Myotonic dystrophies : epidemiology, diagnosis and therapeutic challenges [E-Book]

Includes bibliographical references and index.

Description based on print version record.

MYOTONIC DYSTROPHIES EPIDEMIOLOGY, DIAGNOSIS AND THERAPEUTIC CHALLENGES ; MYOTONIC DYSTROPHIES EPIDEMIOLOGY, DIAGNOSIS AND THERAPEUTIC CHALLENGES ; Contents ; Preface ; Chapter 1 Epidemiology of Myotonic Dystrophy in the Molecular Era: Implications for Clinical Trials and Association Studies ; Abstract ; Introduction ; The Population Origins of DM1 ; The Epidemiology of DM1 ; The Epidemiology of DM2 ; Implications for Clinical Trials and Association Studies ; Conclusion ; References ; Chapter 2 Detecting and Targeting RNA: Biomarkers and Therapy for Myotonic Dystrophy ; Abstract

Introduction Development of Biomarkers for Myotonic Dystrophy Type 1 (DM1) ; Blood-based Biomarkers ; Tissue Biomarkers ; Cerebrospinal Fluid Biomarkers ; Potential Therapeutic Applications for DM1 ; Targeting the Pathogenic DM1 RNA Transcripts ; Exogenous Induction of MBNL1 and CUGBP1 Protein Activity ; Conclusion; References; Chapter 3 Endocrine System Involvement in Myotonic Dystrophy: Emerging Interactions and Potential Therapeutic Strategies ; Abstract; Introduction ; Parathyroid and Thyroid-Related Hormones ; Vitamin D ; Insulin Resistance and Metabolic Syndrome

Adrenocortical Activity Hypogonadism and Fertility ; Conclusion ; References ; Chapter 4 Central Nervous System Involvement in Myotonic Dystrophies ; Abstract ; Introduction ; Cognitive Impairment in Myotonic Dystrophy Type 1 (DM1, Steinert's Disease) ; Cognitive Involvement in DM2 ; Sleep Related Disorders in DM1 and DM2 ; Conclusion ; References ; Chapter 5 Strategies for Neuromuscular Blockade in Patients with Myotonic Dystrophy ; Abstract ; The Physiology of Neuromuscular Transmission ; Myotonic Pathophysiology from an Anaesthesiology Viewpoint ; Premedication

Induction of Anaesthesia Response to Muscle Relaxants ; Reverse of Neuromuscular Blockade ; Other Perioperative Triggers ; Management of Anaesthesia in Patients with Myotonic Dystrophy; Caesarean Section ; Scoliosis Surgery ; General Surgery ; Conclusion ; Acknowledgment ; Reference; Chapter 6 Functional Assessment and Rehabilitative Treatment in Myotonic Dystrophy Type 1 ; Abstract ; Introduction; 1. Functional Assessment ; 1.1. Muscle Strength; 1.2. Posture and Gait Abilities ; Clinical Evaluation: Muscle Efficiency ; Rehabilitative Treatment ; References

Chapter 7 Protein Kinase Inhibitors As Potential Therapeutic Agents to Ameliorate Pathogenesis of Myotonic Dystrophy Type 1 (DM1) Abstract ; Introduction; Toxicity of Mutant CUG Repeat RNA and Misregulation of Proteins in DM1 ; Therapeutic Approaches in DM1 ; Potential Mechanisms of Action of Small Molecule Kinase Inhibitors ; Conclusion ; Acknowledgments ; References ; Chapter 8 Variant Interrupted DMPK Alleles: Implications in the Pathogenesis and Molecular Diagnosis of Myotonic Dystrophy Type 1 (DM1) ; Abstract; Molecular Genetics of the DM1 Mutation

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