
Duchenne Muscular Dystrophy, An Inherited And Progressive Muscle Wasting Disease, Is One Of The Most Common Single Gene Disorders Found In The Developed World. In This Fourth Edition Of The Classic Monograph On The Topic, Alan Emery And Francesco Muntoni Are Joined By Rosaline Quinlivan, Consultant In Neuromuscular Disorders, To Provide A Thorough Update On All Aspects Of The Disorder. Recent Understanding Of The Nature Of The Genetic Defect Responsible For Duchenne Muscular Dystrophy And Isolation Of The Protein Dystrophin Has Led To The Development Of New Theories For The Disease's Pathogenesis. This New Edition Incorporates These Advances From The Field Of Molecular Biology, And Describes The Resultant Opportunities For Screening, Prenatal Diagnosis, Genetic Counselling And From Recent Pioneering Work With Anti-sense Oligonucleotides, The Possibility Of Effective Rna Therapy. Although There Is Still No Cure For The Disorder, There Have Been Significant Developments Concerning The Gene Basis, Publication Of Standards Of Care Guidelines, And Improvements In Management Leading To Significantly Longer Survival, Particularly With Cardio-pulmonary Care. The Authors Also Investigate Other Forms Of Pharmacological, Cellular And Gene Therapies. Duchenne Muscular Dystrophy Will Be Essential Reading Not Only For Scientists And Clinicians, But Will Also Appeal To Therapists And Other Professionals Involved In The Care Of Patients With Muscular Dystrophy.
This monograph investigates the clinical, genetic, and molecular foundations of Duchenne Muscular Dystrophy to provide a comprehensive framework for diagnosis and management. The authors, including specialists in neuromuscular disorders, synthesize decades of research to explain the pathogenesis of the disease following the identification of the dystrophin protein. They evaluate the current state of genetic screening, prenatal diagnosis, and emerging therapeutic interventions, including RNA therapy and pharmacological approaches.
What You Will Find
Scope Limits
Experts recognize this work as a foundational reference for clinicians, researchers, and therapists managing neuromuscular conditions. Readers frequently note the high level of technical detail and the thorough integration of recent molecular advancements in the field.
Page Count:
320
Publication Date:
2015-01-01
Publisher:
Oup Oxford
ISBN-10:
0191503657
ISBN-13:
9780191503658
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