Abstract:

Objective: To analyze the characteristics of motor function in children with different types of hereditary neuromuscular disease (HNMD). Methods: A total of 61 children with HNMD admitted to Peking University First Hospital from January 2018 to January 2024 were enrolled. Manual Muscle Testing was used to evaluate the muscle strength of the limbs, and the percentage of limb muscle strength was subsequently calculated. The Motor Function Measure (MFM) was used to evaluate the overall motor function, the Brooke grade and the Vignos grade were respectively used to assess the motor function status of the upper and lower limbs. Pearson correlation analysis and partial correlation analysis were used to explore the relationships between the MFM total score and domain scores and body mass index (BMI), the percentage of limb muscle strength, Brooke grade and Vignos grade. Results: A total of 61 cases of children included 18 of congenital muscular dystrophy (CMD group, 29.51%), 17 of spinal muscular atrophy (SMA group, 27.87%), 15 of congenital myopathy (CM group, 24.59%), and 11 of Emery-Dreifuss muscular dystrophy (EDMD group, 18.03%). There were statistically significant differences in the percentage of limb muscle strength (F = 23.749, P = 0.000), MFM total score (F = 17.445, P = 0.000), D1 domain score (F = 18.671, P = 0.000), D2 domain score (F = 10.202, P = 0.017), Brooke grade (F = 9.313, P = 0.025) and Vignos grade (F = 22.967, P = 0.000) among the 4 groups. Correlation analysis showed that the MFM total score was positively correlated with the percentage of limb muscle strength (r = 0.528, P = 0.000), and negatively correlated with Brooke grade (r =-0.607, P = 0.000) and Vignos grade (r =-0.511, P = 0.000); D1 domain score was positively correlated with the percentage of limb muscle strength (r = 0.303, P = 0.020), and negatively correlated with Vignos grade (r =-0.555, P = 0.000); D2 domain score was positively correlated with the percentage of limb muscle strength (r = 0.332, P = 0.010), and negatively correlated with Brooke grade (r =-0.513, P = 0.000); D3 domain score was negatively correlated with Brooke grade (r =-0.469, P = 0.000). Conclusions: The characteristics of motor function in children with different types of HNMD vary greatly. The specific MFM can assist evaluating the disease severity and analyzing the differences of motor function in children with different types of HNMD.

Key words: Neuromuscular diseases, Genetic diseases, inborn, Child, Muscle strength, Motor activity

摘要：

目的: 总结不同类型儿童遗传性神经肌肉病的运动功能特征。方法: 纳入2018年1月至2024年1月北京大学第一医院收治的61例遗传性神经肌肉病患儿，采用徒手肌力测定法评估四肢肌力并计算四肢肌力百分比，采用运动功能评价量表（MFM）评估全身运动功能、Brooke上肢功能分级评估上肢运动功能、Vignos下肢功能分级评估下肢运动功能，Pearson相关分析和偏相关分析探究MFM总评分和各分区评分与体重指数、四肢肌力百分比、Brooke上肢功能分级、Vignos下肢功能分级的相关性。结果: 共61例患儿包括先天性肌营养不良18例（CMD组）、脊髓性肌萎缩症17例（SMA组）、先天性肌病15例（CM组）、Emery-Dreifuss型肌营养不良11例（EDMD组）。4组患儿四肢肌力百分比（F=23.749，P=0.000）、MFM总评分（F=17.445，P=0.000）及D1分区评分（F=18.671，P=0.000）和D2分区评分（F=10.202，P=0.017）、Brooke上肢功能分级（F=9.313，P=0.025）和Vignos下肢功能分级（F=22.967，P=0.000）差异具有统计学意义。相关分析显示，MFM总评分与四肢肌力百分比呈正相关（r=0.528，P=0.000），与Brooke上肢功能分级（r=-0.607，P=0.000）和Vignos下肢功能分级（r=-0.511，P=0.000）呈负相关；D1分区评分与四肢肌力百分比呈正相关（r=0.303，P=0.020），与Vignos下肢功能分级呈负相关（r=-0.555，P=0.000）；D2分区评分与四肢肌力百分比呈正相关（r=0.332，P=0.010），与Brooke上肢功能分级呈负相关（r=-0.513，P=0.000）；D3分区评分与Brooke上肢功能分级呈负相关（r=-0.469，P=0.000）。结论: 不同类型儿童遗传性神经肌肉病的运动功能特征差异较大，特异性MFM量表可协助评价与分析不同类型的疾病严重程度和运动功能差异。

关键词: 神经肌肉疾病, 遗传性疾病，先天性, 儿童, 肌力, 运动活动