Front Cover

Muscular Dystrophies

Copyright

Handbook of Clinical Neurology 3rd Series

Foreword

Preface

List of Contributors

Contents

Chapter 1: Overview of the muscular dystrophies

Introduction

Molecular Pathogenesis for Dystrophies

Clinical Features

Laboratory Features

Muscle Biopsies

Molecular Analysis

Treatments

Summary

References

Chapter 2: Dystrophinopathies

Introduction

Dystrophinopathy Spectrum

Carriers

Neurophysiology and Laboratory features

Pathology

Genetics, Pathophysiology, And pathogenesis

Imaging

Diagnosis

Genotype-phenotype Correlation Studies

Genetic Counseling

Treatment

Emerging Therapies

Clinical Research Issues

Newborn Screening

Conclusions

References

Chapter 3: Sarcoglycanopathies

Introduction

Epidemiology

Pathophysiology

Animal Models

Clinical Presentation

Diagnostic Approach

Treatment

References

Chapter 4: Congenital muscular dystrophies

Congenital Muscular Dystrophies

Muscle Proteins and the Dystrophin-glycoprotein Complex

Defects of Structural Proteins

Defects of Glycosylation

Clinical Dystroglycanopathy Syndromes

Genes Involved in the Dystroglycanopathies (Table4.3)

Other Dystroglycanopathies

Proteins of the Endoplasmic Reticulum and Nucleus

Other Congenital Muscular Dystrophies With Chromosomal Linkage

Other Congenital Muscular Dystrophies

Conclusions

References

Chapter 5: The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy

Introduction

Clinical Features

Collagen Vi and Molecular Pathogenesis

Mutational Spectrum/genotype-phenotype Correlations

Diagnosis, Differential Diagnosis, Genetic Counseling, and Treatment

References

Chapter 6: Limb-girdle muscular dystrophy 2A

Introduction

Clinical Features

Epidemiology

Laboratory Features

Pathogenesis

Future and Current Research

Diagnosis and Treatment

References

Chapter 7: Dysferlinopathies

Introduction

Clinical Features

Laboratory Features

Pathogenesis

Future and Current Research

Diagnosis and Treatment

References

Chapter 8: Other limb-girdle muscular dystrophies

Introduction

Limb-girdle Muscular Dystrophies Associated With impaired Glycosylation Of α-dystroglycan

Lgmd2G (telethoninopathy)

Lgmd2L (anoctaminopathy)

Conclusion

References

Chapter 9: Limb-girdle muscular dystrophy 2H and the role of TRIM32

Introduction

Trim32 Protein

Sarcotubular Myopathy

Trim32 and Bardet-Biedl Syndrome

Mouse Model of Lgmd2H

Biological Role of Trim32

Potential Roles of Trim32 in Normal and Diseased Muscle

Hypothetical Mechanism By Which Impaired Protein Turnover Might Lead to Cell Dysfunction

References

Chapter 10: Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders

Introduction

Cav-3 Deficiency and Skeletal Muscle Diseases

Cav-3 Deficiency and Heart Disorders

Ptrf Mutations and Secondary Cav-3 Defects

Pathogenetic Mechanisms of Muscle Degeneration in Cav-3 Deficiency

References

Chapter 11: Myofibrillar myopathies

Definition and Basic Principles

Morphology

Desminopathy

B-crystallinopathy

Myotilinopathy

Zaspopathy

Filaminopathy

Bag3opathy

Therapeutic Approaches

Concluding Comment

Acknowledgments

References

Chapter 12: Emery–Dreifuss muscular dystrophy

Introduction

Historical Review

Clinical Features

Genetics and Molecular Pathology

Mechanisms of Disease

Models of Edmd

Conclusions

Acknowledgments

References

Chapter 13: Facioscapulohumeral dystrophy and scapuloperoneal syndromes

Introduction

Epidemiology

Pathogenesis and Genetics

Clinical Features

Investigation

Prognosis

Management

Scapuloperoneal Syndrome

Conclusion

References

Chapter 14: Oculopharyngeal muscular dystrophy

Definition

Clinical Features

Laboratory Findings

Histopathology

Molecular Genetics

Pathogenesis

Diagnosis

Genetic Counseling

Differential Diagnosis

Therapy

Unsolved Problems

References

Chapter 15: Myotonic dystrophy types 1 and 2

Introduction

Clinical Features

Diagnosis and Genetic Counseling of Myotonic Dystrophy Types 1 and 2

Genetics of Myotonic Dystrophy Types 1 and 2

Mutations of Myotonic Dystrophies

Molecular Pathogenesis of Myotonic Dystrophy Type 1

Management of Clinical Manifestations

References

Chapter 16: Distal muscular dystrophies

Introduction

Welander Disease

Tibial Muscular Dystrophy (Tmd) - Titinopathy (udd Myopathy)

Zasp Distal Dystrophy - Markesbery-Griggs Disease

Distal Myotilinopathy

Myosinopathy - Laing Distal Myopathy

Distal Dysferlinopathy - Miyoshi Myopathy (Mm)

Gne-mutated Disease - Nonaka Distal Myopathy

Distal Nebulinopathy

Vocal Cord and Pharyngeal Distal Myopathy (Vcpdm)

Other Distal Dystrophies - Single families

Distal Phenotype in Other Myopathies

Conclusions

References

Index