表型可能预测面肩肱型肌营养不良的临床病程。
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy.
机构信息
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
Department of Clinical and Experimental Medicine, University of Pisa, via Roma 67 56126, Pisa, Italy.
出版信息
Muscle Nerve. 2019 Jun;59(6):711-713. doi: 10.1002/mus.26474. Epub 2019 Apr 4.
INTRODUCTION
The correct phenotypic classification of patients with facioscapulohumeral muscular dystrophy (FSHD) is crucial for directing genetic diagnosis and for the definition of outcome measures in clinical trials.
METHODS
Our objective was to ascertain the utility of the Comprehensive Clinical Evaluation Form (CCEF), the clinical classification proposed by the Italian Clinical Network for FSHD, in an independent FSHD patient population from the UK FSHD Patient Registry. We subdivided the patients into group 1, classic FSHD phenotype/category A of CCEF, and group 2, facial sparing phenotypes/category B1 of CCEF.
RESULTS
Among 642 patients with FSHD1, 68.1% reported facial and shoulder weakness, whereas 24.1% reported shoulder weakness without facial impairment. The phenotype in group 2 was milder, with a higher mean age at onset (P < 0.0001) and less severe motor disability.
DISCUSSION
Patients with different FSHD phenotypes may have different disease courses. Muscle Nerve 59:711-713, 2019.
简介
面肩肱型肌营养不良症（FSHD）患者的正确表型分类对于指导基因诊断和临床试验中结局指标的定义至关重要。
方法
我们的目的是确定综合临床评估表（CCEF）的实用性，CCEF 是意大利 FSHD 临床网络提出的临床分类，应用于来自英国 FSHD 患者登记处的独立 FSHD 患者人群。我们将患者分为 1 组，即经典 FSHD 表型/CCEF 的 A 类，和 2 组，即 CCEF 的 B1 型面部分娩表型。
结果
在 642 例 FSHD1 患者中，68.1%报告面部和肩部无力，而 24.1%报告肩部无力而无面部损伤。2 组的表型更轻，发病年龄更高（P<0.0001），运动障碍程度较轻。
讨论
不同 FSHD 表型的患者可能有不同的病程。肌肉神经 59：711-713，2019。
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