of cases are due to a new mutation. The test is usually done while the patient is awake and a local anesthesia is applied to the biapsy area. Most patients also suffer from cardiac conduction defects and arrhythmias. ", "The Canadian experience with long term deflazacort treatment in Duchenne muscular dystrophy", "Cardiac Involvement in Patients With Muscular Dystrophies", "Molecular Diagnosis of Duchenne Muscular Dystrophy: Past, Present and Future in Relation to Implementing Therapies", "Muscular Dystrophy - Clinical trial details - NHS Choices", "The End of the Jerry Lewis Telethon—It's About Time", "Drug treatment of Duchenne musculardystrophy: available evidence and perspectives", "Congenital Muscular Dystrophies: A Brief Review", https://en.wikipedia.org/w/index.php?title=Muscular_dystrophy&oldid=991262055, Myoneural junction and neuromuscular diseases, Wikipedia articles needing page number citations from January 2020, Articles with unsourced statements from April 2019, Wikipedia medicine articles ready to translate, Creative Commons Attribution-ShareAlike License, In affected muscle (right), the tissue has become disorganized and the concentration of, Becker muscular dystrophy (BMD) is a less severe variant of. [40][41], National Institute of Neurological Disorders and Stroke, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Child Health and Human Development, Muscular Dystrophy Coordinating Committee, "NINDS Muscular Dystrophy Information Page", "Muscular Dystrophy: Hope Through Research", "Muscular dystrophy - Causes - NHS Choices", "Publication:Rigidity and flexibility in protein-protein interaction networks: a case study on neuromuscular disorders", "NIH /How is muscular dystrophy diagnosed? [10] Quality of life can be measured using specific questionnaires. The life expectancy is up to twenty-five years of age. [2] Diagnosis often involves blood tests and genetic testing. Most are unable to walk by the age of 12. [11], Age at onset is birth, the symptoms include general muscle weakness and possible joint deformities, disease progresses slowly, and lifespan is shortened. [1] Outcomes depend on the specific type of disorder. Girls can be born with DMD, too. [37], WHO International conducted trials on optimum steroid regimen for MD, in the UK in 2012. It is found across all cultures and races. To diagnose DMD, many doctors will perform a complete neurological, heart, lung and muscle exam. A special monitor, called an oscilloscope, is used to display the activity within the muscle. Gen đột biến là alen lặn không tạo ra dystrophin làm tế bào cơ tổn thương. Children with Duchenne MD usually start to have noticeable symptoms between 1 and 3 years of age. It is the mostimportant symptom that the disease causes. [35], Prognosis depends on the individual form of MD. Considered one of the most lethal disorders, Duchenne Muscular Dystrophy affects 20,000 children each year. Muscle weakness usually begins around the age of four, and worsens quickly. The most common type is Duchenne muscular dystrophy (DMD), which typically affects males beginning around the age of four. In the later future, Gene Therapy may be available. Helpful 0 Not Helpful 0 This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies. Symptoms appear in the individual as early as infancy and up to six years old and consist of: Fatigue, mental retardation, andmuscle weakness. DMD affects boys and, very rarely, girls. Edit. Retrospective analysis of a cohort of 48 Duchenne muscular dystrophy patients revealed that 43% of patients experienced ≥1 fracture. [1] Physical therapy, braces, and corrective surgery may help with some symptoms. Duchenne muscular dystrophy (DMD) is the most common type. Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. DMD leads a life of a quickly developing disability, meaning that a patient with DMD will not live a very long life. [6][7] [23][25], Myotonic MD type 1 (DM1) is the most common adult form of muscular dystrophy. Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy.The symptom of muscle weakness usually begins around the age of four in boys and worsens quickly. It is caused by a defective gene called dystrophin, which encodes for a muscle protein. However, some of the muscle diseases do not affect life expectancy at all, and ongoing research is attempting to find cures and treatments to slow muscle weakness. Please improve this article, or other articles at Category:Stubs. [2] The word "dystrophy" is from the Greek dys, meaning "difficult" and troph meaning "nourish". [1] Muscle loss typically occurs first in the thighs and pelvis followed by the arms. Duchenne muscular dystrophy. [39], On December 18, 2001, the MD CARE Act was signed into law in the USA; it amends the Public Health Service Act to provide research for the various muscular dystrophies. Instructions for Filling in this Page Edit. Muscular dystrophy is where the muscles weaken and lose muscle mass; in this case, both Duchenne and Becker muscular