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Facioscapulohumeral Muscular Dystrophy Fshd

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Facioscapulohumeral Muscular Dystrophy Fshd

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Author : David Cooper
language : en
Publisher: Garland Science
Release Date : 2004-03-01

Facioscapulohumeral Muscular Dystrophy Fshd written by David Cooper and has been published by Garland Science this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004-03-01 with Medical categories.

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, affecting 1 in 20,000. The search for the molecular basis of the disease is of interest to all genetic researchers, involving a deletion outside a coding region resulting in over-expression of adjacent genes. This volume summarizes the current understanding of the disorder, including clinical, molecular and therapeutic aspects.

Fshd Facioscapulohumeral Muscular Dystrophy

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Author : Meena Upadhyaya
language : en
Publisher: Taylor & Francis
Release Date : 2004-01

Fshd Facioscapulohumeral Muscular Dystrophy written by Meena Upadhyaya and has been published by Taylor & Francis this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004-01 with Medical categories.

Disorders Of Voluntary Muscle

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Author : George Karpati
language : en
Publisher: Cambridge University Press
Release Date : 2001-07-12

Disorders Of Voluntary Muscle written by George Karpati and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-07-12 with Medical categories.

Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Muscle Metabolism And Cyclin A1 In Facioscapulohumeral Muscular Dystrophy 1 Fshd 1

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Author :
language : en
Publisher:
Release Date : 2015

Muscle Metabolism And Cyclin A1 In Facioscapulohumeral Muscular Dystrophy 1 Fshd 1 written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015 with categories.

Facioscapulohumeral Muscular Dystrophy

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Author : Robin Warner
language : en
Publisher:
Release Date : 2019

Facioscapulohumeral Muscular Dystrophy written by Robin Warner and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019 with Electronic books categories.

A complex combination of molecular pathways and cell interactions causes facioscapulohumeral muscular dystrophy (FSHD). Several new therapies pose a promising solution to this disease with no cure. This chapter aims to explain the genetics of facioscapulohumeral muscular dystrophy, and review the current clinical trials for the treatment of FSHD.

Gene Therapy For Facioscapulohumeral Muscular Dystrophy

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Author : Lindsay M. Wallace
language : en
Publisher:
Release Date : 2012

Gene Therapy For Facioscapulohumeral Muscular Dystrophy written by Lindsay M. Wallace and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012 with categories.

Abstract: Facioscapulohumeral muscular dystrophy is the most common inherited muscular dystrophy though no treatment exists. The lack of therapeutic development for FSHD is directly linked to insufficient understanding of how the disease is caused. The goals of the studies presented here were to gain a better understanding of the pathogenic mechanisms of FSHD and to develop targeted translational therapies to treat the disease. FSHD is associated with D4Z4 repeat contraction on human chromosome 4q35, which does not result in complete loss or mutation of any gene. Consequently, the major obstacle to discerning the underlying pathogenic mechanism is to identify the cause. Although no gene was conclusively linked to FSHD development, evidence supported a role for the D4Z4-encoded DUX4 gene. In Chapter 3, our objective was to test the in vivo myopathic potential of DUX4. We delivered DUX4 to zebrafish and mouse muscle by transposon-mediated transgenesis and adeno-associated viral vectors, respectively. We found over-expression of DUX4 caused abnormalities associated with muscular dystrophy in both animal models. This toxicity required DNA binding, since a DUX4 DNA binding domain mutant produced no abnormalities. We also found the toxic effects of DUX4 were p53-dependent. This study demonstrated the myopathic potential of DUX4 in animal muscle and provided a p53-dependent mechanism for DUX4-induced toxicity. Considering previous studies showed DUX4 was elevated in FSHD patient muscles, our data support the hypothesis that DUX4 over-expression contributes to FSHD development. With DUX4 as a potential target, gene silencing approaches could provide treatment for FSHD. With as many as 29 different gene mutations responsible for other dominant myopathies, gene silencing approaches could have a broad impact. Feasible mechanisms to silence dominant disease genes have lagged behind gene replacement strategies, but with the discovery of RNA interference (RNAi) and its subsequent development into a promising new gene silencing tool, the landscape has changed. In Chapter 4, our objective was to demonstrate proof-of-principle for RNAi therapy of a dominant myopathy in vivo. We tested the potential of AAV-delivered therapeutic microRNAs, targeting the human Facioscapulohumeral muscular dystrophy (FSHD) Region Gene 1 (FRG1), to correct myopathic features in mice expressing toxic levels of human FRG1 (FRG1-high mice). We found that FRG1 gene silencing improved muscle mass, strength, and histopathological abnormalities associated with muscular dystrophy in FRG1-high mice, thereby demonstrating therapeutic promise for treatment of FSHD and other dominantly inherited myopathies using RNAi. Next we applied this therapeutic strategy to FSHD by targeting DUX4. Several recent studies support an FSHD pathogenesis model involving over-expression of the myopathic DUX4 gene making it the most promising therapeutic target. In Chapter 5, we tested a pre-clinical RNAi-based DUX4 gene silencing approach as a prospective treatment for FSHD. We found that AAV vector-delivered therapeutic microRNAs corrected DUX4-associated myopathy in mouse muscle. These results provide proof-of-principle for RNAi therapy of FSHD through DUX4 inhibition. Together these studies have helped define the main pathogenic insult in FSHD and laid out a plausible, targeted therapy to treat the disease.

