Castori Marco, Tinkle Brad, Levy Howard, Grahame Rodney, Malfait Fransiska, Hakim Alan
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):148-157. doi: 10.1002/ajmg.c.31539. Epub 2017 Feb 1.
In the last decade, growing attention has been placed on joint hypermobility and related disorders. The new nosology for Ehlers-Danlos syndrome (EDS), the best-known and probably the most common of the disorders featuring joint hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS hypermobility type and joint hypermobility syndrome. Joint hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non-medical disciplines. In this paper, the terminology of joint hypermobility and related disorders is summarized. Different types of joint hypermobility, its secondary musculoskeletal manifestations and a simplified categorization of genetic syndromes featuring joint hypermobility are presented. The concept of a spectrum of pathogenetically related manifestations of joint hypermobility intersecting the categories of pleiotropic syndromes with joint hypermobility is introduced. A group of hypermobility spectrum disorders is proposed as diagnostic labels for patients with symptomatic joint hypermobility but not corresponding to any other syndromes with joint hypermobility. © 2017 Wiley Periodicals, Inc.
在过去十年中,人们对关节活动过度及相关疾病的关注日益增加。埃勒斯-当洛综合征(EDS)的新分类法,是关节活动过度相关疾病中最广为人知且可能最为常见的一种,它识别出了20多种不同类型的EDS,并强调需要一套单一的标准来替代先前针对重叠的EDS活动过度型和关节活动过度综合征的标准。关节活动过度是许多其他遗传性和后天性疾病中常见的特征,这一发现正吸引着越来越多医学和非医学学科的关注。本文总结了关节活动过度及相关疾病的术语。介绍了不同类型的关节活动过度、其继发性肌肉骨骼表现以及以关节活动过度为特征的遗传综合征的简化分类。引入了关节活动过度的一系列发病机制相关表现与具有关节活动过度的多效性综合征类别相交的概念。提出了一组活动过度谱系障碍,作为有症状的关节活动过度但不符合任何其他关节活动过度综合征患者的诊断标签。© 2017威利期刊公司