Inherited Neuromuscular Diseases : Translation from Pathomechanisms to Therapies / edited by Carmen Espinós, Vicente Felipo, Francesc Palau.

Springer eBooks

Pathology and Diagnosis of Muscular Dystrophies -- Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations -- Genetics and Pathogenesis of Distal Muscular Dystrophies -- Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozyme® -- Diseases of the Human Mitochondrial Oxidative Phosphorylation System -- Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes -- Mitochondrial Disorders Due to Nuclear OXPHOS Gene Defects -- Coenzyme Q10 Deficiencies in Neuromuscular Diseases -- The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth Disease -- Pathogenesis and Treatment of Mitochondrial Disorders -- Biology of Peripheral Inherited Neuropathies: Schwann Cell Axonal Interactions -- Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication -- Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes -- Natural History and Treatment of Peripheral Inherited Neuropathies -- Spinal Muscular Atrophy During Human Development: Where Are the Early Pathogenic Findings? -- Spinal Muscular Atrophy -- Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies -- Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias.

This book represents the state of the art of neuromuscular diseases as a whole, including muscular dystrophies, mitochondrial disorders, peripheral neuropathies, spinal muscular atrophy, motoneurone disease and Friedreich ataxia. It offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments. Many genes with neuromuscular disorders have been reported, confirming the wide genetic heterogeneity of most of diseases of the peripheral nervous system. Genetic analyses allow the unequivocal diagnosis of neonatal, paediatric and adult disease whose etiology has a genetic basis, thus providing a more accurate prediction of natural history and prognosis, and reproductive planning for the family, not only offering genetic counselling and prenatal diagnosis but also preimplantational genetic diagnosis. Moreover, for a number of them molecular and cell pathogenesis is suggesting new molecular targets and, more relevant, novel therapeutic approaches are currently developing to manage and treat these disorders including new drugs and gene and cellular therapies. This is a reference book for neurologists and researchers interested in genetics, cellular biology, pathomechanisms, therapies and treatments of neuropathies.

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