From the Department of Neurology (V.P., P.H.), Kuopio University Hospital; Tampere Neuromuscular Center (J.P., M.J., A.V., B.U.); Tampere University Hospital (J.P.); Tampere University (J.P.); Neurology (M.J.), Clinical Medicine, University of Turku; Neurocenter (M.J.), Turku University Hospital; Folkhälsan Research Center (A.V., B.U.), Helsinki; Medicum (A.V., B.U.), University of Helsinki; Fimlab Laboratories (A.V.), Tampere; Department of Pathology (T.R.), Kuopio University Hospital; and Unit of Pathology (T.R.), Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Neurology. 2023 Oct 31;101(18):e1779-e1786. doi: 10.1212/WNL.0000000000207639. Epub 2023 Sep 7.
This study aimed to characterize the phenotype of a novel myalgic myopathy encountered in a Finnish family.
Four symptomatic and 3 asymptomatic individuals from 2 generations underwent clinical, neurophysiologic, imaging, and muscle biopsy examinations. Targeted sequencing of all known myopathy genes was performed.
A very rare gene variant c.2893G>C (p.E965Q) was identified in the family. The symptomatic patients presented with exercise-induced myalgia, cramping, muscle stiffness, and fatigue and eventually developed muscle weakness. Examinations revealed mild ptosis and unusual muscle hypertrophy in the upper limbs. In the most advanced disease stage, muscle weakness and muscle atrophy of the limbs were evident. In some patients, muscle biopsy showed mild myopathic findings and creatine kinase levels were slightly elevated.
Myalgia is a very common symptom affecting quality of life. Widespread myalgia may be confused with other myalgic syndromes such as fibromyalgia. In this study, we show that variants in gene may be one cause of severe exercise-induced myalgia.
本研究旨在描述在一个芬兰家族中发现的一种新型肌痛性脑脊髓炎的表型特征。
对来自 2 代的 4 名有症状和 3 名无症状个体进行了临床、神经生理学、影像学和肌肉活检检查。对所有已知的肌病基因进行了靶向测序。
在该家族中发现了一种非常罕见的 基因变异 c.2893G>C(p.E965Q)。有症状的患者表现为运动诱导的肌肉疼痛、痉挛、肌肉僵硬和疲劳，最终发展为肌肉无力。检查发现上肢有轻微的上睑下垂和不寻常的肌肉肥大。在疾病的最晚期，四肢的肌肉无力和肌肉萎缩明显。在一些患者中，肌肉活检显示轻度肌病表现，肌酸激酶水平略有升高。
肌肉疼痛是一种非常常见的影响生活质量的症状。广泛的肌肉疼痛可能与其他肌痛性综合征（如纤维肌痛）相混淆。在这项研究中，我们表明 基因的变异可能是严重运动诱导性肌肉疼痛的一个原因。
