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◆ Neuromuscular disorders : NMD2026-08-12

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.

Antonio Lauletta, Eleonora Torchia, Jana Marie Schwarz, Matteo Garibaldi, Felix Kleefeld, Pascal Laforet, Teerin Liewluck, 294th ENMC workshop participants

原始摘要(英文原文)· Original abstract
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.
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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. — 科研速览 Science Skim