Romero Brigette, Robinson Karyn G, Batish Mona, Akins Robert E
Department of Medical and Molecular Sciences, University of Delaware, Newark, DE 19711, USA.
Center for Pediatric Clinical Research and Development, Nemours Children's Health System, Wilmington, DE 19803, USA.
J Pers Med. 2021 Nov 12;11(11):1187. doi: 10.3390/jpm11111187.
Cerebral palsy is a set of common, severe, motor disabilities categorized by a static, nondegenerative encephalopathy arising in the developing brain and associated with deficits in movement, posture, and activity. Spastic CP, which is the most common type, involves high muscle tone and is associated with altered muscle function including poor muscle growth and contracture, increased extracellular matrix deposition, microanatomic disruption, musculoskeletal deformities, weakness, and difficult movement control. These muscle-related manifestations of CP are major causes of progressive debilitation and frequently require intensive surgical and therapeutic intervention to control. Current clinical approaches involve sophisticated consideration of biomechanics, radiologic assessments, and movement analyses, but outcomes remain difficult to predict. There is a need for more precise and personalized approaches involving omics technologies, data science, and advanced analytics. An improved understanding of muscle involvement in spastic CP is needed. Unfortunately, the fundamental mechanisms and molecular pathways contributing to altered muscle function in spastic CP are only partially understood. In this review, we outline evidence supporting the emerging hypothesis that epigenetic phenomena play significant roles in musculoskeletal manifestations of CP.
脑瘫是一组常见的严重运动障碍，其特征是发育中的大脑出现静态、非退行性脑病，并伴有运动、姿势和活动方面的缺陷。痉挛型脑瘫是最常见的类型，涉及高肌张力，并与肌肉功能改变有关，包括肌肉生长不良和挛缩、细胞外基质沉积增加、微观解剖结构破坏、肌肉骨骼畸形、无力以及运动控制困难。脑瘫这些与肌肉相关的表现是导致渐进性衰弱的主要原因，并且经常需要强化的手术和治疗干预来控制。目前的临床方法涉及对生物力学、放射学评估和运动分析的复杂考量，但结果仍然难以预测。需要采用更精确和个性化的方法，包括组学技术、数据科学和先进分析方法。需要更好地了解痉挛型脑瘫中肌肉受累的情况。不幸的是，导致痉挛型脑瘫肌肉功能改变的基本机制和分子途径仅得到部分理解。在本综述中，我们概述了支持新出现的假说的证据，即表观遗传现象在脑瘫的肌肉骨骼表现中起重要作用。
