title: Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis.
abstract: Extraordinary breakthroughs in the molecular pathogenesis of muscle and nerve disease have resulted in an evolving genetic classification of neuromuscular disorders and the development of new diagnostic methods. This remarkable progress has introduced new genetic tests and has changed the indications for use of certain invasive diagnostic procedures in the evaluation of children with presumed disorders of the motor unit. In this review, we present the current diagnostic approach to the more common neuromuscular diseases of infancy and childhood and define the diagnostic role of muscle biopsy and pediatric electromyography/nerve conduction studies in the era of genetic analysis.
authors.affiliation: Neuromuscular Program, Department of Neurology, Children's Hospital;, Boston, Massachusetts 02115, USA.
authors.forename: B T
authors.initials: BT
authors.lastname: Darras
authors.forename: H R
authors.initials: HR
authors.lastname: Jones
mesh_terms: D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D004576:Electromyography; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D020967:Myotonic Disorders / Q000175:diagnosis / Q000235:genetics; D009431:Neural Conduction / Q000235:genetics; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA