Chen Nan, Shen Nan, Yu Yongguo, Chen Chen, Li Xin, Liang Juping, Yang Yuqi, Du Qing
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.
Am J Transl Res. 2018 Nov 15;10(11):3827-3832. eCollection 2018.
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.
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。