Overview
Provides an overview while also connecting clinical and fundamental research achievements
Introduces the molecular mechanisms within each organ and the resultant clinical features, especially focusing on central nervous system
Addresses the latest topics such as research using patient-derived iPS cells and therapeutic research
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Table of contents (13 chapters)
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Front Matter
Keywords
About this book
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.
Reviews
Editors and Affiliations
About the editors
Masanori P. Takahashi, M.D., Ph.D.
Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Japan
Tsuyoshi Matsumura, M.D., Ph.D.
Department of Neurology, National Hospital Organization Toneyama National Hospital, Japan
Bibliographic Information
Book Title: Myotonic Dystrophy
Book Subtitle: Disease Mechanism, Current Management and Therapeutic Development
Editors: Masanori P. Takahashi, Tsuyoshi Matsumura
DOI: https://doi.org/10.1007/978-981-13-0508-5
Publisher: Springer Singapore
eBook Packages: Medicine, Medicine (R0)
Copyright Information: Springer Nature Singapore Pte Ltd. 2018
Hardcover ISBN: 978-981-13-0507-8Published: 12 November 2018
Softcover ISBN: 978-981-13-4436-7Published: 29 December 2018
eBook ISBN: 978-981-13-0508-5Published: 31 October 2018
Edition Number: 1
Number of Pages: VIII, 214
Number of Illustrations: 16 b/w illustrations, 42 illustrations in colour
Topics: Neurology, Cardiology, Metabolic Diseases, Human Genetics