Franklin

Pediatric Neurology, Part III.

Other records:
Author/Creator:
Dulac, Olivier.
Publication:
Oxford : Elsevier, 2013.
Series:
Issn Ser.
Issn Ser. ; v.Volume 113
Format/Description:
Book
1 online resource (731 pages)
Subjects:
Pediatric neurology.
Form/Genre:
Electronic books.
Summary:
The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology - not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research.
Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed - brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. 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.
Contents:
Front Cover
Pediatric Neurology Part III
Copyright
Handbook of Clinical Neurology 3rd Series
Foreword
Preface
Contributors
Contents of Part III
Contents of Part I
Contents of Part II
Section 14: Neuromuscular disorders
Chapter 136: Diagnostic workup for neuromuscular diseases
The clinical history
Clinical examination
Conclusions
A diagnostic algorithm for neuromuscular diseases
Diagnostic strategy depends on the child's age and clinical presentation
Conclusions
References
Chapter 137: Main steps of skeletal muscle development in the human: Morphological analysis and ultrastructural characteri ...
Morphological analysis of developing human muscle
Histoenzymological and immunocytochemical features
Conclusion
Ultrastructural characteristics of developing human muscle
References
Chapter 138: Arthrogryposis and fetal hypomobility syndrome
Introduction
Definition and terminology
Incidence
Diagnostic criteria and pathogenesis
Prenatal recognition and radiological approach
Etiology and genetics
Diagnostic evaluation
Differential diagnosis
Natural history
Management and treatment
Conclusions
References
Chapter 139: Congenital myopathies
Introduction
Overview of clinical aspects
Congenital myopathies with cores
Central core disease
Clinical features
Muscle biopsy
Genetics
Multiminicore disease
Clinical features
Muscle biopsy
Genetics
Core-rod myopathy
Congenital myopathy with prominent nuclear internalization and large and diffuse areas of structural disorganization
Congenital myopathies with protein aggregates
Nemaline myopathy (NM)
Clinical features
Muscle biopsy
Genetics
Actin filament aggregate myopathy (AFAM) and cap disease
Myosin storage myopathy.
Congenital myopathies with central nuclei
Myotubular myopathy
Clinical features
Muscle biopsy
Autosomal centronuclear myopathies
Clinical features
Muscle biopsy
Genetics
``Necklace´´ fiber myopathy: MTM1-related centronuclear myopathy
Congenital myopathies with abnormal fiber ratios or sizes
Congenital fiber type disproportion (CFTD)
Congenital neuromuscular disease with uniform type 1 fibers (CNMDU1)
Concluding remarks
References
Chapter 140: Myofibrillar myopathies
Introduction
Myofibrillar myopathies with early disease onset
Desminopathy
αB-Crystallinopathy
Myofibrillar myopathy caused by BAG3 mutations
Myofibrillar myopathy-related entities with early onset
Diagnosis
Therapy and follow-up
References
Chapter 141: Progressive muscular dystrophies
Introduction
Duchenne and becker muscular dystrophies
History
Epidemiology
Clinical features and natural history of Duchenne muscular dystrophy
Clinical features of Becker type muscular dystrophy
Central nervous involvement
Carrier state and dystrophinopathy in females
Syndromic Duchenne with large deletion and other differential diagnoses
Diagnostic tools and approaches
DMD Gene and molecular pathology
DMD (or dystrophin) gene structure and expression
The dystrophin protein
Dystrophin-associated protein complex
Mutations in the DMD gene
Diagnostic strategy
Pathophysiology of duchenne muscular dystrophy
Prevention, carrier detection, prenatal diagnosis, and genetic counseling
Management and care in duchenne muscular dystrophy
Standard care
Cardiac care
Respiratory care
Orthopedic management
Pharmacological assay
Other progressive muscular dystrophies in children
Limb-girdle muscular dystrophy
Sarcoglycanopathies
LGMD2A (calpainopathy).
