第294届ENMC国际研讨会：聚焦散发性晚发型杆状体肌病（SLONM）和轻链（AL）淀粉样肌病的副蛋白血症性肌病的诊断与管理。2026年3月27-29日，荷兰霍夫多普。
294th ENMC international workshop: Diagnosis and management of paraproteinemic myopathies focusing on sporadic late-onset nemaline myopathy (SLONM) and light-chain (AL) amyloid myopathy. 27th -29th March 2026, Hoofddorp, The Netherlands.
文献信息
| PMID | 42731495 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Antonio Lauletta |
| 作者单位 | Neuromuscular and Rare Disease Centre, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant'Andrea Hospital, Rome, Italy. |
| 期刊 | Neuromuscular disorders : NMD |
| SCI 分区 | Q2 |
| IF | 3.2 |
| 研究类型 | 指南共识 · 临床 |
| 所属专科 | 耳科 |
中文摘要
副蛋白血症性肌病是由致病性单克隆蛋白引起的罕见但可能可治疗的疾病，然而由于临床表现非特异性和缺乏标准化诊断方法，诊断常常被延迟。第294届ENMC国际研讨会汇集了来自12个国家的21位专家和两名患者代表，旨在建立其诊断和管理的国际共识。研讨会回顾了关于散发性晚发型杆状体肌病（SLONM）、轻链（AL）淀粉样肌病、伴单克隆丙种球蛋白病和僵硬的空泡性肌病（VAMMGAS）以及硬化性黏液水肿相关肌病的当前证据。临床警示信号包括症状发作年龄≥40岁、亚急性近端和/或轴性无力、肌酸激酶水平正常或轻度升高（VAMMGAS除外）、吞咽困难、体重减轻、全身表现以及对常规免疫治疗反应不佳。建立了SLONM的共识诊断标准和副蛋白血症性肌病的诊断算法。推荐对肌肉活检进行常规刚果红染色，特别是在有单克隆蛋白的患者中。研讨会支持将SLONM-MGUS替换为SLONM-MP，以反映单克隆蛋白的致病作用，并推荐浆细胞导向治疗作为SLONM-MP和AL淀粉样肌病治疗的基石。这些建议为副蛋白血症性肌病的诊断和管理提供了首个国际共识框架，并为未来的合作研究确定了优先事项。
英文摘要
Paraproteinemic myopathies are rare but potentially treatable disorders caused by pathogenic monoclonal proteins, yet diagnosis is often delayed because of nonspecific clinical manifestations and the lack of standardized diagnostic approaches. The 294th ENMC International Workshop convened 21 experts from 12 countries and two patient representatives to establish international consensus on their diagnosis and management. The workshop reviewed current evidence on sporadic late-onset nemaline myopathy (SLONM), light-chain (AL) amyloid myopathy, vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS), and scleromyxedema-associated myopathy. Clinical red flags include age at symptom onset ≥40 years, subacute proximal and/or axial weakness, normal or mildly elevated creatine kinase levels (except in VAMMGAS), dysphagia, weight loss, systemic manifestations, and poor response to conventional immunotherapy. Consensus diagnostic criteria for SLONM and a diagnostic algorithm for paraproteinemic myopathies were established. Routine Congo red staining of muscle biopsies, particularly in patients with monoclonal protein, was recommended. The workshop endorsed replacing SLONM-MGUS with SLONM-MP to reflect the pathogenic role of the monoclonal protein and recommended plasma cell-directed therapy as the cornerstone of treatment for SLONM-MP and AL amyloid myopathy. These recommendations provide the first international consensus framework for the diagnosis and management of paraproteinemic myopathies and establish priorities for future collaborative research.