1例Merosin蛋白缺陷型先天性肌营养不良患儿的康复管理  

Rehabilitation management of a child with Merosin-deficient congenital muscular dystrophy

作　　者：华晶[1] 芮洪新 窦淑娟[1] 张光宝[1] 池霞[1] 童梅玲[1] 张敏[1] HUA Jing;RUI Hongxin;DOU Shujuan;ZHANG Guangbao;CHI Xia;TONG Meiling;ZHANG Min(Department of Child Health Care,Women’s Hospital of Nanjing Medical University,Nanjing 210004,Jiangsu Province,China)

机构地区：[1]南京医科大学附属妇产医院儿童保健科,中国南京210004

出　　处：《教育生物学杂志》2022年第4期323-327,共5页Journal of Bio-education

基　　金：南京医科大学科技发展基金(NMUB2020116)。

摘　　要：目的探讨Merosin蛋白缺失型先天性肌营养不良的康复管理及治疗。方法对1例Merosin缺失型先天性肌营养不良患儿的临床特征及相关评定结果进行全面分析,制定多学科团队协作的康复管理方案,包括物理治疗、作业治疗、辅助器具与环境改造、呼吸训练等,综合康复后观察疗效。结果经过全面的康复管理,患儿的精细运动、适应性、语言、个人-社交能力均有不同程度的提高,大运动能力进展缓慢,除挛缩外暂未出现明显的进行性功能障碍和并发症。结论对Merosin蛋白缺陷型先天性肌营养不良的患儿实施多学科团队协作的康复管理及个性化的治疗方案,有利于减少相关并发症的发生,提高患儿的生存质量。Objective To report the clinical features and diagnosis of a case of Merosin-deficient congenital muscular dystrophy,and explore the rehabilitation management of this case.Methods A comprehensive analysis of the clinical characteristics and related assessment results of a child with Merosin-deficient congenital muscular dystrophy was carried out.A multidisciplinary team-based rehabilitation management plan was formulated,including physical therapy,occupational therapy,assistive devices and environmental modification,and breathing training.Clinical observations were conducted after comprehensive rehabilitation.Results After rehabilitation management,there were significant ameliorations in fine motor,adaptability,language,and personal-social skills.The progress of motor function was slow,and there were no obvious progressive dysfunctions and complications except for contractures.Conclusion Rehabilitation management formulated by multi-disciplinary team,as well as individual rehabilitation techniques can help delay the complications of children with Merosin-deficient congenital muscular dystrophy and improve the equality of daily life.

关 键 词：先天性肌营养不良 Merosin蛋白缺陷型 康复管理 多学科团队 

分 类 号：R746.2[医药卫生—神经病学与精神病学]