Amyloidosis refers to an etiologically heterogeneous group of protein misfolding diseases, pathologically characterized by extracellular amyloid fibrils producing congophillic amorphous deposits in organs and tissues, which may lead to severe organ dysfunction and mortality. Clinical presentations vary and are often nonspecific, depending on what organs or tissues are affected. In systemic amyloidosis, the peripheral nervous system is commonly affected, whereas the skeletal muscles are only rarely involved. Immunoglobulin light chain (AL) amyloidosis and hereditary transthyretin (ATTRv) amyloidosis are the most frequent types of systemic amyloidosis involving the neuromuscular system. Localized amyloidosis can occur in skeletal muscle, so-called isolated amyloid myopathy. Amyloid neuropathy typically involves small myelinated and unmyelinated sensory and autonomic nerve fibers early in the course of the disease, followed by large myelinated fiber sensory and motor deficits. The relentlessly progressive nature with motor, painful sensory and severe autonomic dysfunction, profound weight loss, and systemic features are distinct characteristics of amyloid neuropathy. Amyloid myopathy presentation differs between systemic amyloidosis and isolated amyloid myopathy. Long-standing symptoms, distal predominant myopathy, markedly elevated creatine kinase level, and lack of peripheral neuropathy or systemic features are highly suggestive of isolated amyloid myopathy. In ATTR and AL amyloidosis, early treatment correlates with favorable outcomes. Therefore, awareness of these disorders and active screening for amyloidosis in patients with neuropathy or myopathy are crucial in detecting these patients in the everyday practice of neuromuscular medicine. Herein, we review the clinical manifestations of neuromuscular amyloidosis and provide a diagnostic approach to this disorder.

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神经肌肉淀粉样变性：揭开伪装大师的面纱

淀粉样变性是指一组病因异质的蛋白质错误折叠疾病，其病理特征是细胞外淀粉样原纤维在器官和组织中产生嗜刚果红的无定形沉积物，可能导致严重的器官功能障碍和死亡。临床表现各不相同，通常是非特异性的，这取决于受影响的器官或组织。在系统性淀粉样变性中，外周神经系统通常受到影响，而骨骼肌很少受到影响。免疫球蛋白轻链 (AL) 淀粉样变性和遗传性转甲状腺素蛋白 (ATTRv) 淀粉样变性是最常见的累及神经肌肉系统的系统性淀粉样变性。局部淀粉样变性可发生在骨骼肌中，即所谓的孤立性淀粉样蛋白肌病。淀粉样神经病通常在病程早期涉及小的有髓和无髓感觉和自主神经纤维，随后是大的有髓纤维感觉和运动缺陷。具有运动、疼痛感觉和严重自主神经功能障碍、严重体重减轻和全身特征的无情进展性质是淀粉样神经病的明显特征。淀粉样蛋白肌病的表现在系统性淀粉样变性和孤立性淀粉样蛋白肌病之间有所不同。长期症状、远端主要肌病、肌酸激酶水平显着升高以及缺乏周围神经病变或全身特征高度提示孤立性淀粉样肌病。在 ATTR 和 AL 淀粉样变性中，早期治疗与有利结果相关。所以，在神经肌肉医学的日常实践中，对这些疾病的认识和对神经病或肌病患者淀粉样变性的主动筛查对于检测这些患者至关重要。在此，我们回顾了神经肌肉淀粉样变性的临床表现，并提供了对该疾病的诊断方法。