UCL Institute of Neurology, Queen Square, London, UK.
J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):850-7. doi: 10.1136/jnnp.2008.169367. Epub 2010 Jun 14.
Our understanding of transmission at the neuromuscular junction has increased greatly in recent years. We now recognise a wide variety of autoimmune and genetic diseases that affect this specialised synapse, causing muscle weakness and fatigue. These disorders greatly affect quality of life and rarely can be fatal. Myasthenia gravis is the most common disorder and is most commonly caused by autoantibodies targeting postsynaptic acetylcholine receptors. Antibodies to muscle-specific kinase (MuSK) are detected in a variable proportion of the remainder. Treatment is symptomatic and immunomodulatory. Lambert-Eaton myasthenic syndrome is caused by antibodies to presynaptic calcium channels, and approximately 50% of cases are paraneoplastic, most often related to small cell carcinoma of the lung. Botulism is an acquired disorder caused by neurotoxins produced by Clostridium botulinum, impairing acetylcholine release into the synaptic cleft. In addition, several rare congenital myasthenic syndromes have been identified, caused by inherited defects in presynaptic, synaptic basal lamina and postsynaptic proteins necessary for neuromuscular transmission. This review focuses on recent advances in the diagnosis and treatment of these disorders.
近年来，我们对神经肌肉接头传递的理解有了很大的提高。我们现在认识到许多影响这个特殊突触的自身免疫性和遗传性疾病，导致肌肉无力和疲劳。这些疾病极大地影响生活质量，很少会致命。重症肌无力是最常见的疾病，最常见的原因是针对突触后乙酰胆碱受体的自身抗体。在其余的患者中，会检测到肌特异性激酶（MuSK）抗体。治疗方法是对症和免疫调节。Lambert-Eaton 肌无力综合征是由突触前钙通道抗体引起的，约 50%的病例为副肿瘤性的，最常见的与小细胞肺癌有关。肉毒中毒是一种获得性疾病，由肉毒梭菌产生的神经毒素引起，损害乙酰胆碱释放到突触间隙。此外，还发现了几种罕见的先天性肌无力综合征，是由于神经肌肉传递所必需的突触前、突触基底膜和突触后蛋白的遗传缺陷引起的。这篇综述重点介绍了这些疾病的诊断和治疗的最新进展。
