Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies
ISBN/ASIN: 9789048128129,9789048128136 | 2009 | English | pdf | 304/311 pages | 3.22 Mb
Publisher: Springer Netherlands | Author: Carmen Navarro, Susana Teijeira, Beatriz San Millán (auth.), Carmen Espinós, Vicente Felipo, Francesc Palau (eds.) | Edition: 1
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.