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 specialities involved with the disorder, it deals with both the neurological aspects and also the wide range of systemic 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. Peter Harper, Professor and Consultant in Medical Genetics, Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, Baziel van Engelen, Department of Neurology, University of Nijmegen, The Netherlands, Bruno Eymard, Department of Neurology, Salpetriere Hospital, Paris, France, Douglas Wilcox, Scottish Muscle Centre, University of Glasgow, Glasgow, Scotland Contents SECTION 1 - INTRODUCTION. CLINICAL AND BIOLOGICAL BASIS OF MYOTONIC DYSTROPHY 1 Peter Harper: Myotonic dystrophy - a multi-systemic disorder 2 Tetsua Ashizawa and Darren Monckton: Molecular aspects of myotonic dystrophy. Our current understanding SECTION 2 - NEUROMUSCULAR MANAGEMENT OF MYOTONIC DYSTROPHY 3 Giovanni Meola and David Hilton-Jones: Diagnosis and baseline investigation - a core protocol 4 Bruno Eymard and I Dobon: Missed diagnosis in myotonic dystrophy: frequency, characteristics, consequences, and how to prevent it 5 Mark Rogers and Jean Mathieu: Follow up and assessment protocols 6 Jean Mathieu and Margaret Phillips: Physical disability in myotonic dystrophy SECTION 3 - CHARACTERISATION AND MANAGEMENT OF SYSTEMIC ASPECTS 7 Denis Duboc, Bruno Eymard and Maxwell Damian: Cardiac management of myotonic dystrophy 8 Mark Rogers and Paul Clyburn: Anesthesia and myotonic dystrophy 9 Margaret Phillips: Respiratory problems in myotonic dystrophy and their management 10 Baziel van Engelen and Han Brunner: Gastrointestinal dysfunction in myotonic dystrophy 11 Asa Johannson and Tommy Olsson: Endocrine changes in myotonic dystrophy 12 David Hilton-Jones, Maxwell Damian and Giovanni Meola: Somnolence and its management SECTION 4 - SPECIAL ASPECTS OF MANAGEMENT 13 Sabine Rudnik and Christine de Die-Smulders: Pregnancy and perinatal problems in myotonic dystrophy 14 Christine de Die-Smulders: Congenital and childhood onset myotonic dystrophy 15 Peter Harper and Han Brunner: Genetic counselling and genetic testing in myotonic dystrophy SECTION 5 - INFORMATION AND SUPPORT 16 Douglas Wilcox: Sharing information, knowledge and experience to build a team to help manage myotonic dystrophy 17 Shannon Lord: Support groups for myotonic dystrophy and their role - an American family perspective SECTION 6 - THERAPEUTIC TRIALS AND FUTURE ADVANCES 18 Charles Thornton, Richard Moxley and Robert Griggs: Therapeutic trials and future advances
