Neuromuscular Diseases: A Practical Approach to Diagnosis and Management

ISBN-13: 9781447138365 / Angielski / Miękka / 2013 / 541 str.

Michael Swash; Martin S. Schwartz; Martin S. Schwartz

Opis

Nine years have elapsed since the second edition of this book was published. In this time the principal advances in neuromuscular diseases have been in the application of molecular genetics to understanding the aetiology and pathogenesis of this group of disorders. As a result many previously unrecognised disorders have been charac- terised. Some clinical syndromes, such as the limb girdle dystrophies, have become better defined. In many such instances the new genetic information has led to major advances in knowledge of the biology of cell structures, for example, the membrane structural and channel proteins. The clinical syndromes themselves, and their patho- logical and electrophysiological characteristics, however, remain as important as ever, since they constitute the clinical problem itself and, indeed, the database from which all other concepts emerge. Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. However, this informa- tion does not necessarily always define clinically useful syndromes. Myotonia, for example, is an electrophysiological finding in some syndromes in which it is un- detectable by clinical examination, although the phenomenon itself was originally defined as a clinical entity. The limb girdle muscular dystrophy syndromes can be defined by severity, distribution of weakness, age of onset, sex distribution and other characteristics and many of these can be better understood by study of the under- lying defect in cell structural proteins.

Spis treści

1 Clinical Assessment and Measurement.- 2 Electromyography, Nerve Conduction and Other Neurophysiological Techniques.- 3 Muscle and Nerve Biopsies.- 4 Pathophysiological Correlations and Compensatory Mechanisms.- 5 Classification of Neuromuscular Diseases.- 6 Diseases of Anterior Horn Cells.- 7 A Clinical Approach to the Neuropathies.- 8 Nerve Entrapment and Compression Syndromes and Other Mononeuropathies.- 9 Nerve Root and Plexus Lesions.- 10 Genetically Determined Neuropathies.- 11 Acquired Polyneuropathies.- 12 Myasthenia Gravis and Other Myasthenic Syndromes.- 13 Inflammatory Myopathies and Related Disorders.- 14 Muscular Dystrophies.- 15 Myotonic Syndromes.- 16 Childhood Myopathies.- 17 Inherited Metabolic Myopathies.- 18 Endocrine Myopathies.- 19 Drug-Induced, Toxic and Nutritional Myopathies.- 20 Cardiomyopathy in Neuromuscular Disorders.- 21 Miscellaneous Disorders.- References.