van der Sluijs B M, Lassche S, Knuiman G J, Kusters B, Heerschap A, Hopman M, Schreuder T H, van Engelen B G M, Voermans N C
Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Neuromuscul Disord. 2017 Dec;27(12):1099-1105. doi: 10.1016/j.nmd.2017.09.010. Epub 2017 Sep 28.
Although limb girdle weakness is not part of the major diagnostic criteria of oculopharyngeal muscular dystrophy (OPMD), it has frequently been observed in the Dutch and other OPMD cohorts. In the Dutch cohort, this might be related to the relatively old age or the severity of the genetic defect. This patient-control study (14 OPMD patients and 12 controls) investigated the involvement of limb girdle muscles with a multidimensional approach in early OPMD. We assessed functional abilities, disease impact, physical activity, muscle strength, histopathology and fatty infiltration using questionnaires, actometer, functional tests, manual and quantitative muscle testing, muscle biopsy and muscle MRI. The study showed that involvement of pelvic girdle and proximal leg can be a relatively early feature of OPMD, resulting in impaired daily life activities. The fat fraction of the hip adductors and hamstrings was significantly higher in OPMD patients than in controls. Future studies should include assessment of hip flexors, hip adductors and hamstrings (muscle strength measurements and MRI), functional tests and questionnaires. These findings are important in future diagnostics, management and for the design of outcome measures in trials.
虽然肢体带肌无力并非眼咽型肌营养不良症（OPMD）主要诊断标准的一部分，但在荷兰及其他OPMD队列中经常观察到这种情况。在荷兰队列中，这可能与相对高龄或基因缺陷的严重程度有关。这项病例对照研究（14例OPMD患者和12名对照）采用多维度方法调查了早期OPMD患者肢体带肌的受累情况。我们使用问卷、计步器、功能测试、手动和定量肌肉测试、肌肉活检及肌肉磁共振成像评估了功能能力、疾病影响、身体活动、肌肉力量、组织病理学和脂肪浸润情况。研究表明，骨盆带和大腿近端受累可能是OPMD相对早期的特征，会导致日常生活活动受损。OPMD患者髋内收肌和腘绳肌的脂肪分数显著高于对照组。未来的研究应包括对髋屈肌、髋内收肌和腘绳肌的评估（肌肉力量测量和磁共振成像）、功能测试及问卷。这些发现对未来的诊断、管理以及试验结局指标的设计具有重要意义。
