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先天性多发性关节挛缩症患儿的肌肉和关节功能:范围综述。

Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review.

机构信息

Shriners Hospital for Children-Canada, Montreal, Québec, Canada.

Department of Surgery, Faculty of Medicine, McGill University, Montreal, Québec, Canada.

出版信息

Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):410-426. doi: 10.1002/ajmg.c.31726. Epub 2019 Jul 27.

Abstract

Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures present in two or more body areas. Lack of fetal movement is the underlying cause of AMC, which can lead to abnormal connective tissue surrounding the joint resulting in stiffness and muscle atrophy. Treatment aims at improving function and mobility through surgical and/or conservative interventions. A scoping review was conducted to explore the existing knowledge of the evaluation and treatment of muscle and joint function in children with AMC. Three search engines were included and identified 1,271 articles. Eighty-seven studies met the selection criteria and were included in this review. All included studies focused on joints, 30 of which also assessed the muscle. Assessment most often included the position of the contractures (n = 72), as well as range of motion (n = 66). Interventions to improve muscle and joint function were reported in 82 of the 87 papers and included surgery (n = 70) and conservative interventions (n = 74) with bony surgery (i.e., osteotomy) the most common surgery and rehabilitation the most common conservative intervention. Recurrences of contractures were mentioned in 46 of the 68 studies providing a follow-up. Future studies should use validated measures to assess muscle and joint function, and conservative interventions should be described in greater detail and to include a longer follow-up.

摘要

先天性多发性关节挛缩症(AMC)的特征是两个或多个身体部位存在先天性关节挛缩。胎儿运动不足是 AMC 的根本原因,这可能导致关节周围的结缔组织异常,导致僵硬和肌肉萎缩。治疗旨在通过手术和/或保守干预来改善功能和活动能力。进行了范围审查,以探讨现有的 AMC 患儿肌肉和关节功能评估和治疗知识。纳入了三个搜索引擎,共确定了 1271 篇文章。87 项研究符合选择标准并纳入本综述。所有纳入的研究都集中在关节上,其中 30 项研究还评估了肌肉。评估最常包括挛缩的位置(n = 72),以及运动范围(n = 66)。改善肌肉和关节功能的干预措施在 87 篇论文中的 82 篇中有所报道,包括手术(n = 70)和保守干预(n = 74),其中最常见的手术是骨手术(即截骨术),最常见的保守干预是康复。46 项提供随访的研究中提到了挛缩的复发。未来的研究应使用经过验证的措施来评估肌肉和关节功能,并且应更详细地描述保守干预措施并包括更长的随访。

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