Myotonic Dystrophies: Epidemiology, Diagnosis and Therapeutic Challenges

Sandra Jenkins (Editor)

Series: Neuroscience Research Progress
BISAC: MED057000

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$192.00

Volume 10

Issue 1

Volume 2

Volume 3

Special issue: Resilience in breaking the cycle of children’s environmental health disparities
Edited by I Leslie Rubin, Robert J Geller, Abby Mutic, Benjamin A Gitterman, Nathan Mutic, Wayne Garfinkel, Claire D Coles, Kurt Martinuzzi, and Joav Merrick

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Myotonic dystrophy is a multisystemic disorder. The epidemiology of DM is examined in the first chapter of this book as well as potential therapeutic strategies. The authors then go on to review the various involvement of the endocrine system in myotonic dystrophy and therapeutic strategies are proposed. The fourth chapter gives an overview on the diagnostic assessment and management of distinct clinical manifestations of CNS (Central Nervous System) involvement in DM patients, and the main topics regarding its pathogenesis are explored.

The next chapter focuses on the strategy of neuromuscular blockage for patients with myotonic dystrophy, especially focusing on premedication, induction of anaesthesia, response to muscle relaxants, the crucial points of safe anaesthesiological care and other perioperative triggers. The development of biomarkers is of high importance in the diagnosis and monitoring of diseases and thus is examined with relation to DM1 (myotonic dystrophy type 1) patients. Other chapters summarize the different rehabilitative approaches that have been proposed in this disease; the novel, interesting findings of therapeutic potential to target DM1 with small molecule kinase inhibitors and the promises his may provide to this devastating disorder; the controversial, phenotypical consequences of the interrupted alleles on DM1 patients; and the sleep disorders associated with myotonic dystrophies.
(Imprint: Nova Biomedical)

Preface

Chapter One
Epidemiology of Myotonic Dystrophy in the Molecular Era: Implications for Clinical Trials and Association Studies
(Roberto Massa, and Nicola Vanacore, Center for Neuromuscular Disorders, Department of Systems Medicine, University of Rome Tor Vergata, Rome Italy, and others)

Chapter Two
Detecting and Targeting RNA: Biomarkers and Therapy for Myotonic Dystrophy
(Nikolaos P. Mastroyiannopoulos, Andrie Koutsoulidou and Leonidas A. Phylactou, Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus)

Chapter Three
Endocrine System Involvement in Myotonic Dystrophy: Emerging Interactions and Potential Therapeutic Strategies
(Chiara Terracciano and Elisabetta Bucci, Department of Systems Medicine, Division of Neurology, and Department of Experimental Medicine and Surgery, Division of Clinical Biochemistry, University of Rome Tor Vergata, Rome, Italy, and others)

Chapter Four
Central Nervous System Involvement in Myotonic Dystrophies
(Gabriella Silvestri, Anna Modoni, Maria Laura E. Bianchi, Camillo Marra, Department of Geriatrics, Neuroscience and Orthopedics, UCSC, Rome, Italy)

Chapter Five
Strategies for Neuromuscular Blockade in Patients with Myotonic Dystrophy
(Petr Stourac, and Olga Smekalova, Department of Paediatric Anaesthesiology and Intensive Care Medicine, Faculty of Medicine, University Hospital Brno, Brno, Czech Republic, and others)

Chapter Six
Functional Assessment and Rehabilitative Treatment in Myotonic Dystrophy Type 1
(Carmelo Chisari, Caterina Tramonti, Stefania Dalise, Federica Bertolucci, Bruno Rossi, Unit of Neurorehabilitation, Department of Neuroscience, University Hospital of Pisa, Italy)

Chapter Seven
Protein Kinase Inhibitors as Potential Therapeutic Agents to Ameliorate Pathogenesis of Myotonic Dystrophy Type 1 (DM1)
(Marzena Wojciechowska and Piotr Kozlowski, Polish Academy of Sciences, Institute of Bioorganic Chemistry, European Centre of Bioinformatics and Genomics (ECBiG), Poznan, Poland)

Chapter Eight
Variant Interrupted DMPK Alleles: Implications in the Pathogenesis and Molecular Diagnosis of Myotonic Dystrophy Type 1 (DM1)
(Santoro Massimo, Masciullo Marcella, Novelli Giuseppe and Botta Annalisa, Fondazione Don Carlo Gnocchi, Milan, Italy, and others)

Chapter Nine
Sleep and its Characteristics in the Myotonic Dystrophies
(Natan Gadoth, Arie Oksenberg, Sleep Disorders Unit, Loewenstein Hospital, Rehabilitation Center, Raanana, Israel, and others)

Chapter Ten
Respiratory and Sleep Disorders in Children with Myotonic Dystrophy
(James D. Tutor, and Brent Haberman, Programs in Pediatric Pulmonary and Sleep Medicine, University of Tennessee Health Science Center, Le Bonheur Children’s Hospital, and St. Jude Children’s Research Hospital, Memphis, TN, USA)

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