Download or read book Myotonic Dystrophy written by Peter S. Harper and published by Bailliere Tindall Limited. This book was released on 2001 with total page 456 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic Dystrophy is one of the most variable of all human disorders. With age onset ranging from fetal life to old age, and with virtually all systems of the body affected in some way, it can present clinically to many types of specialist; not only the neurologist but also the cardiologist, ophthalmologists, gastroenterologist or endocrinologist.
Download or read book Myotonic Dystrophy written by Peter Harper and published by OUP Oxford. This book was released on 2009-06-17 with total page 120 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on individuals who are diagnosed with the disease and their families. It is present for many decades of a patient's life but, unlike the other dystrophies, it also affects the organs in the body, making this a very distinctive disorder, and a very troubling one for those close to it. When the first edition of Myotonic Dystropy: The Facts published in 2002, it was widely appreciated by families, support groups, professionals and reviewers for its simple and clear approach to key practical questions. This new edition retains the same successful structure, but now includes new material on the recognition of the distinct 'type 2 myotonic dystrophy', which had only just been identified at the time of the first edition. Further explanation of the advances in basic understanding of myotonic dystrophy, and additional coverage of the new approaches to therapy and management of the condition are also included, as well as comprehensive discussion of the recent on-going worldwide research. New to this edition are 'Key Facts' at the beginning of each chapter, 'frequently asked question' boxes, and up-to-date contact details for worldwide myotonic dystrophy support groups.
Download or read book Myotonic Dystrophy written by Masanori P. Takahashi and published by Springer. This book was released on 2018-10-31 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an essential overview combining both clinical and fundamental research advances in myotonic dystrophy. The pathomechanism of myotonic dystrophy has long been unclear, but in the past decade, our understanding has shifted to a novel disease mechanism concept: “RNA disease”. Parallel to these advances in elucidating the pathophysiology, translational research is also progressing rapidly. The current challenge lies in assessing the effectiveness of treatment, and as such, there is a growing interest in observational studies of the disease’s various clinical symptoms. The book introduces readers to the molecular mechanisms within each organ and the resultant clinical features, which are presented together. In particular, it focuses on the central nervous system, since the pathology of the brain (central nervous system manifestation) has rarely been addressed systematically and will pose a persistent challenge, even if therapies have greatly advanced in the future. In addition, the book addresses the latest developments, such as research using patient-derived iPS cells and therapeutic research. Myotonic Dystrophy provides essential information for neurologists and researchers with an interest in muscle disease, including muscular dystrophy. Furthermore, since the disease involves various complications of the brain, heart, metabolism, etc., the book will be of great value to clinicians and researchers in the cardiovascular sciences, endocrinology, diabetes, dementia, and neuropsychology, as well as genetic specialists.
Download or read book Neurodegenerative Diseases written by Shamim I. Ahmad and published by Springer Science & Business Media. This book was released on 2012-03-12 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: The editor of this volume, having research interests in the field of ROS production and the damage to cellular systems, has identified a number of enzymes showing ·OH scavenging activities details of which are anticipated to be published in the near future as confirmatory experiments are awaited. It is hoped that the information presented in this book on NDs will stimulate both expert and novice researchers in the field with excellent overviews of the current status of research and pointers to future research goals. Clinicians, nurses as well as families and caregivers should also benefit from the material presented in handling and treating their specialised cases. Also the insights gained should be valuable for further understanding of the diseases at molecular levels and should lead to development of new biomarkers, novel diagnostic tools and more effective therapeutic drugs to treat the clinical problems raised by these devastating diseases.
Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Download or read book Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities written by Fabrizio Barbetti and published by . This book was released on 2017 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume, written by renowned experts, provides complete coverage of the main genetic conditions associated with diabetes. Divided into five sections, it offers insights into genetic defects involving the pancreatic beta cell, extreme insulin resistance, ciliopathies, obesity and glucose metabolism, chromosomal defects, and other genetic conditions associated with increased susceptibility to diabetes. Other topics include the various subtypes of monogenic diabetes, such as the neonatal form and the Wolfram syndrome, as well as chromosomal defects leading to complex conditions affiliated with diabetes, like Trisomy 21 or Prader-Willi syndrome. There are also chapters dedicated to the poorly explored relationships between metabolism and neurodegenerative disorders like Friedreich's ataxia and muscular dystrophy. This book is a reference for every pediatric and adult endocrinologist and diabetologist, even experienced ones, with an interest in the intricacies and protean aspects of disorders of glucose metabolism secondary to genetic diseases.
