重症肌无力或某些特指的肌肉神经接头疾患

定义

神经肌肉接头疾病是由于参与神经肌肉传递的一个或多个关键蛋白受损、功能障碍或缺失所致。最常见的病理机制是抗体介导的损伤或离子通道/受体的下调，导致重症肌无力、Lambert-Eaton 肌无力综合征和获得性神经性肌强直（即 Isaac 综合征）。第二类重要疾病是先天性肌无力综合征，由神经肌肉接头蛋白的基因突变引起。 重症肌无力是最常见的累及神经肌肉接头的自身免疫性疾病，其特征为无痛性、易疲劳性肌无力。该病由针对神经肌肉接头蛋白的自身抗体引起，靶点通常为烟碱型乙酰胆碱受体（AChR）或肌肉特异性酪氨酸激酶（MuSK）。神经肌肉接头蛋白的突变还可导致先天性肌无力综合征。其他抗体介导的神经肌肉接头疾病还包括 Lambert-Eaton 肌无力综合征和神经性肌强直。

Neuromuscular junction disorders result from damage, malfunction or absence of one or more key proteins involved in neuromuscular transmission. The most common pathology is antibody-mediated lesion or down regulation of ion channels or receptors, resulting in myasthenia gravis, Lambert-Eaton myasthenic syndrome, and acquired neuromyotonia (or Isaac’s syndrome). A second important group of disorders are the congenital myasthenic syndromes caused by mutations in neuromuscular junction proteins. Myasthenia gravis is the most common autoimmune disease affecting the neuromuscular junction and is characterised by painless fatigable muscle weakness. It is caused by autoantibodies against neuromuscular junction proteins, either the nicotinic acetylcholine receptor (AChR) or the muscle specific tyrosine kinase (MuSK). Mutations in neuromuscular junction proteins cause congenital myasthenic syndromes. Other antibodies mediated conditions affecting the neuromuscular junction, including Lambert Eaton myasthenic syndrome and neuromyotonia.

跨章引用 同一概念在其他章节另有编码

• 肉毒中毒1A11
• 毒性引起的神经肌肉连接疾病NE61

子条目 共 5 条

• 8C60重症肌无力3
• 8C61先天性肌无力综合征
• 8C62Lambert-Eaton综合征
• 8C6Y其他特指的重症肌无力或某些特指的神经肌肉接头疾患
• 8C6Z未特指的重症肌无力或某些特指的神经肌肉接头疾患