Suppr超能文献

精准医学制定的康复治疗后MYH2缺乏所致肌病的临床缓解:一例报告

Clinical remission of myopathy with MYH2 deficiency after precision medicine-developed rehabilitation: a case report.

作者信息

Chen Nan, Shen Nan, Yu Yongguo, Chen Chen, Li Xin, Liang Juping, Yang Yuqi, Du Qing

机构信息

Department of Rehabilitation Medicine, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University Shanghai 200092, China.

Department of Rehabilitation Medicine, Chongming Branch of Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University Shanghai 202150, China.

出版信息

Am J Transl Res. 2018 Nov 15;10(11):3827-3832. eCollection 2018.

Abstract

Here, we describe the case of a motor developmental disorder associated with intellectual disability accompanied by mutations (c.2266G>A and c.4258C>T) in a female child in China. Her initial detailed functional rehabilitation evaluation gauged motor skills, balance, verbal language, and daily living skills. A general therapy plan was then established to enhance balance, muscle strength in the lower extremities, walking, gross and fine motor function, and family education. Clinicians and therapists later modified her rehabilitation regimen after her mutations were identified by adding specific mobility and endurance exercise to the original plan. The clinical remission of myopathy with missense mutations was observed in the patient after this targeted rehabilitation, indicating that precision therapy is very effective for developing a suitable rehabilitation program for patients with unexplained myopathies.

摘要

在此,我们描述了中国一名患有智力残疾并伴有突变(c.2266G>A和c.4258C>T)的女童的运动发育障碍病例。她最初的详细功能康复评估包括运动技能、平衡能力、语言能力和日常生活技能。随后制定了一个综合治疗计划,以增强平衡能力、下肢肌肉力量、行走能力、粗大和精细运动功能以及家庭教育。在通过基因检测确定她的突变后,临床医生和治疗师对她的康复方案进行了调整,在原计划中增加了特定的移动性和耐力训练。经过这种有针对性的康复治疗后,该患者出现了错义突变性肌病的临床缓解,这表明精准治疗对于为不明原因的肌病患者制定合适的康复计划非常有效。

相似文献

2
Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.纯合隐性 MYH2 突变模拟显性 MYH2 相关肌病。
Neuromuscul Disord. 2018 Aug;28(8):675-679. doi: 10.1016/j.nmd.2018.05.006. Epub 2018 May 21.
9
Hereditary myosin myopathies.遗传性肌球蛋白肌病
Neuromuscul Disord. 2007 May;17(5):355-67. doi: 10.1016/j.nmd.2007.02.008. Epub 2007 Apr 16.

本文引用的文献

5
Physical rehabilitation for critical illness myopathy and neuropathy.危重病性肌病和神经病的物理康复
Cochrane Database Syst Rev. 2015 Mar 4;2015(3):CD010942. doi: 10.1002/14651858.CD010942.pub2.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验