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Author: Alan E. H. Emery
Publisher: OUP Oxford
ISBN: 0191503665
Category : Medical
Languages : en
Pages : 300
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Book Description
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.
Author: Alan E. H. Emery
Publisher: OUP Oxford
ISBN: 0191503665
Category : Medical
Languages : en
Pages : 300
Get Book Here
Book Description
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.
Author: Camilla Bernardini
Publisher: Humana Press
ISBN: 9781493973736
Category : Science
Languages : en
Pages : 287
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Book Description
This volume explores experimental approaches used to study Duchenne muscular dystrophy (DMD), an X-linked degenerative skeletal muscle disease caused by mutations in the dystrophin gene. Including the latest progress and scientific achievements, the book covers recent discoveries achieved through in vivo gene editing which have proven to be promising in restoring dystrophin expression, at least in ameliorating skeletal muscle symptoms, and the contents focus on “Omics” techniques in gene expression, protein expression, miRNAs, and long non-coding RNA analysis, as well as experimental studies of the structural/functional changes affecting the skeletal and cardiac muscles and ongoing preclinical studies and clinical trials. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Duchenne Muscular Dystrophy: Methods and Protocols serves as a guide for researchers exploring the complicated nature of dystrophin in the hope of helping the victims of this disorder.
Author: Janet Hoskin
Publisher: Jessica Kingsley Publishers
ISBN: 1784504343
Category : Health & Fitness
Languages : en
Pages : 234
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Book Description
The prognosis for individuals with Duchenne Muscular Dystrophy (DMD) is improving, with some men with DMD living into their 30s and 40s. More vital than ever, this book helps teachers and parents to support children and young people with DMD with their education and transition into adulthood. Leading experts on DMD explain Duchenne and its impact in easy-to-understand terms. Going beyond physical management, particular focus is put on learning and behavioural issues, including speech delay and difficulty learning to read, as well as common comorbid conditions, such as ADHD, autism and OCD. Raising aspirations, the book gives guidance on effective support in the classroom and advice on the transition to adulthood, employment and independent living.
Author: Joseph Yasmeh
Publisher:
ISBN: 9781533110640
Category :
Languages : en
Pages : 34
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Book Description
Dan's an up-beat boy who loves to have a blast. And like many young boys, he was born with Duchenne muscular dystrophy. This is his story.
Author: Jeffrey S. Chamberlain
Publisher: CRC Press
ISBN: 0849374456
Category : Medical
Languages : en
Pages : 491
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Book Description
Duchenne Muscular Dystrophy (DMD) is one of the most prevalent genetic disorders of childhood and currently stands as an incurable condition. This authoritative guide provides a clear overview of the latest current and experimental approaches to the treatment of DMD and examines the clinical, genetic, and pathophysiological aspects of the disease i
Author: Kate Stone
Publisher: John Wiley & Sons
ISBN: 9780470510407
Category : Medical
Languages : en
Pages : 272
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Book Description
This is a practical guide for Occupational Therapists and others who provide services to people who have Duchenne muscular dystrophy. The goal of the book is to deepen the readers understanding of the support that occupational therapists can offer to families who are affected by this condition. Written by experienced occupational therapists with a special interest in Duchenne muscular dystrophy. The book will provide information and support to therapists who may be working in isolation, or who rarely work with this client group. It is for the experienced therapist as well as the student. Each chapter of this book gives a clear and comprehensive description of different aspects of occupational therapy assessments and interventions.
Author: Samuel Alexandre Almeida Honorio
Publisher:
ISBN: 9781634821537
Category :
Languages : en
Pages : 200
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Book Description
A child with Duchenne Muscular Dystrophy (DMD) faces a childhood and adolescence with a disability that develops gradually. This book intends to expose the problems of children with DMD. The authors discuss situations related to the disease in an attempt to provide some quality and improvement of life for those affected since DMD is a degenerative disease which affects muscle. This book offers a historical study of muscular dystrophy. It also shows some profiles of excellent clinicians and scientists that have contributed to this book with a description of muscular dystrophy from the clinical picture, to the latest techniques in genetics. Also included in the chapters are resolutions of several approaches to DMD, like scales, in order to anticipate how to manage the disease. This book relates some techniques of moderate exercise, like Yoga and water exercises, that are compliable with some advantages in mobility. The book concludes with some current trends and what can be done in the future. This book can be a good read to everyone that is interested in DMD, and also for the ones who know or provide care for those with this terrible disease.
Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781730631
Category : Medical
Languages : en
Pages : 982
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Book Description
NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author: Alan E. H. Emery
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 338
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Book Description
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.
Author: Raymond A. Huml
Publisher: Springer
ISBN: 3319173626
Category : Medical
Languages : en
Pages : 206
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Book Description
This practical and concise guide offers an overview of muscular dystrophy's complicated features, treatment options and general resources. New treatments and a greater understanding of proteins and structures associated with MD are discussed along with long term patient care. Also included are clinical and developmental challenges within the current regulatory landscape and recent scientific and clinical advances. Muscular Dystrophy offers clinicians, researchers, pharmaceutical executives and patient advocacy groups an easy-to-read reference that provides the necessary perspectives of the care giver and patient.
