Author: David Cooper
Publisher: Garland Science
ISBN: 0203483677
Category : Medical
Languages : en
Pages : 250
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Book Description
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, affecting 1 in 20,000. The search for the molecular basis of the disease is of interest to all genetic researchers, involving a deletion outside a coding region resulting in over-expression of adjacent genes. This volume summarizes the current understanding of the disorder, including clinical, molecular and therapeutic aspects.
Author: George Karpati
Publisher: Cambridge University Press
ISBN: 9780521650625
Category : Medical
Languages : en
Pages : 800
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Book Description
Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Author: Corrado Angelini
Publisher: Springer
ISBN: 3319564544
Category : Medical
Languages : en
Pages : 433
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Book Description
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.
Author: Dongsheng Duan
Publisher: Springer Science & Business Media
ISBN: 144191207X
Category : Medical
Languages : en
Pages : 281
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Book Description
Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy.
Author: Meena Upadhyaya
Publisher: Taylor & Francis
ISBN: 9781859962442
Category : Medical
Languages : en
Pages : 392
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Book Description
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, affecting 1 in 20,000. The search for the molecular basis of the disease is of interest to all genetic researchers, involving a deletion outside a coding region resulting in over-expression of adjacent genes. This volume summarizes the current understanding of the disorder, including clinical, molecular and therapeutic aspects.
Author: Tulio E. Bertorini
Publisher: Elsevier Health Sciences
ISBN: 0702038695
Category : Medical
Languages : en
Pages : 632
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Book Description
In this unique book, Dr. Bertorini guides you through more than 100 cases that demonstrate the diagnosis and management of a wide range of common and rare neuromuscular disorders. No other reference boasts such a large array of clinical studies devoted to all areas of this broad topic! Each case study reviews the etiologies, pathogenesis, differential diagnosis, and management of a particular disorder, helping you not only recognize its presentation, but also determine a diagnosis and the best treatment plans for your patients. You’ll also find expert guidance on the basic mechanisms of neuromuscular disorders, clinical examination, and diagnostic tests—including EMG, muscle biopsy, genetic testing, and more. More than 100 detailed case studies explore both common and rare neuromuscular disorders and the treatment protocols for each, equipping you with the knowledge you need to confidently manage any challenge. Each case includes a summary of important points or highlights of the study. Case studies are arranged either by complaint or by diagnosis so that you can successfully manage your patients with or without an initial diagnosis. Comprehensive coverage of EMGs and nerve conduction studies and other diagnostic tests, including muscle and nerve biopsies and genetic testing, helps you accurately diagnose nerve, muscle, and neuromuscular transmission disorders. Detailed discussions of treatment plans and commonly used drugs enhance your management of autoimmune disorders, painful neuropathy, dysautonomia, and other neuromuscular disorders. A reader-friendly format takes you step by step through the diagnosis and treatment of neuromuscular disorders, from the basic anatomy and physiology of the nerve and muscle through to clinical evaluation, diagnostic testing, and therapy. More than 350 high-quality illustrations, including full-color patient photographs, biopsies, and EMG tracings, make complex concepts easier to understand and apply.
Author: Aziz Shaibani
Publisher: Oxford University Press
ISBN: 0199393893
Category : Medical
Languages : en
Pages : 304
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Book Description
The first real cases video atlas of neuromuscular disorders that is supplemented with multiple-choice questions, and updates on the illustrated topics. It is easy to search and read. It is perfect for preparation to the neurology and neuromuscular boards and an excellent way to update the experts. By replacing the descriptive text with vivid illustrative videos, the reader will have more time to face the intellectual challenges of these cases instead of trying to build a mental picture of these cases first. Short and well-edited video clips from real clinic stories supplemented with challenging multiple choice questions, provides an excellent way to bridge the gap between overflow of information and short attention span. The chapters are arranged according the symptoms instead of diseases, yet, diseases are listed in the index if one wants to see all videos relevant to a specific disease. Close to 300 video cases* taken directly from a real neuromuscular clinic, illustrating a myriad of disorders and shedding light on their diagnosis, and treatment and giving updates about many of them provides an invaluable approach that should benefit any one who is interested in neuromuscular disorders which comprises more than 50% of presenting disease to general neurologists and even to general practitioners. Some rare diseases are also described, giving an opportunity for the new trainees to see them so that they can diagnosed them if they see them again which may not happen very often. *Due to size limitations, the videos are not included with any eBook version.
Author: Tulio E. Bertorini
Publisher: Elsevier Health Sciences
ISBN: 1437736408
Category : Medical
Languages : en
Pages : 469
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Book Description
Neuromuscular Disorders presents a multi-disciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. Dr. Tulio Bertorini and a contributing team of the world’s leading authorities in the field provide the latest tools and strategies for minimizing disability and maximizing quality of life. Effectively treat your patients using the latest management tools and targeted therapeutic strategies. Manage all neuromuscular disorders as well as resulting complications through comprehensive coverage of diagnosis and evaluations, treatments, and outcomes. Apply the multi-disciplinary approach of an expert in clinical neuromuscular care and a team of world-renown contributors. Easily refer to tools for diagnosis, treatment algorithms, and drug tables included throughout the text.
Author: Kathryn Wagner
Publisher: Jones & Bartlett Publishers
ISBN: 128420166X
Category : Medical
Languages : en
Pages : 288
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Book Description
EMPOWER YOURSELF! According to the National Organization for Rare Disorders (NORD), over 250,000 people are affected by muscular dystrophies (MD) in the United States, including Duchenne muscular dystrophy (DMD), myotonic muscular dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and limb-girdle muscular dystrophy (LGMD) among many others. No one with MD needs to be alone in their fight against this rare disorder. That's where this book and the authoritative information within can help. 100 Questions & Answers About Muscular Dystrophy offers essential and practical guidance. This unique book provides both doctor and patient perspectives and offers answers to the most asked questions by patients and their loved ones. Is it safe to exercise? How do I find a clinical trial in which to participate? What are some things to remember when going to the emergency department? What can I do about fatigue? Along with the answers to these and other questions, this book provides information on diagnosis, treatment, living with MD, new therapeutic options, and more. Written by a leading expert on the topic with more than 20 years experience caring for patients with MD, 100 Questions & Answers About Muscular Dystrophy is an easy-to-read book and must-have resource for those living with MD, as well as their loved ones.
Author:
Publisher: Elsevier
ISBN: 0444640770
Category : Medical
Languages : en
Pages : 480
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Book Description
Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community
