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.

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.

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.

Living with myotonic dystrophy is a journey that impacts not only the body but also the mind and spirit. It challenges individuals and their families to adapt to a wide range of physical limitations, chronic pain, and complex emotional landscapes. Yet, the need for psychological resilience in the face of such a condition is often overshadowed by a primary focus on physical symptoms. This book, Psychological Support by Cognitive Behavioral Therapy for Myotonic Dystrophy, is designed to fill that gap by offering practical, evidence-based strategies to foster mental well-being alongside physical health management. Myotonic dystrophy presents a unique set of challenges, affecting not only muscles but also cognitive functions, mood, and social interactions. These challenges may lead to feelings of frustration, depression, anxiety, and social isolation, further complicating the individual’s quality of life. As a progressive genetic disorder, myotonic dystrophy requires a long-term approach to physical and psychological care, which is where Cognitive Behavioral Therapy (CBT) can be particularly impactful. CBT empowers individuals to manage their thoughts, behaviors, and emotions effectively, equipping them with skills to cope with the multifaceted issues posed by this condition. The structure of this book is designed to provide a comprehensive guide, starting with foundational knowledge of myotonic dystrophy and related genetic and hereditary considerations. It offers insights into trauma, epigenetics, and behavioral genetics, helping readers understand the interplay between genetics and behavior. From there, the book delves deeply into various aspects of CBT, providing essential tools and techniques that can be adapted to the unique needs of individuals with myotonic dystrophy. Among the many topics covered, readers will find techniques for managing chronic pain, handling the social and emotional impacts of a genetic illness, and developing resilience in the face of adversity. Practical guidance on pain management addresses common areas affected by neuromuscular disorders, while CBT tools are tailored to meet the specific psychological needs of myotonic dystrophy patients, such as coping with loss of independence, identity struggles, and societal expectations. This book is intended for individuals with myotonic dystrophy, their families, caregivers, and healthcare professionals. It aims to provide not only therapeutic guidance but also a source of hope, offering pathways to foster autonomy, resilience, and self-compassion. My hope is that readers will find comfort in these pages and that the tools within will support them on their journey toward a better quality of life.

The extensively updated 4th Edition of this landmark reference represents one of the most comprehensive, up-to-date sources on neonatal neurology. It expertly synthesizes state-of-the-art knowledge from a variety of disciplines, including clinical medicine, pathology, genetics, physiology, biochemistry, and related fields. Although the primary focus is on clinical evaluation and management, the book also examines the sophisticated technology that has been revolutionizing the field. Organizes disease-focused chapters by the affected body region for easy reference. Offers comprehensive coverage of the diagnosis and treatment of congenital viral infections, teratogenic effects of certain drugs, hyperammonemia, and traumatic disorders. Includes over 1000 illustrations and 9,500 references, many of them new. Reflects the latest insights into molecular genetics and their relevance to clinical practice. Describes the most recent techniques for the evaluation of the newborn. Contains new or extensively updated coverage of neural tube defects and congenital hydrocephalus, hypoxic-ischemic encephalopathy, neurological complications of extra-corporeal membrane oxygenation (ECMO), prevention of intraventricular hemorrhage, bilirubin brain injury, perinatal HIV infection, vein of Galen malformations, and much more.