© 2018

Myotonic Dystrophy

Disease Mechanism, Current Management and Therapeutic Development

  • Masanori P. Takahashi
  • Tsuyoshi Matsumura

Table of contents

  1. Front Matter
    Pages i-viii
  2. Tohru Matsuura
    Pages 1-18
  3. Hideki Itoh, Takuhisa Tamura
    Pages 63-76
  4. Haruo Fujino, Shugo Suwazono, Yuhei Takado
    Pages 77-94
  5. Yasushi Iwasaki
    Pages 95-113
  6. Satoshi Kuru
    Pages 133-147
  7. Hiromi Iwahashi
    Pages 149-159
  8. Hiroto Takada
    Pages 161-170
  9. Sonoko Nozaki
    Pages 171-187
  10. Toshiyuki Araki, Masayoshi Kamon, Hidetoshi Sakurai
    Pages 189-201
  11. Masayuki Nakamori
    Pages 203-214

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.


Myotonic dystrophy DM RNA disease Muscle weakness DMPK CNBP Hereditary disease

Editors and affiliations

  • Masanori P. Takahashi
    • 1
  • Tsuyoshi Matsumura
    • 2
  1. 1.Department of Functional Diagnostic ScienceOsaka University Graduate School of MedicineOsakaJapan
  2. 2.Department of NeurologyNational Hospital Organization Toneyama National HospitalOsakaJapan

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
  • Copyright Information Springer Nature Singapore Pte Ltd. 2018
  • Publisher Name Springer, Singapore
  • eBook Packages Medicine Medicine (R0)
  • Hardcover ISBN 978-981-13-0507-8
  • Softcover ISBN 978-981-13-4436-7
  • eBook ISBN 978-981-13-0508-5
  • Edition Number 1
  • Number of Pages VIII, 214
  • Number of Illustrations 16 b/w illustrations, 42 illustrations in colour
  • Topics Neurology
    Metabolic Diseases
    Human Genetics
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals
Consumer Packaged Goods


“This book is suitable for neuromuscular medicine subspecialists, healthcare providers involved in the care of myotonic dystrophy patients, and clinical basic science researchers. The book meets the needs of this audience. … This book stands out as an excellent reference on myotonic dystrophy.” (Eduardo De Sousa, Doody's Book Reviews, June 28, 2019)