Principles and Practice of the Muscular Dystrophies [E-Book]

An Introduction to the Muscular Dystrophies -- Dystrophinopathies -- Myotonic dystrophies -- Facioscapulohumeral Muscular Dystrophy -- Autosomal Dominant Limb-Girdle Muscular Dystrophies -- Autosomal recessive limb-girdle muscular dystrophy -- Oculopharyngeal Muscular Dystrophy -- Distal Muscular Dystrophies -- GNE MYOPATHY -- Emery-Dreifuss Muscular Dystrophies -- Congenital muscular dystrophies -- Myopathies with myofibrillar pathology -- Oculopharyngodistal myopathy -- Genetic Diagnosis and Counseling in Muscular Dystrophies -- Muscle Imaging in Muscular Dystrophies -- The Role of The Muscle Biopsy in The Era of Genetic Diagnosis -- Systemic Complications of Muscular Dystrophies -- Molecular Genetic Therapies in the Muscular Dystrophies -- Physical therapy, bracing and surgical treatment in muscular dystrophies -- Trial Design and Outcome Measurement in Muscular Dystrophies.

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.