*A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology. *International list of contributors including the leading workers in the field. *Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care.
*A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology.
*International list of contributors including the leading workers in the field.
*Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care.
"This is the third of three volumes on pediatric neurology, a topic that was previously omitted from the series. It contains 64 chapters assembled by Dulac… and coeditors Lassonde and Sarnat and contributed by neurologists, neuroscientists, pediatricians, and others from around the world, who address the diagnosis and treatment, as well as other facets, of neuromuscular disorders, cranial nerves and brainstem dysfunction, inborn errors of metabolism, heredodegenerative disorders, and postnatal toxic and induced disorders."—Reference & Research Book News, December 2013
SECTION 14 Neuromuscular Disorders Diagnostic work-up for neuromuscular diseases; Main steps of the skeletal muscle development in human: Morphological analysis and ultrastructural characteristics of developing human muscle; Arthrogryposis and fetal hypomobility syndrome; Congenital myopathies; Myofibrillar myopathies; Progressive muscular dystrophies; Emery-Dreifuss muscular dystrophy, laminopathies and other nuclear envelopathies; Congenital muscular dystrophies; Congenital and infantile myotonic dystrophy; Spinal muscular atrophies; Hereditary motor-sensory, motor and sensory neuropathies in childhood; Muscle channelopathies and related diseases; Metabolic neuropathies and myopathies; Juvenile dermatomyositis; Autoimmune myasthenia gravis; Congenital myasthenic syndromes; Neuromuscular complications of intensive care; Respiratory care in neuromuscular disorders; Medical and psychosocial considerations in rehabilitation care of childhood neuromuscular diseases; Innovating therapies for muscle diseases SECTION 15 Cranial nerves and brainstem dysfunction Eye movement control and its disorders; The optic nerve and visual pathways; Hearing loss and deafness in the paediatric population: causes, diagnosis and rehabilitation; Congenital feeding and swallowing disorders SECTION 16 Inborn errors of metabolism and storage diseases Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases; Metabolic diagnostic work-up in chronic conditions; Inborn errors of brain myelin formation; Peroxisomal disorders; Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy; Leukodystrophies with astrocytic dysfunction; Aicardi-Goutières syndrome; Disorders of nucleotide excision-repair; Respiratory chain deficiencies; Disorders of pyruvate metabolism; Disorders of fatty acid oxidation; Glucide metabolism disorders (excluding glycogen myopathies); Lysosomal diseases: biochemical pathways and investigations; Neuronal ceroid lipofuscinoses; Gangliosidoses; Gaucher disease; Niemann-Pick diseases; Mucopolysaccharidoses and mucolipidoses; Progressive myoclonus epilepsy; Congenital disorders of glycosylation; Inborn errors of copper metabolism; Defects in amino acid catabolism and the urea cycle; Amino acid synthesis deficiencies; Epileptic encephalopathy with suppression-bursts and non-ketotic hyperglycinemia; Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E; Pyridoxine and pyridoxalphosphate dependent epilepsies; Monoamine neurotransmitter deficiencies; Metabolic disorders of purine metabolism affecting the nervous system; Creatine deficiency syndromes; Cholesterol metabolism deficiency; Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression; Gene therapy for disorders of the central nervous systems SECTION 17 Heredodegenerative disorders Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration; Joubert syndrome and related disorders; Progressive dystonia; Hereditary spastic paraplegias: one disease for many genes, and still counting; Huntington’s disease in children; Axonal dystrophies SECTION 18 Postnatal toxic and induced disorders Postnatal toxic and acquired disorders; Cerebrovascular complications in children with sickle cell disease