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.
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
EMPOWER YOURSELF! According to the National Organization for Rare Disorders (NORD), over 250,000 people are affected by muscular dystrophies (MD) in the United States, including Duchenne muscular dystrophy (DMD), myotonic muscular dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and limb-girdle muscular dystrophy (LGMD) among many others. No one with MD needs to be alone in their fight against this rare disorder. That's where this book and the authoritative information within can help. 100 Questions & Answers About Muscular Dystrophy offers essential and practical guidance. This unique book provides both doctor and patient perspectives and offers answers to the most asked questions by patients and their loved ones. Is it safe to exercise? How do I find a clinical trial in which to participate? What are some things to remember when going to the emergency department? What can I do about fatigue? Along with the answers to these and other questions, this book provides information on diagnosis, treatment, living with MD, new therapeutic options, and more. Written by a leading expert on the topic with more than 20 years experience caring for patients with MD, 100 Questions & Answers About Muscular Dystrophy is an easy-to-read book and must-have resource for those living with MD, as well as their loved ones.
Muscular Dystrophy - Research Update and Therapeutic Strategies is for students, researchers, and clinicians interested in muscular dystrophies who want to improve their knowledge of these complex genetic diseases. The book includes information about the genetics of various types of muscular dystrophies as well as explores new and current therapeutic strategies that aim to ameliorate symptoms and improve patients’ quality of life and life expectancy. In addition, this book reviews information on current clinical trials for muscular dystrophies and presents a framework for what to consider during the design of these trials.
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.
Skeletal muscle is a highly plastic organ that is modulated by various pathways controlling protein turnover. Muscle loss is common in muscular dystrophy, in which marked loss of various proteins such as the dystrophin-glycoprotein complex occurs around muscle fibers. This book provides a comprehensive overview of the various muscular dystrophies, including characteristics, diagnosis, and classification. General treatment of drugs (e.g. corticosteroids) and physical therapy for muscular dystrophies are discussed. In addition, current applications for cell and tissue engineering using muscle stem cells or gene therapy are introduced. This book also deals with the recent advances in appropriate models of drug screening using cell cultures or mammalian organs in vitro in this field.
This book presents a collection of chapters covering a spectrum of muscular dystrophies and one myopathy that represent most of the major muscular dystrophies, and, in particular, those where a molecular understanding of the underlying mechanisms is most advanced.
Duchenne muscular dystrophy (DMD) is a fatal genetic muscle disease with no cure. DMD results from mutations in a critical muscle protein called dystrophin. Children born with DMD suffer severe muscle wasting leading to progressive weakness and paralysis. Patients usually die of respiratory or heart failure before the age of thirty. Gene therapy raises the hope of a cure for DMD heart disease. While significant strides have been made towards therapy for skeletal muscle disease, development of heart gene therapy lags behind. The seminal questions for realization of heart gene therapy of DMD include; developing an animal model, determining dosage, finding the correct gene, developing the vehicle for gene therapy and optimizing gene delivery. This dissertation details critical advancements towards gene therapy for DMD heart disease. First, we developed an animal model of DMD heart disease in the mdx mouse. We then determined that 50% mosaic dystrophin expression was sufficient to prevent DMD heart disease in this model. Next, we established that the truncated mini-dystrophin gene was capable of ameliorating DMD heart disease in the mdx mouse through cardiac specific transgenic expression. Then, we established the adeno-associated virus (AAV) as a vehicle for DMD heart gene therapy regardless of mouse age or the route of administration. Finally, we discovered that AAV-mediated truncated dystrophin gene therapy prevented DMD heart disease in neonatal mdx mice and ameliorated heart disease in symptomatic mdx mice. This work represents significant progress towards realization of an effective therapy for DMD heart disease.
There are 8 different known types of this disorder, and some Muscular Dystrophy can actually be discovered during pregnancy, according to HRF. This guidebook provides essential information on MD, but also serves as a historical survey, by providing information on the controversies surrounding its causes, and first-person narratives by people coping with MD. Patients, family members, or caregivers explain the condition from their own experience. The symptoms, causes, and treatments are explained in detail. Essential to anyone trying to learn about diseases and conditions, the alternative treatments are explored. Each essay is carefully edited and presented with an introduction, so that they are accessible for student researchers and readers.
Duchenne muscular dystrophy (DMD) is a lethal disease caused by the loss of the dystrophin protein. Loss of mobility is a key clinical presentation in DMD. It is believed that deterioration in the mechanical properties (contractile and passive properties) of skeletal muscle contribute to reduction in mobility. These two sets of properties are inseparable aspects of muscle function. For example, elbow flexion is accomplished by the contraction of muscles in the anterior compartment of the upper arm and the passive stretch of muscles in the posterior compartment of the upper arm. To improve mobility of patients, both contractile and passive properties must be restored. Gene therapy holds great promise for treating DMD. Restoration of dystrophin expression using gene replacement strategies has improved the contractile force in mouse models of DMD. However, it is not yet known if gene replacement can also improve the passive properties. To address this concern, I performed comprehensive studies in my dissertation that provided new information on the passive properties changes in skeletal muscles of murine models of DMD, and have also offered new insights on how different strategies of gene replacement therapy may help improve the passive muscle properties in DMD. Together, these studies provided support to further develop dystrophin gene therapy to improve the loss of mobility in DMD patients.
This guide provides everything teachers and parents need to know to support a child or young person with Duchenne Muscular Dystrophy (DMD) at school and home. Medical experts and practitioners working with children with Duchenne in schools give advice on learning and behavioural concerns, physical management and the transition to adulthood.