LGMD2B (dysferlin)
Caveolin
Facioscapulohumeral dystrophy
LGMD2L (anoctamin 5)
References
Chapter 142: Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies
Introduction
The nuclear envelope
Pathophysiology
Clinical spectrum
Striated muscle disorders
Lamin-related congenital muscular dystrophy
Emery-Dreifuss muscular dystrophy
Limb-girdle muscular dystrophy type 1B (LGMD1B)
Dilated cardiomyopathy with conduction defects (CMD1A or DCM-CD)
Differential diagnosis in striated muscle laminopathies
Genotype-phenotype correlations
Management and treatment
Prevention
Disorders of the peripheral nerve
Premature aging disorders
Other disorders
Autosomal dominant dunnigan type of familial partial lipodystrophy
References
Chapter 143: Congenital muscular dystrophies
Introduction
Epidemiology
Congenital muscular dystrophies related to extracellular matrix defects
Laminin α-2 (merosin)-deficient congenital muscular dystrophy (MDC1A)
Ullrich congenital muscular dystrophy
Rigid spine congenital muscular dystrophy
Congenital muscular dystrophies caused by glycosylation defects of α-dystroglycan
Congenital muscular dystrophy type 1C
Fukuyama congenital muscular dystrophy
Muscle-eye-brain disease
Walker-Warburg syndrome
Diagnostic approach
Treatment options and perspectives
References
Chapter 144: Congenital and infantile myotonic dystrophy
Introduction
Classification
Congenital forms (CDM1)
CDM1 severe form
CDM1 milder form
Evolution of CDM (severe or less severe)
Other childhood forms: infantile and juvenile DM1
First clinical signs
Laboratory investigations
Pathophysiology
Molecular biology and phenotype/genotype correlations
Treatment
Conclusions
References.
Chapter 145: Spinal muscular atrophies
Introduction
History
Epidemiology
General description of proximal spinal muscular atrophy
Spinal cord motor neuron degeneration
Brainstem motor neuron degeneration
Relative preservation of sensory neurons
Diencephalic dysfunction
Preservation of cortical neurons
Thalamic and cerebellar lesions
Classification
Diagnosis
Genetic testing
Electrophysiology
Muscle biopsy
Biochemistry
Phenotypes according to the type
SMA type I
SMA with antenatal onset (SMA 0)
Classical SMA type I (SMA 1)
Late onset SMA type I
SMA type II
Orthopedic complications
Respiratory complications
Nutritional and gastrointestinal complications
SMA type III
Evolution and natural history of spinal muscular atrophy
Survival in SMA type I
Natural history of SMA type II
Natural history of SMA type III
Genotype-phenotype correlation in spinal muscular atrophy linked to SMN1
Care and management for spinal muscular atrophy patients
Family education and counseling
Genetic counseling
Standard of care for SMA type I
Respiratory care
Nutritional management
Orthopedic care
Standard of care for SMA type II
Respiratory care
Orthopedic management and rehabilitation
Gastrointestinal and nutritional support
Acute care management
Standard of care for SMA type III
Pathogenesis of spinal muscular atrophy linked to SMN1 gene
SMN, RNA metabolism, and motor neuron degeneration
Disease phenotype of animal models for SMA
Therapeutic strategies in spinal muscular atrophy
SMN2: an attractive therapeutic target
Neuroprotection
Reprogramming neurons for in vitro disease modeling and drug discovery
Other therapeutic strategies and general considerations
Spinal muscular atrophy variants
Conclusion
Acknowledgments.
References
Chapter 146: Hereditary motor-sensory, motor, and sensory neuropathies in childhood
Introduction
Pathophysiology of nerve fiber degeneration: electrophysiological examination
Neurological and genetic classifications of hereditary neuropathies
From phenotype to genotype, and vice versa
I ruling out a neuropathy secondary to a hereditary general disease
Monogenic metabolic diseases
Lysosomal storage diseases (specific hydrolase deficiencies) complicated by peripheral neuropathy
Other lysosomal diseases
Peroxisomal disorders
Mitochondrial OXPHOS deficiency
Intermediary metabolisms of amino acids and other simple substrates
Disorders of posttranslational glycosylation
Specific systemic carriers
Monogenic degenerative diseases recognizable by nonbiochemical markers
II Primary neuropathies
IIa Hereditary motor sensory neuropathies, Charcot-Marie-Tooth disease
AD demyelinating neuropathies (CMT1)
Congenital hypomyelinating neuropathy and Dejerine-Sottas disease
AR hereditary motor sensory neuropathies (CMT4)
Axonal forms (CMT2)
AD intermediate forms
X-linked CMT
IIb Hereditary motor neuropathies
IIc Hereditary sensory and autonomic neuropathies
III Syndromic neuropathies
IIIa Neurological syndromes with postnatal revelation
IIIa1 Classical familial, autosomal dominant syndromes with occasional onset in childhood
IIIa2 Syndromes with autosomal (or X-linked) recessive transmission, with frequent or usual onset in childhood
IIIb Multiorgan syndromes with usually postnatal revelation
IIIc Congenital neuropathies with presentation in the perinatal/early infancy period
Isolated neonatal polyneuropathy
Early syndromes with a marked neurological expression
Congenital syndromes with peripheral neuropathy as a marginal feature
References.
Chapter 147: Muscle channelopathies and related diseases.
Notes:
Description based on publisher supplied metadata and other sources.
Local notes:
Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2021. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.
Contributor:
Lassonde, Maryse.
Sarnat, Harvey B.
Other format:
Print version: Dulac, Olivier Pediatric Neurology, Part III
ISBN:
9780444595775
9780444595652
OCLC:
845254785
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