Sanchez-Casado Lucia, Evangelista Teresinha, Nectoux Juliette, Verebi Camille, Stojkovic Tanya
Service de neuromyologie, Institut de Myologie, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.
Unité de Morphologie Neuromusculaire, Institut de Myologie, Sorbonne Université, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Neuromuscul Disord. 2025 Jan;46:105269. doi: 10.1016/j.nmd.2024.105269. Epub 2024 Dec 14.
Dysferlinopathies, caused by mutations in the dysferlin gene (DYSF) encoding the dysferlin protein, are a clinically heterogeneous group of autosomal recessive muscular dystrophies whose phenotypic spectrum is still evolving. Here we described a patient reporting diffuse muscular pain non related to physical exercise, mimicking fibromyalgic syndrome. Electroneuromyography was normal. Magnetic resonance imaging (MRI) of skeletal muscles found fatty replacement on T1-weighted and hyperintensity on T2-weighted and short tau inversion recovery (STIR) sequences in the adductor magnus, the vastus medialis, the gastrocnemius lateralis and medialis. A significant decrease in dysferlin expression was observed by immunohistochemistry in the muscle biopsy from the deltoid, which was confirmed by Western blot (WB) analysis. Genetic testing confirmed the diagnosis of dysferlinopathy with the presence of two heterozygous variants. We report a new clinical presentation with confounding features for dysferlinopathy, posing a diagnostic dilemma and widening the clinical spectrum of dysferlin myopathies.
肌膜蛋白病是由编码肌膜蛋白的肌膜蛋白基因（DYSF）突变引起的，是一组临床异质性的常染色体隐性遗传性肌肉萎缩症，其表型谱仍在不断演变。在此，我们描述了一名患者，该患者自述存在与体育锻炼无关的弥漫性肌肉疼痛，类似纤维肌痛综合征。肌电图检查结果正常。骨骼肌的磁共振成像（MRI）显示，大收肌、股内侧肌、腓肠肌外侧头和内侧头在T1加权像上出现脂肪替代，在T2加权像和短tau反转恢复（STIR）序列上出现高信号。通过免疫组织化学方法观察到三角肌肌肉活检标本中肌膜蛋白表达显著降低，这一结果通过蛋白质免疫印迹（WB）分析得到证实。基因检测通过两个杂合变异的存在确诊了肌膜蛋白病。我们报告了一种具有混淆特征的肌膜蛋白病新临床表现，这带来了诊断难题，并拓宽了肌膜蛋白肌病的临床谱。
