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

American Journal of Translational Research

Chen Chen¹  Nan Shen²  Nan Chen³  Yongguo Yu⁴  Juping Liang⁵  Xin Li⁶ 

[1] Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, 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;Department of Rehabilitation Medicine, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China;Key Laboratory of Exercise and Health Sciences, Ministry of Education, Shanghai University of Sport, Shanghai 200438, China;School of Nursing and Health Management, Shanghai University of Medicine and Health Sciences, Shanghai 201318, China;Shanghai University of Sport, Shanghai 200438, China

关键词: MYH2;    myopathy;    rehabilitation treatment;    precision medicine;   

DOI  :  

学科分类：医学（综合）

来源: e-Century Publishing Corporation

【 摘 要 】

Here, we describe the case of a motor developmental disorder associated with intellectual disability accompanied by MYH2 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 MYH2 mutations were identified by adding specific mobility and endurance exercise to the original plan. The clinical remission of myopathy with MYH2 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.

【 授权许可】

CC BY-NC