title: [Pathophysiology on the disorder of neuromuscular transmission defects].
abstract: Neuromuscular transmission defects are often puzzling but challenging diseases for the pediatric and adult neurologists. Some of these disorders entail severe or even life-threatening disability: Most are treatable, but effective therapy requires precise diagnosis sometimes difficult to make especially in congenital defects. The diagnosis rests on the combination of clinical data, the electromyogram and additional studies that may include microelectrode analysis of neuromuscular transmission, ultrastructural and cytochemical studies of neuromuscular junction (NMJ) and biochemical/molecular genetic studies on muscle specimens. Understandably, these studies often depend on the collaboration of several investigators. In each myasthenic disorder, an abnormality affects neuromuscular transmission directly or causes secondary derangements that eventually affects transmission. Namely, lesions of both the presynaptic and/or postsynaptic area manifest a variety of clinical findings. Here was discussed the pathophysiology on myasthenia gravis and Lambert-Eaton myasthenic syndrome of abnormal autoimmunity, congenital myasthenic syndromes of a chromosomal defect, and poisoning of organophosphorus, botulism and some other toxins.
mesh_terms: D000328:Adult; D002648:Child; D006801:Humans; D015624:Lambert-Eaton Myasthenic Syndrome / Q000209:etiology* / Q000503:physiopathology; D009157:Myasthenia Gravis / Q000209:etiology* / Q000503:physiopathology; D009469:Neuromuscular Junction / Q000503:physiopathology*; D009435:Synaptic Transmission