Myotonic Dystrophy

Author: Masanori P. Takahashi
Editor: Springer
ISBN: 9811305080
File Size: 19,27 MB
Format: PDF, Kindle
Read: 6441
Download

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.

Myotonic Dystrophy

Author: Peter S. Harper
Editor: Thomas Allen Publishers
ISBN:
File Size: 43,88 MB
Format: PDF, Mobi
Read: 7829
Download

Here is a comprehensive and definitive monograph on myotonic dystrophy. 2nd Edition presents updated coverage of physiological studies, gene mapping, prenatal diagnosis, carrier detection, and molecular genetic aspects of diagnosis. Synthesizes clinical and experimental work. Also covers smooth muscle, cardiorespiratory problems, endocrine abnormalities, peripheral and general nervous involvement, muscle pathology, electrophysiological basis and more. Includes an excellent collection of clinical photographs.

Myotonic Dystrophy

Author: Peter Harper
Editor: OUP Oxford
ISBN: 9780191582783
File Size: 46,98 MB
Format: PDF, Kindle
Read: 6477
Download

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.

Myotonic Dystrophy

Author: Peter S. Harper
Editor: Oxford University Press, USA
ISBN:
File Size: 43,26 MB
Format: PDF, Docs
Read: 8846
Download

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.

Pediatric Neurology Part Iii

Author: Bernard Echenne
Editor: Elsevier Inc. Chapters
ISBN: 0128084103
File Size: 65,81 MB
Format: PDF, ePub
Read: 7113
Download

Myotonic dystrophy (DM) encompasses two gene defects, DM1 (myotonic dystrophy type 1) being currently the sole disorder leading to a childhood form of the disease. As consequence of the non coding unstable CTG repeat expansion mutation, DM1 presents as an extremely wide and diverse clinical continuum ranging from antenatal to late adult forms, the complexity of the disease being reinforced by multisystemic involvement. The congenital form appears as the most severe end of the phenotypic spectrum and may include marked neonatal hypotonia, respiratory failure, facial diplegia, contractures, and mental retardation. Brain involvement is the hallmark of childhood-onset DM1, distinguished by a normal neonatal period, with learning difficulties as the main presenting symptom, resulting from various degrees of mental delay, psychopathological manifestations, speech defects, hypersomnolence, and fatigue. In contrast, muscle weakness remains usually moderate in childhood, limited to facial weakness, ptosis, and dysarthria, until a decline from the second decade. Orthopedic manifestations including kyphoscoliosis and equinovarus may require surgery. Other organs involvement includes frequent abdominal symptoms, whereas endocrine disturbance is rare. Symptomatic cardiac arrhythmia, mainly exercise-induced, can be observed. While current treatment is mainly symptomatic, future clinical trials are expected following significant progress in pathophysiology and the recent development of molecular therapy approaches.

Beyond Borders Myotonic Dystrophies A European Perception

Author: Benedikt Schoser
Editor: Frontiers Media SA
ISBN: 2889457095
File Size: 26,91 MB
Format: PDF, Mobi
Read: 4081
Download

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.

The Mechanisms By Which Cug Repeats Cause Myotonic Dystrophy Type 1

Author: Hongqing Du
Editor:
ISBN:
File Size: 66,25 MB
Format: PDF, ePub, Mobi
Read: 4282
Download


Living With Myotonic Dystrophy

Author: Ann S Woodbury
Editor:
ISBN: 9781619847828
File Size: 31,10 MB
Format: PDF, Mobi
Read: 717
Download

This book is about the Woodbury family's journey with a rare form of muscular dystrophy (DM) - Myotonic Dystrophy. Because this disease affects so many systems in the body and therefore it can look like other diseases, it is hard to diagnose. Four children and my husband have DM. My husband was 43 years old when he was diagnosed, our oldest was 20 and our youngest was 7. Even the doctors didn't know all of the effects of DM. One of the more perplexing effects of the disease are to the brain. Reading this book will take you on our journey of understanding this disease and its effects on my family members.

Muscular Dystrophy

Author: Madhuri Hegde
Editor: IntechOpen
ISBN: 9789535106036
File Size: 39,73 MB
Format: PDF
Read: 7205
Download

With more than 30 different types and subtypes known and many more yet to be classified and characterized, muscular dystrophy is a highly heterogeneous group of inherited neuromuscular disorders. This book provides a comprehensive overview of the various types of muscular dystrophies, genes associated with each subtype, disease diagnosis, management as well as available treatment options. Though each different type and subtype of muscular dystrophy is associated with a different causative gene, the majority of them have overlapping clinical presentations, making molecular diagnosis inevitable for both disease diagnosis as well as patient management. This book discusses the currently available diagnostic approaches that have revolutionized clinical research. Pathophysiology of the different muscular dystrophies, multifaceted functions of the involved genes as well as efforts towards diagnosis and effective patient management, are also discussed. Adding value to the book are the included reports on ongoing studies that show a promise for future therapeutic strategies.

Myotonic Dystrophies

Author: Sandra Jenkins
Editor:
ISBN: 9781634829175
File Size: 11,68 MB
Format: PDF, ePub, Mobi
Read: 5874
Download

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.

Ccug Repeat Toxicity In Myotonic Dystrophy Type 2 Dm2

Author: Jamie Marie Margolis
Editor:
ISBN:
File Size: 73,18 MB
Format: PDF, Docs
Read: 5855
Download


Identification And Analysis Of Rna Binding Proteins Interacting With The Myotonic Dystrophy Protein Kinase 3 Untranslated Region Mrna

Author: Gustavo Tiscornia
Editor:
ISBN:
File Size: 76,65 MB
Format: PDF, Kindle
Read: 1989
Download


The Gale Encyclopedia Of Neurological Disorders

Author: Stacey L. Chamberlin
Editor: Gale Group
ISBN:
File Size: 33,48 MB
Format: PDF, ePub, Mobi
Read: 1714
Download

Contains nearly four hundred alphabetized full-length articles on neurological disorders and drugs and treatments for neurological disorders, and includes further reading lists.

Lowered Sensitivity To Facial Emotions In Myotonic Dystrophy Type 1

Author: Akitoshi Takeda
Editor:
ISBN:
File Size: 25,20 MB
Format: PDF, ePub, Mobi
Read: 1721
Download


Muscular Dystrophies

Author: Robert C. Griggs
Editor: Elsevier
ISBN: 044453489X
File Size: 10,38 MB
Format: PDF, Docs
Read: 7410
Download

The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies. It summarizes the advances in molecular and cell biology, biochemistry, and other biological sciences, with an emphasis on their application to this group of muscle disorders and to their clinical implications. Starting with an overview of muscular dystrophies, the book’s 16 chapters discuss dystrophinopathies; sarcoglycanopathies; congenital muscular dystrophies; collagen VI-related myopathies; limb-girdle muscular dystrophy 2A; dysferlinopathies; limb-girdle muscular dystrophy 2H and the role of TRIM32; and caveolinopathies. The book also covers myofibrillar myopathies; Emery-Dreifuss muscular dystrophy; facioscapulohumeral dystrophy and scapuloperoneal syndromes; oculopharyngeal muscular dystrophy; myotonic dystrophy types 1 and 2; and distal muscular dystrophies. This book is useful to basic investigators, as it offers an increased understanding of muscular dystrophies; and to clinicians, with its emphasis on issues that are relevant to the care, diagnosis, and management of patients with these disorders. Valuable insights into the muscular dystrophies, including treatment, diagnosis, and care and patient management A comprehensive compilation of the combined wisdom of the most highly regarded physicians, experts, and scientists studying the muscular dystrophies An evaluation of the way advances in molecular and cell biology, biochemistry, and other biological sciences continue to advance the study of these disorders

Reversing Myotonic Dystrophy

Author: Health Central
Editor: Raw Power
ISBN: 9781395758523
File Size: 24,57 MB
Format: PDF, ePub, Mobi
Read: 2031
Download

A truly resourceful and supporting workbook which will help you reach your health goals in a short space of time. A Must Have!

