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Myotonic Dystrophy

Myotonic Dystrophy

Present management, future therapy

9780198527824
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Description
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 andalso the current state of research into understanding the underlying mechanisms.
Product Details
OUP Oxford
85040
9780198527824
9780198527824

Data sheet

Publication date
2004
Issue number
1
Cover
hard cover
Pages count
264
Dimensions (mm)
161 x 241
Weight (g)
536
  • Section 1 - Introduction: Clinical and biological basis of myotonic dystrophy; Myotonic dystrophy: a multi-systemic disorder; Molecular aspects of myotonic dystrophy: our current understanding; Section 2 - Neuromuscular management of myotonic dystrophy; Diagnosis and baseline investigation: a core protocol; Missed diagnosis in myotonic dystrophy: frequency, characteristics, consequences, and how to prevent it; Follow up and assessment protocols for myotonic dystrophy; Physical disability in myotonic dystrophy; Section 3 - Characterisation and management of systemic aspects; Cardiac management of myotonic dystrophy; Anaesthesia and myotonic dystrophy; Respiratory problems in myotonic dystrophy and their management; Gastrointestinal dysfunction in myotonic dystrophy; Endocrine changes in myotonic dystrophy; Somnolence and its management; Section 4 - Special aspects of management; Pregnancy and perinatal problems in myotonic dystrophy; Congenital and childhood-onset myotonic dystrophy; Genetic counselling and genetic testing in myotonic dystrophy; Section 5 - Information and support; Sharing information, knowledge and experience to build a team to help manage myotonic dystrophy; Support groups for myotonic dystrophy and their role: an American family perspective; Section 6 - Therapeutic trials and future advances; Therapeutic trials and future advances;
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