Author: Janet Hoskin Publisher: Jessica Kingsley Publishers ISBN: 1784504343 Category : Health & Fitness Languages : en Pages : 232
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: Camilla Bernardini Publisher: Humana Press ISBN: 9781493973736 Category : Science Languages : en Pages : 287
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: Alan E. H. Emery Publisher: OUP Oxford ISBN: 0191503665 Category : Medical Languages : en Pages : 320
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: Oxford University Press ISBN: 0199591474 Category : Medical Languages : en Pages : 257
Book Description
Duchenne Muscular Dystrophy is a disease that only affects males, with an incidence of around 1 in 3500 new-born baby boys. Its relentless progress is charterized by loss of the ability to walk by around the age of 10 or 11, leading to a wheelchair life, and dealth from cardiac and respiratory problems usually around the late teens or early twenties. Edward Meryon was the first person to give a full and detailed clinical description of what later research knows as Duchenne Muscular Dystrophy. His research identified many facets of the condition which we now take for granted, for example that it only affects males, that it is an inherited condition carried in female genes, that it is a disease of the muscle system, and its causes. Until recently, Meryon has not been given credit for his contribution to the subject. In this book, the history of Duchenne Muscular Dystrophy is traced in detail, and is interwoven with a commentary of Meryon's research which has led to our current understanding of the disease, will full refences and informative, historically relevant illustrations. This book concludes with a summary of the current position regarding diagnosis, prevention through counselling and prenatal diagnosis, and new encouraging approaches to treatment through molecular genetics.
Author: Jeffrey S. Chamberlain Publisher: CRC Press ISBN: 0849374456 Category : Medical Languages : en Pages : 496
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: Joseph Yasmeh Publisher: ISBN: 9781533110640 Category : Languages : en Pages : 34
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: Basil T. Darras Publisher: Elsevier ISBN: 0124171273 Category : Medical Languages : en Pages : 1160
Book Description
Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry
Author: Dr.S.Daniel Rajasundaram Publisher: Shanlax Publications ISBN: Category : Medical Languages : en Pages : 38
Book Description
This book entitled, “Duchenne Muscular Dystrophy- A Guide”, is a comprehensive and easyguide to parents, other family members and care takers which presents the classification of Muscular Dystrophies. However Duchenne Muscular Dystrophy (DMD) alone is elaborated in detail, as DMD is the predominant Genetic Disorder which is widely observed in our society among various group of people in various geographical areas of the country and even world. This book presents a structured management methods for the care takers, while details the necessary information and guidelines to the parents of the DMD patients regarding, Lungs and Breath Care, Food and Digestive Care, Spinal Cord Care, Heart related Care, Medications and Steroid related Care etc. Symptoms and Stages of DMD are also presented. This book emphasizes the need for providing the comfortable areas for the DMD patient to be explored. A brief overview about the adaptability and movement issues of the patients are listed in a crispy way. This will be helpful to the teachers while the patients are at schools. Meanwhile this will be beneficial to the parents while they bring their wards to some public areas. Finally this guide accentuates the key points to make the society free from Muscular Dystrophy.
Author: Kate Stone Publisher: John Wiley & Sons ISBN: 9780470510407 Category : Medical Languages : en Pages : 272
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: Alan E. H. Emery Publisher: ISBN: Category : Medical Languages : en Pages : 338
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: Janet Hoskin
Author: Camilla Bernardini
Author: Alan E. H. Emery
Author: Alan E. H. Emery
Author: Jeffrey S. Chamberlain
Author: Joseph Yasmeh
Author: Basil T. Darras
Author: Dr.S.Daniel Rajasundaram
Author: Kate Stone
Author: Alan E. H. Emery