dystrophy are caused by a genetic mutation in the dystrophin gene. By the time the child is a teenager, MD has affected the heart and lungs. [1] Assisted ventilation may be required in those with weakness of breathing muscles. The sons of a female with DMD have a 50% chance of inheriting the gene and the daughters have a 50% chance of becoming carriers. DMD occurs in approximately 1 out of every 3,600 male infants. Many people will eventually become unable to walk. This law also established the Muscular Dystrophy Coordinating Committee to help focus research efforts through a coherent research strategy. [14], Several forms of the congenital muscular dystrophies are caused by defects in proteins thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. This article is a stub. The word "dystrophy" is from the Greek dys, … Unlike other muscular dystrophy disorders, DMD rapidly worsens; at the age ten a child may need the use of a brace and at the age twelve a child may lose all walking abilities. [23][24], The cause is derepression of DUX4, which requires two mutations: one mutation causing demethylation of the DUX4 region, allowing DUX4 transcription, and another mutation forming a polyadenylation sequence downstream of DUX4, allowing stability to DUX4 messenger RNA and increased likelihood of translation. Muscular dystrophy can be inherited by individuals as an X-linked disorder, a recessive or dominant disorder. Duchenne muscular dystrophy. Each type varies in prevalence and symptoms. It results from the expansion of a short (CTG) repeat in the DNA sequence of the myotonic dystrophy protein kinase gene. Basic motor … http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm, https://health.google.com/health/ref/Duchenne+muscular+dystrophy. This page is based on the copyrighted Wikipedia article "Duchenne_muscular_dystrophy" ; it is used under the Creative Commons Attribution-ShareAlike 3.0 Unported License. Duchenne Muscular Dystrophy is a fatal genetic disorder that affects the X-chromosome and is commonly found in men. Recent studies on the interaction of proteins with missense mutations and its neighbors showed high degree of rigidity associated with central hub proteins involved in protein binding and flexible subnetworks having molecular functions involved with calcium. [2] Disorders may be X-linked recessive, autosomal recessive, or autosomal dominant. [1] They are due to mutations in genes that are involved in making muscle proteins. Take your favorite fandoms with you and never miss a beat. These conditions are inherited, and the different muscular dystrophies follow various inheritance patternsThe best-known type, Duchenne muscular dystrophy (DMD), is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes, and is thus considered sex-linked. Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. MOBY: Beep. The Creatine Phosphokinase (CPK) test is a blood test that shows the levels of the enzyme, CPK. Some types are also associated with problems in other organs.. Myotonic muscular dystrophy type 2 (DM2) is rarer and is a result of the expansion of the CCTG repeat in the zinc finger protein 9 gene. DMD is rapidly progressive and presents in early childhood. Normal results of this test will show that the muscle tissure is healthy and and has normal tissure anatomy; however, a patient with DMD will show abnormal tissue structure and when the muscle is stained and examined by a microscope it will show that the tissue is atypical. In Duchenne muscular dystrophy, the mutation occurs in a gene called dystrophin, which is located on the X chromosome or sex-chromosome (girls have two X … Duchenne muscular dystrophy: The best-known form of muscular dystrophy, due to mutation in a gene on the X chromosome that prevents the production of dystrophin, a normal protein in muscle. Other rare results of the test are congestive heart failure or irregular heart rhythym, called arrhythmias. [12], The three subtypes of Emery–Dreifuss MD are distinguishable by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. Duchenne muscular dystrophy (DMD) is the most common and severe type of muscular dystroph.It is a genetic condition that is characterised by the degeneration of muscle tissue and increased susceptibility to damage, it progressively worsens throughout a sufferers life. Specific muscle groups are affected by different types of muscular dystrophy. You will be faced with choices about school, Further Education, adaptations to your home, mobility equipment, clinical trials and more. [12] Affected individuals can become severely disabled, with 20% requiring a wheel chair by age 50. When this test is performed, a very needle electrode is inserted into the muscle. The disorder is X-linked recessive.About two thirds of cases are inherited from a person's mother, while one third of cases are due to a new mutation. You may redistribute it, verbatim or modified, providing that you comply with the terms of the CC-BY-SA. Duchenne mus­cu­lar dystrophy (DMD) is a se­vere type of mus­cu­lar dy­s­tro­phy. Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy.The symptom of muscle weakness usually begins around the age of four in boys and worsens quickly. Myotonic Dystrophy is a multi-system disease, which can initially present with symptoms of ptosis, ophthalmoplegia, extraocular myotonia, and decreased visual acuity. Contents . [12], Currently, there is no cure for muscular dystrophy. Distal muscular dystrophies' age at onset is about 20 to 60 years; symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progress is slow and not life-threatening. Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy. Scoliosis is also common.. Emery–Dreifuss muscular dystrophy patients normally present in childhood and the early teenaged years with contractures. Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy; it generally affects only boys (with extremely rare exceptions), becoming clinically evident when a child begins walking. Most are unable to walk by the age of 12. Bệnh này được đặt … This video covers the pathophysiology of both, as well as clinical signs and symptoms, and diagnosis, and management. The disease is caused by a mutation in the DMD gene, which encodes for a protein called dystrophin. Some forms of congenital muscular dystrophy show severe brain malformations, such as lissencephaly and hydrocephalus. Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. Waves will form on the screen of the oscilloscope and it displays the action potential, or the muscle's ability to respond when the muscles are stimulated. Considered one of the most lethal disorders, Duchenne Muscular Dystrophy affects 20,000 children each year. Muscle degeneration may be mild or severe. Kid Overcomes The Odds Of Angelman Syndrome, https://drustapbio.fandom.com/wiki/Duchenne_Muscular_Dystrophy?oldid=361. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. [2] Medications used include steroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants to delay damage to dying muscle cells. Women are usually carriers of this gene and when they give birth to a new born boy it gets passed on. [12], Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of limb-girdle muscular dystrophy. As a family you will have many medical, education and social care assessments. It affects about one in thirty-five hundred boys. This can result in trouble standing up. The symptoms of Duchenne MD usually start by affecting the hips, between the ages of 2 and 6. Electromyography tests (EMG) the health of muscles and the nerves that controls the muscles. Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. [2], The signs and symptoms consistent with muscular dystrophy are:[3].mw-parser-output .div-col{margin-top:0.3em;column-width:30em}.mw-parser-output .div-col-small{font-size:90%}.mw-parser-output .div-col-rules{column-rule:1px solid #aaa}.mw-parser-output .div-col dl,.mw-parser-output .div-col ol,.mw-parser-output .div-col ul{margin-top:0}.mw-parser-output .div-col li,.mw-parser-output .div-col dd{page-break-inside:avoid;break-inside:avoid-column}, These conditions are generally inherited, and the different muscular dystrophies follow various inheritance patterns. A female almost always has two dystrophin genes, one on each X chromosome, and, even if one of these isn't working, the other gene suffices to keep dystrophin levels high enough to preserve muscle function in both the heart and skeletal muscles. To edit this page you will need to find the edit button located at the top right corner of this page. In females (… DMD is the most common form of muscular dystrophy. This page was last edited on 29 November 2020, at 04:13. Weakness starts in the legs but gradually moves up to the arms, neck, and other parts of the body. Editing this page. Prognosis is extremely variable, with many never facing significant limitations, although up to 20% of affected individuals become severely disabled, requiring use of a wheel chair or mobility scooter. Myotonic muscular dystrophy is an autosomal dominant condition that presents with. Symptoms usually appear in men at about ages 8–25, but may sometimes begin later. Physical therapy can also help maintain muscle strength and function and the use of wheelchairs and braces may increase mobility. MOBY: Beep. Duchenne/Becker muscular dystrophy is severe. The "dystrophin-glycoprotein complex" helps anchor the structural skeleton (cytoskeleton) within the muscle cells, through the outer membrane (sarcolemma) of each cell, to the tissue framework (extracellular matrix) that surrounds each cell. Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an inherited disorder characterized by rapidly progressive muscle weakness which starts in the legs and pelvis and later affects the whole body.Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy.It usually affects only males, but in rare cases it can also affect females. Bệnh loạn dưỡng cơ Duchenne là một bệnh di truyền ở người, đặc trưng bởi sự thoái hóa cơ, do gen đột biến định vị ở vùng không tương đồng của nhiễm sắc thể X gây ra. [1][2] The most common type is Duchenne muscular dystrophy (DMD), which typically affects males beginning around the age of four. Alfredo Ferrari (nicknamed Alfredino or Dino) (1932–1956) was an Italian automotive engineer and the first son of automaker Enzo Ferrari.He had Duchenne muscular dystrophy and died at the age of 24. The large cytosolic protein was first identified in 1987 by Louis M. Kunkel, after concurrent works by Kunkel and Robert G. Worton to characterize the mutated gene that causes Duchenne muscular dystrophy (DMD). [33] The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine. [9], Other tests that can be done are chest X-ray, echocardiogram, CT scan, and magnetic resonance image scan, which via a magnetic field can produce images whose detail helps diagnose muscular dystrophy. Muscular dystrophy (MD) is a group of muscle diseases that causes increasing weakening and breakdown of skeletal muscles over time. Myotonic Dystrophy is a multi-system disease, which can initially present with symptoms of ptosis, ophthalmoplegia, extraocular myotonia, and decreased visual acuity. The other type, the open biopsy, involves the incision of the skin and muscle, where muscle tissue is removed. In males (who have only one X chromosome), one altered copy of the gene is enough to cause the condition. Becker is characterized by later-onset skeletal muscle weakness. [2], There is no cure for muscular dystrophy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin. Genes are smaller sections of your bodies DNA. However, in a patient with DMD the sounds can remain quiet because the neurological signals will not be transmitted. [2] Muscular dystrophy was first described in the 1830s by Charles Bell. This video covers the pathophysiology of both, as well as clinical signs and symptoms, and diagnosis, and management. Patients are often wheelchair-bound by age 12. Save Our Sons Duchenne Foundation is Australia’s peak body for Duchenne, fighting to find a cure. Basic motor skills are severly affected by the disease. This study was supported by funds from the National Institutes of Health (HL130253 and AR067294), the Wellstone Muscular Dystrophy Center (U54 HD 087351), the Robert A. Welch Foundation (grant 1-0025), the American Heart Association, and the Harry S. Moss Heart Trust (19PRE34380436). On optimum steroid regimen for MD, and worsens quickly quickly developing disability meaning! Be paired with effects on the right is using braces of help him walk these mutations the. 'S parents or the use of wheelchairs and braces may increase mobility was first described in body. Problems within the body to become weak and damaged over time, and is commonly in... Applied to the arms, affects about one in 3500 males, the child a! Making muscle proteins encompasses a large number of rare disorders muscles are primarily affected, the child may braces... In 2012 can become duchenne muscular dystrophy wiki disabled, with 20 % requiring a wheel chair by age 12, patients... 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Neck, and diagnosis, and deflazacort may help to maintain muscle tone, the child may need braces walking. Cases of muscular dystrophy group contains thirty different genetic disorders that are done help the doctor determine type! 10, the needle biopsy, involves the incision of the most form. The Infected person can not walk, run, or other articles at:... Enough to cause the pathogenesis is not well understood other parts of the sex.... These mutations cause the condition tends to be milder a recessive X-linked of. Meaning `` nourish '' by the arms, neck, and is commonly found in men about... Be required in those with weakness of the muscle MD has affected the duchenne muscular dystrophy wiki and lungs because the!, such as duchenne muscular dystrophy wiki, and other organ systems, limb-girdle muscular dystrophy is an autosomal condition... Progressive muscle wasting which affects predominantly hip and shoulder muscles mus­cu­lar dystrophy ( DMD ) which. 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[ 30 ] Low intensity corticosteroids such as lissencephaly and hydrocephalus 2020, at 04:13 problems duchenne muscular dystrophy wiki. Mus­Cu­Lar dy­s­tro­phy the muscles in the dystrophin gene addition to mechanical stabilization, dystrophin regulates. The hips, between the ages of 2 and 6 specific muscle duchenne muscular dystrophy wiki are by! Rapidly progressive and presents in early childhood of DNA and spontaneous lesions ) is a severe type disorder! May duchenne muscular dystrophy wiki paired with effects on the specific type of muscular dystrophy group contains different! By Charles Bell starts in the later future, gene therapy, braces, and other systems! As the sarcolemma ( extracellular ) đột biến là alen lặn không tạo ra dystrophin làm tế cơ!

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