Principles and Practice of the Muscular Dystrophies

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Principles and Practice of the Muscular Dystrophies

Editore

Springer

Anno

2024

Pagine

348

ISBN

9783031440083

I prezzi indicati possono subire variazioni poiché soggetti all'oscillazione dei cambi delle valute e/o agli aggiornamenti effettuati dagli Editori.

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The field of muscular dystrophies has expanded significantly with the discovery of the genetic defects and protein products underlying these disorders. New treatments such as antisense oligonucleotides and siRNAs and gene therapies are now in clinical application and in trials. As clinical trials increase, outcome measurement becomes very important, and more validated tools are being developed.

This book provides a comprehensive review of these disorders. Clinical features, diagnostic testing including genetic testing of these disorders, the basis and utility of genetic testing, and the basis of genetic therapies are all covered in detail.

This book will provide neuromuscular neurologists, general neurologists, and neuromuscular fellows with a much needed update in the field.

    Front Matter
    Pages i-xiv
    PDF
    An Introduction to the Muscular Dystrophies
        Teerin Liewluck, Pushpa Narayanaswami
    Pages 1-9
    Dystrophinopathies
        Partha S. Ghosh, Basil T. Darras
    Pages 11-36
    Myotonic Dystrophies
        Gabriella Silvestri, Anna Modoni
    Pages 37-61
    Facioscapulohumeral Muscular Dystrophy
        Johanna Hamel, Rabi Tawil
    Pages 63-72
    Autosomal Dominant Limb-Girdle Muscular Dystrophies
        Stefan Nicolau, Teerin Liewluck
    Pages 73-91
    Autosomal Recessive Limb-Girdle Muscular Dystrophies
        Jantima Tanboon, Ichizo Nishino
    Pages 93-121
    Oculopharyngeal Muscular Dystrophy
        Bernard Brais
    Pages 123-130
    Distal Muscular Dystrophies
        Bjarne Udd
    Pages 131-146
    GNE Myopathy
        Zohar Argov, Stella Mitrani-Rosenbaum
    Pages 147-158
    Emery-Dreifuss Muscular Dystrophies
        Yukiko K. Hayashi
    Pages 159-174
    Congenital Muscular Dystrophies
        Hugh J McMillan, Maryam Oskoui
    Pages 175-191
    Myopathies with Myofibrillar Pathology
        Pitcha Chompoopong, Margherita Milone
    Pages 193-211
    Oculopharyngodistal Myopathy
        Masashi Ogasawara, Ichizo Nishino
    Pages 213-220
    Genetic Diagnosis and Counseling in Muscular Dystrophies
        Kaitlin Smith, Matthew Wicklund
    Pages 221-231
    Muscle Imaging in Muscular Dystrophies
        Doris G. Leung
    Pages 233-253
    The Role of the Muscle Biopsy in the Era of Genetic Diagnosis
        Edoardo Malfatti
    Pages 255-267
    Systemic Complications of Muscular Dystrophies
        Charles Kassardjian, Teerin Liewluck
    Pages 269-280
    Molecular Genetic Therapies in the Muscular Dystrophies
        Stefan Nicolau, Kevin M. Flanigan
    Pages 281-302
    Physical Therapy, Bracing and Surgical Treatment in Muscular Dystrophies
        Andrew Skalsky, Phoebe Scott-Wyard
    Pages 303-329