Genetic Neuromuscular Disorders

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Author : Corrado Angelini
language : en
Publisher: Springer
Release Date : 2017-10-05

Genetic Neuromuscular Disorders written by Corrado Angelini and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-10-05 with Medical categories.

This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.

Muscle Gene Therapy

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Author : Dongsheng Duan
language : en
Publisher: Springer
Release Date : 2014-09-09

Muscle Gene Therapy written by Dongsheng Duan and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-09-09 with Medical categories.

Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy.

Neurogenetics

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Author :
language : en
Publisher: Elsevier
Release Date : 2018-01-09

Neurogenetics written by and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-01-09 with Medical categories.

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Neuromuscular Case Studies E Book

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Author : Tulio E. Bertorini
language : en
Publisher: Elsevier Health Sciences
Release Date : 2008-05-14

Neuromuscular Case Studies E Book written by Tulio E. Bertorini and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-05-14 with Medical categories.

In this unique book, Dr. Bertorini guides you through more than 100 cases that demonstrate the diagnosis and management of a wide range of common and rare neuromuscular disorders. No other reference boasts such a large array of clinical studies devoted to all areas of this broad topic! Each case study reviews the etiologies, pathogenesis, differential diagnosis, and management of a particular disorder, helping you not only recognize its presentation, but also determine a diagnosis and the best treatment plans for your patients. You’ll also find expert guidance on the basic mechanisms of neuromuscular disorders, clinical examination, and diagnostic tests—including EMG, muscle biopsy, genetic testing, and more. More than 100 detailed case studies explore both common and rare neuromuscular disorders and the treatment protocols for each, equipping you with the knowledge you need to confidently manage any challenge. Each case includes a summary of important points or highlights of the study. Case studies are arranged either by complaint or by diagnosis so that you can successfully manage your patients with or without an initial diagnosis. Comprehensive coverage of EMGs and nerve conduction studies and other diagnostic tests, including muscle and nerve biopsies and genetic testing, helps you accurately diagnose nerve, muscle, and neuromuscular transmission disorders. Detailed discussions of treatment plans and commonly used drugs enhance your management of autoimmune disorders, painful neuropathy, dysautonomia, and other neuromuscular disorders. A reader-friendly format takes you step by step through the diagnosis and treatment of neuromuscular disorders, from the basic anatomy and physiology of the nerve and muscle through to clinical evaluation, diagnostic testing, and therapy. More than 350 high-quality illustrations, including full-color patient photographs, biopsies, and EMG tracings, make complex concepts easier to understand and apply.

Facioscapulohumeral Muscular Dystrophy Fshd

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