Reversing Your Myotonic Dystrophy

Author: Health Central
Editor:
ISBN: 9781703960495
File Size: 19,99 MB
Format: PDF, Docs
Read: 5839
Download

Ask yourself this; did Myotonic Dystrophy exist in the times of our ancestors, centuries ago, or was it born in recent times? Where did it come from? How did we find ourselves diagnosed with it? Has it occurred to you that the foods that you consume on a daily basis directly affect your health? Would you like to know more about the one protocol that has worked for us, time and time again, in increasing our health to a point where "disease" can no longer exist? Through reversing our own chronic diseases and conditions - ranging from severe autoimmune, neurological, digestive - all the way to rare genetic conditions, we noticed a commonality during our healing journeys. We discovered a protocol that supercharged our health and subsequently worked well in the removal of any condition, disease, infection, abnormality, addiction, mental health condition - or any other label that you may come across. Through producing this series of information-assisted journals, our goal has been to reach you directly and share our experiences with you, with the aim of giving you hope. Regardless of what you have been diagnosed/labeled with - if applied correctly, you will experience significant positive changes. This journal has been broken down into two parts - the first part being information-based, and the second part being an assisted journal area for you to document, track and journal your personal daily progress, whilst being given helpful tips along the way. We didn't want to release just another "information overloaded" book which the reader does not benefit from or take action on immediately. Through this interactive and simplified approach found within this series of journals, you will achieve your health goals effectively. Welcome to the world of improved health and healing. Good luck on your journey.

Sleepiness

Author: Michael J. Thorpy
Editor: Cambridge University Press
ISBN: 1139494201
File Size: 63,83 MB
Format: PDF, Docs
Read: 8827
Download

Written and edited by leading clinicians and researchers in sleep medicine, this is the first book to focus on the causes, consequences and treatment of disorders of excessive sleepiness. Extensive coverage is provided for all known causes of sleepiness, including sleep deprivation, obstructive sleep apnea syndrome, narcolepsy and other hypersomnias of central origin, shift work, and medical and psychiatric disorders. Since many causes of sleepiness are difficult to differentiate from each other, and treatment modalities can vary greatly from one disorder to another, this book helps the clinician to formulate a differential diagnosis that will ultimately lead to the correct diagnosis. Epidemiology, evaluation of the sleepy patient, diagnostic investigations including neuroimaging, subjective and objective testing, cognitive effects of sleepiness, motor vehicle driving issues, medico-legal aspects of sleepiness, and therapy are also discussed in detail. This is an essential resource for neurologists, psychiatrists and sleep specialists.

Reversing Myotonic Dystrophy

Author: Health Central
Editor: Raw Power
ISBN: 9781395665944
File Size: 49,29 MB
Format: PDF, ePub
Read: 7993
Download

A truly resourceful and supporting workbook which will help you reach your health goals in a short space of time. A Must Have!

Handbook Of Nurse Anesthesia

Author: John J. Nagelhout
Editor: Elsevier Health Sciences
ISBN: 1416050248
File Size: 10,41 MB
Format: PDF, Mobi
Read: 2100
Download

A practical reference for the clinical setting, Handbook of Anesthesia, 5th Edition puts key information at your fingertips. It's an ideal companion to Nurse Anesthesia, providing easy-access coverage of the subjects you look up most frequently, such as common diseases, common procedures, drugs, and protocols. It also includes the most current information related to perioperative management and anesthetic care considerations for a wide variety of surgical procedures. Written by leading CRNA experts John Nagelhout and Karen Plaus, this compact handbook provides the up-to-date clinical and drug information you'll use in daily practice "This book is packed with information, is easy to read and easy to navigate. The clinical information is authentic, and reads like the work of authors with clinical experience and wisdom" Reviewed by: British Journal of Anaesthesia Date: Nov 2014 Convenient, quick-reference format is organized into three parts: common diseases, common procedures, and drugs. Disease monographs include definition, incidence and prevalence, pathophysiology, laboratory results, clinical manifestations, treatment, anesthetic considerations, and prognosis. Monographs of surgical procedures include a brief description, preoperative assessments (including health history, physical assessment, and patient preparation), anesthetic technique, perioperative management, and postoperative implications. Drug monographs include generic names, trade names, indications, anesthetic considerations, pharmacokinetics, dosages, and adverse effects. Expert CRNA authors provide the current clinical information you'll use in daily practice. UPDATED disease information includes the latest treatment and anesthetic considerations. NEW drug information includes interactions and effects of key new drugs with common anesthetic agents. NEW surgical procedures include up-to-date information on new minimally invasive and laparoscopic procedures. NEW appendices include drug, laboratory, and pediatric tables for easy reference.