Principles and Practice of the Muscular Dystrophies

ISBN-13: 9783031440083 / Angielski

Pushpa Narayanaswami; Teerin Liewluck

Spis treści

1.            Introduction and History

2.            Classification of muscular dystrophies

3.            Dystrophinopathies

4.            Myotonic Dystrophy

5.            Facioscapulohumeral dystrophy

6.            Autosomal dominant Limb-Girdle Muscular Dystrophy

7.            Autosomal recessive Limb Girdle Muscular Dystrophy

8.            Oculopharyngeal Muscular Dystrophy

9.            Distal muscular dystrophies

10.          Hereditary Inclusion Body Myopathies

11.          Congenital Muscular Dystrophies

12.          Myofibrillar Myopathies

13.          Diagnostic approach to muscular dystrophies

14.          Genetic diagnosis and counseling in muscular dystrophies

15.          Muscle Imaging in the muscular dystrophies

16.          The role of the muscle biopsy in the era of genetic diagnosis

17.          Systemic complications of muscular dystrophies

18.          Antisense Oligonucleotide and RNA therapies of muscular dystrophies

19.          Physical therapy, bracing and surgical treatment of muscle weakness

20.          Outcome Measures in muscular dystrophy

21.          Clinical trial design in muscular dystrophies

O autorze

Pushpa Narayanaswami, MD

Associate Professor of Neurology, Harvard Medical School

Vice- Chair, Clinical Operations

Department of Neurology

Beth Israel Deaconess Medical Center

Neuroloy TCC-8, BIDMC

330 Brookline Avenue

Boston MA 02215

 

Teerin Liewluck, MD, FAAN 

Consultant, Division of  Neuromuscular Medicine and Muscle Laboratory , Department of Neurology

Associate Professor of Neurology,

Mayo Clinic College of Medicine

200 First Street SW

Rochester, MN 55905

Blurb

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.