Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurologyand Neurosurgery, London, UK.
Clin Exp Rheumatol. 2023 Mar;41(2):340-347. doi: 10.55563/clinexprheumatol/jq7zxd. Epub 2023 Mar 1.
Sporadic inclusion body myositis (IBM) is the most common acquired myopathy in those aged above 50. It is classically heralded by weakness in the long finger flexors and quadriceps. The aim of this article is to describe five atypical cases of IBM, outlining two potential emerging clinical subsets of the disease.
We reviewed relevant clinical documentation and pertinent investigations for five patients with IBM.
The first phenotype we describe is young-onset IBM in two patients who had symptoms since their early thirties. The literature supports that IBM can rarely present in this age range or younger. We describe a second phenotype in three middle-aged women who developed early bilateral facial weakness at presentation in tandem with dysphagia and bulbar impairment followed by respiratory failure requiring non-invasive ventilation (NIV). Within this group, two patients were noted to have macroglossia, another possible rare feature of IBM.
Despite the classical phenotype described within the literature IBM can present in a heterogenous fashion. It is important to recognise IBM in younger patients and investigate for specific associations. The described pattern of facial diplegia, severe dysphagia, bulbar dysfunction and respiratory failure in female IBM patients requires further characterisation. Patients with this clinical pattern may require more complex and supportive management. Macroglossia is a potentially under recognised feature of IBM. The presence of macroglossia in IBM warrants further study, as its presence may lead to unnecessary investigations and delay diagnosis.
散发性包涵体肌炎（IBM）是 50 岁以上人群中最常见的获得性肌病。它通常以长指屈肌和股四头肌无力为特征。本文旨在描述 5 例不典型 IBM 病例，概述该疾病两种潜在的新临床亚型。
我们回顾了 5 例 IBM 患者的相关临床资料和相关检查。
我们描述的第一个表型是两名患者的早发性 IBM，他们从三十多岁就出现了症状。文献表明 IBM 很少在此年龄范围内或更年轻时出现。我们描述了第二种表型，即三名中年女性在出现时同时出现双侧面肌无力、吞咽困难和延髓功能障碍，随后发生呼吸衰竭，需要无创通气（NIV）。在这一组中，有两名患者被发现有巨舌症，这也是 IBM 的另一种罕见特征。
尽管文献中描述了经典表型，但 IBM 可能以不同的形式出现。在年轻患者中识别 IBM 并调查其特定关联非常重要。描述的女性 IBM 患者的面瘫、严重吞咽困难、延髓功能障碍和呼吸衰竭模式需要进一步的特征描述。此类患者可能需要更复杂和支持性的管理。巨舌症是 IBM 的一个潜在未被认识到的特征。IBM 中存在巨舌症需要进一步研究，因为其存在可能导致不必要的检查和延误诊断。
