副肿瘤性或自身免疫性神经肌肉接头疾病

定义

NMT疾病的定义是神经肌肉传导功能的可变障碍，导致波动性肌无力和疲劳。这些疾病通常被分为突触前和突触后疾病。 突触前疾病，主要是兰伯特-伊顿肌无力综合征（LEMS）与针对电压门控钙通道（PQ和N型）的抗体有关。LEMS与恶性肿瘤（肺部或肺外小细胞癌）有关，约占50%的病例。在LEMS中，检测SOX 1（抗胶质细胞核）抗体对癌症有很强的预测性。 在突触后，重症肌无力大多（>90%）与针对肌肉乙酰胆碱受体（AChR）的抗体有关，很少与其他蛋白（包括肌肉特异性激酶-MuSK）有关。肌无力通常不被认为是一种副肿瘤性疾病，大约10%的胸腺瘤例外。

NMT disorders are defined by a variable disturbance of the function of the neuromuscular transmission, resulting in fluctuating muscle weakness and fatigue. These are usually classified into pre- and postsynaptic disorders. Presynaptic disorders, mainly the Lambert Eaton Myasthenic Syndrome (LEMS) is associated with antibodies targeting the voltage gated calcium channels (PQ and N type). LEMS is associated with malignancy (pulmonary or extra-pulmonary small cell carcinoma) in about 50% of cases. In the context of LEMS the detection of SOX 1 (anti glial nuclear) antibodies is highly predictive of cancer. Postsynaptically, myasthenia gravis is mostly (> 90%) associated with antibodies targeting the muscle acetylcholine receptor (AChR) or rarely other proteins (including muscle -specific kinase -MuSK). Myasthenia is usually not considered a paraneoplastic disease, with the exception of thymoma in about 10% cases.

跨章引用 同一概念在其他章节另有编码

• Lambert-Eaton综合征8C62
• 重症肌无力8C60

索引词 可用于检索该条目的同义词与别名

• 副肿瘤性或自身免疫性神经肌肉接头疾病