Download or read book Neuromuscular Disorders in Clinical Practice written by Bashar Katirji and published by Springer Science & Business Media. This book was released on 2013-10-11 with total page 1565 pages. Available in PDF, EPUB and Kindle. Book excerpt: Comprehensive, thoroughly updated, and expanded, Neuromuscular Disorders in Clinical Practice, Second Edition encompasses all disorders of the peripheral nervous system, covering all aspects of neuromuscular diseases from diagnosis to treatment. Mirroring the first book, this two-volume edition is divided into two parts. Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes. Neuromuscular Disorders in Clinical Practice, Second Edition is intended to serve as a comprehensive text for both novice and experienced practitioners. General neurologists as well as specialists in neuromuscular medicine and trainees in neuromuscular medicine, clinical neurophysiology and electromyography should find this book inclusive, comprehensive, practical and highly clinically focused. Additionally, specialists in physical medicine and rehabilitation, rheumatology, neurosurgery, and orthopedics will find the book of great value in their practice.
Download or read book Sleep Disorders in Neurology written by Sebastiaan Overeem and published by John Wiley & Sons. This book was released on 2010-03-26 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: Formulate treatment plans with confidence when you consult SleepDisorders in Neurology, a helpful overview of both common andrare neurological disorders that are frequently accompanied bysignificant sleep disturbances. This concise guide explains when toconsult a sleep specialist in managing a particular sleep disorderand draws on the expertise of neurologists who specialize in thedisorders under discussion. This practical guide is fullyillustrated and easily digested, providing a counterpoint to largeencyclopedic reference volumes. The authors take you from historytaking and diagnostic testing, to pharmacological andnon-pharmacological treatment options, and are joined by diseasesub-specialists in the chapters on disease specific sleepdisturbances and the effects of common neurological medications onsleep. This book is essential for sleep medicine specialists, as wellas for clinicians and health care professionals not specificallytrained in sleep medicine, but who nevertheless need to manageneurologically damaged patients with increasingly recognizedsleep-wake disturbances.
Download or read book Beyond Borders Myotonic Dystrophies A European Perception written by Benedikt Schoser and published by Frontiers Media SA. This book was released on 2019-01-21 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic dystrophies (DMs) are pleotropic multisystemic diseases. These dominantly transmitted repeat disorders affect multiple organs of the human body at all ages – from the newborns to the elderly. The present Research Topic represents a timely addition to the expanding body of evidence which aims to provide novel perspectives in our understanding of myotonic dystrophies. This collection of original contributions and standpoint reviews from multiple leading DM centres in Europe describes the state of the art for the characterization of the DMs diseases, the development of molecular strategies to target its multisystemic nature, and provides evidence of screening and testing novel therapeutic avenues.
Download or read book Myotonic Dystrophy written by Peter S. Harper and published by . This book was released on 2002 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on indviduals who are diagnosed with the disease and their families. It is present for many depths of a patient's life and has many attendant implications. Associated problems with other organs of the body, for example, which does not occur in the other dystrophies, making this very distinctive disorder, and very troubling one for those close to it. This book covers a wide range of aspects of the disease, and explains in simple terms exactly what the condition is, what the symptoms are and how they can or might develop. Also discussed is how to present them, or spot them early enough to treat them, and so limit any potential debilitation. Routes for further study are gone into, as it is not claimed that the book is exhaustive, it does not, for example, cover the very rarest manifestations of the illness. Self education is encouraged and this book gives anyone interested the tools with which to find out more and empower themselves by taking an active role in their own treatment. Most importantly, it carries the message that there is hope, something can be done, even if there is, as yet, no actual cure. Any patient who has left a diagnostic consultation with the impression that there is nothing to be done will find this a great source of hope and strength. There are few clinicians more experienced in this field than Peter Harper who has studied and written extensively on the subject.
Download or read book Genetic Instabilities and Neurological Diseases written by Robert D. Wells and published by Elsevier. This book was released on 2011-10-13 with total page 783 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. Contributions by most of the principal research teams in the area, edited by world-renowned leaders Lays the background for future investigations on related diseases
Download or read book Myotonic Dystrophy written by Peter S. Harper and published by . This book was released on 2004 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a full and practical account of management of myotonic dystrophy, the commonest muscular dystrophy of adult life and a condition of exceptional variability. Written for neurologists, clinical geneticists and other clinical geneticists and other clinical specialties involved with the disorder, it deals with both the neurological aspects and also the wide range of systematic complications that may occur. In addition it provides details of information and support available to patients and families and gives a summary of the present state of clinical trials of therapeutic agents. These sections are preceded by general introductory chapters describing both the clinical features and also the current state of research into understanding the underlying mechanisms.
