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…mehr
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.
Harper, Peter S. (University of Wales College of Medicine, UK) / Engelen, Baziel van / Eymard, Bruno / Wilcox, Douglas
Inhaltsangabe
* 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 for myotonic dystrophy * 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: Anaesthesia 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
* 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 for myotonic dystrophy * 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: Anaesthesia 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
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