Neuromuscular Diseases.pdf

Neuromuscular Diseases

Martin S. Schwartz

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.

Dr. Staff's Translational Neuromuscular Disease Research Lab at Mayo Clinic studies skin biopsies from people with neuromuscular disorders to find a cure.

4.64 MB DATEIGRÖSSE
1447138368 ISBN
Englisch SPRACHE
Neuromuscular Diseases.pdf

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Sofia Voigt

www.ncbi.nlm.nih.gov Moved Permanently. The document has moved here.

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Matteo Müller

Neuromuscular Specialists | Department of … Director of the Neuromuscular Diseases Division Professor of Neurology Adjunct Professor of Rehabilitation Medicine 1959 NE Pacific Street Box 356115 Seattle, WA 98195 Dr. Weiss, Director of the Neuromuscular Diseases Division, is a UW Professor of Neurology and Adjunct Professor in the Department of Rehabilitation Medicine. He sees patients at

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Noel Schulze

Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the

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