02OBrachio-cervical inflammatory myopathy: evidence for a distinct form of inflammatory muscle disease

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-09-01 DOI:10.1016/j.nmd.2025.105458

F. Kleefeld , E. Gallardo Vigo , J. Teran Gamboa , A. Funke , A. Roos , A. Mensch , J. Gehrig , T. Ruck , A. Mossakowski , L. Llansó , S. Bortolani , E. Torchia , M. Casal-Dominguez , I. Pinal-Fernandez , A. Mammen , G. Tasca , C. Preuße , W. Stenzel

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Abstract

Brachio-cervical inflammatory myopathy (BCIM) is a rare and underrecognized type of idiopathic inflammatory myopathy (IIM). It stands out due to its unusual pattern of muscle weakness, affecting the upper arms and neck, often in an asymmetric and severe way. BCIM frequently overlaps with other autoimmune diseases, such as scleroderma, but its exact biological basis has remained unclear. As a result, it’s still debated whether BCIM represents a unique disease or a variation of other known IIM subtypes. Diagnosing BCIM can be challenging, as its clinical presentation can resemble that of genetic muscle disorders, e.g., facioscapulohumeral muscular dystrophy (FSHD). This underlines the importance of thorough diagnostic work-up, including muscle biopsy and molecular studies, to avoid misdiagnosis. In this study, we examined 23 patients with BCIM and available muscle biopsies. Most patients (87%) were women and showed pronounced and asymmetric upper limb weakness. Other frequent signs included dropped head, dysphagia, scapular winging, and facial involvement. Interestingly, more than half (56%) also showed signs of proximal lower limb weakness. While many patients initially responded to immunosuppressive therapy, most experienced only partial recovery, and progressive muscle fibrosis with persistent axial weakness was common. Polyclonal antibody production was found in 80% of patients, including AChR antibodies in the absence of clinical myasthenia. Integrating clinical, histopathological, transcriptomic, and proteomic data, we observed a consistent pattern of B cell-driven inflammation with local antibody production, alongside clear evidence of mitochondrial dysfunction, which is at variance with other types of IIM. Together, these findings support the hypothesis that BCIM is a distinct form of inflammatory myopathy. Improved recognition of its clinical and molecular features is essential for accurate diagnosis and may open the door to more tailored treatment approaches, including early B-cell depleting strategies.

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020臂颈炎性肌病：一种独特形式的炎性肌肉疾病的证据

臂颈炎症性肌病是一种罕见且未被充分认识的特发性炎症性肌病（IIM）。由于其不寻常的肌肉无力模式而突出，影响上臂和颈部，通常以不对称和严重的方式出现。BCIM经常与其他自身免疫性疾病重叠，如硬皮病，但其确切的生物学基础尚不清楚。因此，BCIM究竟是一种独特的疾病，还是其他已知IIM亚型的变异，仍然存在争议。BCIM的诊断可能具有挑战性，因为其临床表现可能类似于遗传性肌肉疾病，例如面肩肱肌营养不良症（FSHD）。这强调了彻底的诊断检查的重要性，包括肌肉活检和分子研究，以避免误诊。在这项研究中，我们检查了23例BCIM患者和可用的肌肉活检。大多数患者（87%）为女性，表现出明显的不对称上肢无力。其他常见症状包括头下垂、吞咽困难、肩胛骨翅和面部受累。有趣的是，超过一半（56%）的患者还表现出下肢近端无力的迹象。虽然许多患者最初对免疫抑制治疗有反应，但大多数患者仅部分恢复，并且进行性肌肉纤维化伴持续性轴向无力是常见的。在80%的患者中发现多克隆抗体产生，包括在没有临床肌无力的情况下的AChR抗体。综合临床、组织病理学、转录组学和蛋白质组学数据，我们观察到B细胞驱动的炎症与局部抗体产生的一致模式，以及线粒体功能障碍的明确证据，这与其他类型的IIM不同。总之，这些发现支持了BCIM是炎性肌病的一种独特形式的假设。提高对其临床和分子特征的认识对于准确诊断至关重要，并可能为更有针对性的治疗方法打开大门，包括早期b细胞消耗策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.