Skeletal muscle is the most abundant tissue in the body comprising 30 to 40% of your total mass. Their main function is to enable the human body to produce the force needed to move and function. A large series of pathological conditions can affect skeletal muscle, from mild injuries to serious or even life-threatening myopathies. These latter include skeletal muscle dystrophies which encompass a heterogeneous group of more than 30 distinct pathologies causing progressive and irreversible degeneration of skeletal muscle fibers. The causes are genetic; hence, a family with a history of muscular dystrophy increases the chance of having a child affected by the disorder. Diagnosis of inherited myopathies is frequently challenging due to broad genetic and phenotypic heterogeneity. As if that weren’t enough, the prognosis is often, if not always, poor for the majority of these conditions since there are no treatments available. Currently available treatments can only help manage and reduce the severity of symptoms. However, the recent technologies led to the identification of responsible genes causing these conditions thus leading to an improvement in the diagnosis and the clinical course of patients. Therefore, a better understanding of the pathogenesis of the disease is pivotal for the development of individual therapies. In this book, thanks to the contribution of all the authors, we aim at gathering information about the latest discoveries and novel research trends concerning technologies and methods underpinning diagnostic and therapeutic advancements in genetic rare orphan diseases.
