
The muscular dystrophies are an important group of inherited disorders. They are characterized by muscle wasting and weakness, but vary considerably in their clinical manifestations and severity.This text reviews our understanding of the most important of these disorders. In many instances, the genes and protein products responsible for the dystrophies have been identified and it is now possible to establish a precise diagnosis, detect preclinical cases, identify carriers and offer prenatal dianostic testing. The book goes on to describe the opportunities for management of the symptoms through respiratory care, physiotherapy and surgical correction of contracture, and examines the potential, in the future, for effective treatment utilizing the new techniques of gene and cell therapy.Professor Emery has invited chapters from the leading international experts in the field providing a unique insight into the current situation and the hopes for the future.
This text investigates the clinical manifestations, genetic origins, and management strategies of the various inherited disorders classified as muscular dystrophies. Professor Alan E. H. Emery, a distinguished authority in medical genetics, compiles contributions from international experts to synthesize current diagnostic capabilities and therapeutic outlooks. The work argues that the identification of specific genes and protein products has transformed the clinical approach to these conditions, moving from symptomatic observation to precise molecular diagnosis and proactive management.
What You Will Find
Scope Limits
Experts recognize this volume as a comprehensive reference for clinicians and researchers seeking a structured overview of the field. Readers frequently note the academic density of the prose, which is tailored for medical professionals and students of genetics.
Page Count:
330
Publication Date:
2002-03-15
Publisher:
Oxford University Press
ISBN-10:
0192632914
ISBN-13:
9780192632913
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