Download or read book Genetic Neuromuscular Disorders written by Corrado Angelini and published by Springer. This book was released on 2017-10-05 with total page 433 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Download or read book Myotonic Dystrophies written by Sandra Jenkins and published by Nova Science Publishers. This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic dystrophy is a multisystemic disorder. The epidemiology of DM is examined in the first chapter of this book as well as potential therapeutic strategies. The authors then go on to review the various involvement of the endocrine system in myotonic dystrophy and therapeutic strategies are proposed. The fourth chapter gives an overview on the diagnostic assessment and management of distinct clinical manifestations of CNS (Central Nervous System) involvement in DM patients, and the main topics regarding its pathogenesis are explored. The next chapter focuses on the strategy of neuromuscular blockage for patients with myotonic dystrophy, especially focusing on premedication, induction of anaesthesia, response to muscle relaxants, the crucial points of safe anaesthesiological care and other perioperative triggers. The development of biomarkers is of high importance in the diagnosis and monitoring of diseases and thus is examined with relation to DM1 (myotonic dystrophy type 1) patients. Other chapters summarize the different rehabilitative approaches that have been proposed in this disease; the novel, interesting findings of therapeutic potential to target DM1 with small molecule kinase inhibitors and the promises his may provide to this devastating disorder; the controversial, phenotypical consequences of the interrupted alleles on DM1 patients; and the sleep disorders associated with myotonic dystrophies.
Download or read book Encyclopedia of Sleep written by and published by Academic Press. This book was released on 2013-01-17 with total page 2626 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a world of 24-hour media saturation, sleep has become an increasingly fraught enterprise. The award-winning four-volume Encyclopedia of Sleep, Four Volume Set is the largest reference, either online or in print, on the subject of sleep. Written to be useful for the novice and the established researcher and clinician, Topic areas will include sleep across the life cycle and in other species, sleep and women, sleep and the elderly, pediatric sleep, sleep deprivation and loss, sleep mechanisms, sleep physiology and pathophysiology, sleep disorders, neurobiology, chronobiology, pharmacology, and impact of other disorders on sleep. Recognizing the many fields that are connected to sleep science, the editorial team has been carefully chosen to do justice to this highly interdisciplinary field of study. The steady growth of researchers and clinicians in the sleep field attests to the continued interest in the scientific study of sleep and the management of patients with sleep disorders, and anyone involved in this exciting field should find this work to be an invaluable reference. 2013 PROSE Award winner for Multivolume Reference in Science from the Association of American Publishers Thoroughly interdisciplinary: looks at sleep throughout the life cycle, with exceptional coverage of basic sleep concepts, the physiology of sleep as well as sleep disorders of all descriptions Excellent coverage of sleep and special populations, covering the lifespan, as well as gender and ethnic differences, among others Chapters focusing on sleep disorders are grouped under the broad categories classified in the ICSD-2 for clear organization so that the reader can effectively access the steps involved in diagnosing and treating these disorders Online version is linked both within the encyclopedia (to related content) and to external sources (such as primary journal content) so that users have easy access to more detailed information if needed
Download or read book Muscular Dystrophy written by Raymond A. Huml and published by Springer. This book was released on 2015-07-16 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical and concise guide offers an overview of muscular dystrophy's complicated features, treatment options and general resources. New treatments and a greater understanding of proteins and structures associated with MD are discussed along with long term patient care. Also included are clinical and developmental challenges within the current regulatory landscape and recent scientific and clinical advances. Muscular Dystrophy offers clinicians, researchers, pharmaceutical executives and patient advocacy groups an easy-to-read reference that provides the necessary perspectives of the care giver and patient.
Download or read book Neuromuscular Disorders written by Satish V. Khadilkar and published by Springer. This book was released on 2017-12-28 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise overview of the diagnosis and therapy of a wide variety of neuromuscular disorders, in tabulated form and with illustrative cases. Treating neuromuscular disorders calls for a sound, step-by-step clinical approach based on differential diagnosis and laboratory investigations. Yet to date, there has been no single, compact book that offers all the relevant information related to the management of these disorders. This book fills that gap, presenting the state of the art in the field and addressing practical problems together with their solutions. Each chapter covers disorder characteristics, clinical differentiating points, relevant investigations and their interpretation, available genetic testing, best management approaches and counselling. Illustrative cases provide valuable insights, while extensive tables and illustrations mean that information can be rapidly found.
