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.

It is now almost a decade since the identification of the Huntington's Disease gene and its mutation, during which time, major advances in our understanding of this disorder have been achieved. Since publication of the first two editions of this book, there have been considerable insights into how the mutation leads to the molecular pathology, neuropathology and clinical symptoms of Huntington's Disease, and experimental tools are now in place to take this research further towards new therapeutic approaches. As a result of these major advances, this well-established series of books has required radical updating. An international group of researchers and clinicians with specialist interests in HD has been commissioned to document the recent advances in our understanding of this disease. Developments in the fields of structural biology, cell biology, neurochemistry and neuropathology, with full coverage of transgenic animal models, are discussed in detail. The clinical sections cover genetic, neurological and psychiatric aspects as well as new developments in therapy. This book will continue to provide an invaluable source of information for clinicians and scientists involved with Huntington's Disease, including geneticists, psychiatrists and neurologists, and basic science research workers in genetics and neurobiology.

This informative new book presents an accessible account of the development of medical genetics over the past 70 years, one of the most important areas of 20th, and now 21st, century science and medicine. Based largely on the author's personal involvement and career as a leader in the field over the last half century, both in the UK and internationally, it draws on his interest and involvement in documenting the history of medical genetics. Underpinning the content is a unique series of 100 recorded interviews undertaken by the author with key older workers in the field, the majority British, providing invaluable information going back to the very beginnings of human and medical genetics. Focusing principally on medically relevant areas of genetics rather than the underlying basic science and technological aspects, the book offers a fascinating insight for those working and training in the field of clinical or laboratory aspects of medical genetics, genomics and allied areas; it will also be of interest to historians of science and medicine and to workers in the social sciences who are increasingly attracted by the social and ethical challenges posed by modern medical genetics and genomics.

This informative new book presents an accessible account of the development of medical genetics over the past 70 years, one of the most important areas of 20th, and now 21st, century science and medicine. Based largely on the author's personal involvement and career as a leader in the field over the last half century, both in the UK and internationally, it draws on his interest and involvement in documenting the history of medical genetics. Underpinning the content is a unique series of 100 recorded interviews undertaken by the author with key older workers in the field, the majority British, providing invaluable information going back to the very beginnings of human and medical genetics. Focusing principally on medically relevant areas of genetics rather than the underlying basic science and technological aspects, the book offers a fascinating insight for those working and training in the field of clinical or laboratory aspects of medical genetics, genomics and allied areas; it will also be of interest to historians of science and medicine and to workers in the social sciences who are increasingly attracted by the social and ethical challenges posed by modern medical genetics and genomics.

The role of a genetic counsellor is to mediate between the rapid advances in molecular medicine and an individual??'s ability to understand and manage the risks of their inheritance. Counsellors therefore need to be fully in command of the psychological impact of their communications. Written by a psychiatrist who later became a psychotherapist, this manual is essential reading for counsellors of all disciplines. It examines the psychological processes and explains why people approach and respond differently. Effective genetic counselling requires a knowledge of attachment behaviour and non-directiveness, and an in-depth understanding of empathy in order to help individuals contain anxiety and process grief and so facilitate their decision-making or help with the effects of reviewing a test result. Along with an up-to-date discussion of similar approaches in family therapy and psychoanalysis, the effect of counselling on the counsellor is also examined creatively in order to enrich the interview with clients.

This comprehensive guide provides overviews of the key psychological processes affecting mental health, such as development, attachment, emotion regulation and attention, and draws out the implications for preventive measures and promotion of emotional well-being. The authors, from a range of professional disciplines, emphasise the importance of early intervention and prevention, exploring in particular how initiatives in parenting and education can promote children's emotional well-being. The topics they cover include: * the prevention and management of addiction and eating disorders * the development of culturally sensitive services for ethnic minority children and families * the impact of parenting programmes and the life skills education programmes in schools * ways of meeting the mental health needs of children who are socially excluded, homeless or in local authority care. Providing examples of a broad range of projects and initiatives in Britain and other European countries, this handbook will be an invaluable resource for all professionals working in child and adolescent mental health.

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 worlwide research.
New to this edition are "Key Facts" at the beginning of each chapter, "Frequently Asked Questions" boxes, and up-to-date contact details for worldwide myotonic dystrophy support groups.

Myotone Dystrophie - die Fakten richten sich in erster Linie an die Patienten und ihre Angeh rigen. Deren Fragen sind dem Autor aus der jahrzehntelangen klinischen Praxis vertraut. Mit viel Einf hlungsverm gen werden sie aufgegriffen und bearbeitet. Im Vordergrund steht dabei das Anliegen, den Lesern so viel Wissen und Kompetenz zu vermitteln, dass sie erkrankungsbedingte Risiken im Alltag einsch tzen und durch entsprechendes Verhalten minimieren k nnen.Einleitend wird erkl rt, worum es sich bei der Myotonen Dystrophie handelt. Anschlie end geht der Autor auf Themen wie: Leben mit der neuromuskul ren Erkrankung, Familie und genetisches Risiko oder Fortschritte in Forschung und Behandlung ein. Ein eigenes Kapitel ist den Besonderheiten der Myotonen Dystrophie bei Kindern gewidmet.Auch wenn es nach wie vor keine Heilung gibt f r die Myotone Dystrophie, wird deutlich: die Diagnose Myotone Dystrophie bedeutet nicht per se Leiden und Verlust von Lebensqualit t. Die Betroffenen haben durch ihren Umgang mit der Krankheit vieles selbst in der Hand.