The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada.
Faculty of Science, University of Ottawa, Ottawa, ON K1N 9B4, Canada.
Neuromuscul Disord. 2023 Nov;33(11):824-834. doi: 10.1016/j.nmd.2023.09.010. Epub 2023 Oct 6.
Oculopharyngeal muscular dystrophy (OPMD) is a rare, primarily autosomal dominant, late onset muscular dystrophy commonly presenting with ptosis, dysphagia, and subsequent weakness of proximal muscles. Although OPMD diagnosis can be confirmed with high confidence by genetic testing, the slow progression of OPMD poses a significant challenge to clinical monitoring and a barrier to assessing the efficacy of treatments during clinical trials. Accordingly, there is a pressing need for more sensitive measures of OPMD progression, particularly those which do not require a muscle biopsy. This review provides an overview of progress in OPMD biomarkers from clinical assessment, quantitative imaging, histological assessments, and genomics, as well as hypothesis-generating "omics" approaches. The ongoing search for biomarkers relevant to OPMD progression needs an integrative, longitudinal approach combining validated and experimental approaches which may include clinical, imaging, demographic, and biochemical assessment methods. A multi-omics approach to biochemical biomarker discovery could help provide context for differences found between individuals with varying levels of disease activity and provide insight into pathomechanisms and prognosis of OPMD.
眼咽型肌营养不良症（OPMD）是一种罕见的、主要呈常染色体显性遗传、发病较晚的肌肉疾病，常见的表现为眼睑下垂、吞咽困难，随后出现近端肌肉无力。尽管基因检测可以高度确定 OPMD 的诊断，但 OPMD 的缓慢进展给临床监测带来了重大挑战，也阻碍了临床试验中治疗效果的评估。因此，迫切需要更敏感的 OPMD 进展衡量指标，特别是那些不需要肌肉活检的指标。本综述概述了 OPMD 生物标志物在临床评估、定量成像、组织学评估和基因组学方面的进展，以及产生假说的“组学”方法。正在进行的寻找与 OPMD 进展相关的生物标志物需要采用整合的、纵向的方法，结合验证和实验方法，其中可能包括临床、影像学、人口统计学和生化评估方法。生物化学标志物发现的多组学方法有助于为不同疾病活动水平的个体之间发现的差异提供背景，并深入了解 OPMD 的发病机制和预后。
