Abstract：
BACKGROUND: Congenital myopathies are rare neuromuscular disorders presenting with a wide spectrum of clinical features, including long bone fractures (LBFs) that negatively influence functional prognosis, quality of life and survival. Systematic research on bone quality in these patients is lacking.
OBJECTIVE: This scoping review aims to summarize all evidence on bone quality and to deduce recommendations for bone quality management in congenital myopathies.
METHODS: Five electronic databases (Pubmed, Embase, Cochrane, Web of Science, CINAHL) were searched. All studies on bone quality in congenital myopathies were included. Decreased bone quality was defined as low bone mineral density and/or (fragility) LBFs. Study selection and data extraction were performed by three independent reviewers.
RESULTS: We included 244 single cases (mean: 4.1±7.6 years; median: 0 years) diagnosed with a congenital myopathy from 35 articles. Bone quality was decreased in 93 patients (37%) (mean: 2.6±6.8 years; median: 0 years). Low bone mineral density was reported in 11 patients (4.5%) (mean: 10.9±9.7; median: 11 years). Congenital LBFs were reported in 64 patients (26%). (Fragility) LBFs later at life were described in 24 patients (9.8%) (mean: 14.9±11.0; median: 14 years). Four cases (1.6%) were reported to receive vitamin D and/or calcium supplementation or diphosphonate administration.
CONCLUSIONS: LBFs are thus frequently reported in congenital myopathies. We therefore recommend optimal bone quality management through bone mineral density assessment, vitamin D and calcium suppletion, and referral to internal medicine or pediatrics for consideration of additional therapies in order to prevent complications of low bone mineral density.
OBJECTIVE: This scoping review aims to summarize all evidence on bone quality and to deduce recommendations for bone quality management in congenital myopathies.
METHODS: Five electronic databases (Pubmed, Embase, Cochrane, Web of Science, CINAHL) were searched. All studies on bone quality in congenital myopathies were included. Decreased bone quality was defined as low bone mineral density and/or (fragility) LBFs. Study selection and data extraction were performed by three independent reviewers.
RESULTS: We included 244 single cases (mean: 4.1±7.6 years; median: 0 years) diagnosed with a congenital myopathy from 35 articles. Bone quality was decreased in 93 patients (37%) (mean: 2.6±6.8 years; median: 0 years). Low bone mineral density was reported in 11 patients (4.5%) (mean: 10.9±9.7; median: 11 years). Congenital LBFs were reported in 64 patients (26%). (Fragility) LBFs later at life were described in 24 patients (9.8%) (mean: 14.9±11.0; median: 14 years). Four cases (1.6%) were reported to receive vitamin D and/or calcium supplementation or diphosphonate administration.
CONCLUSIONS: LBFs are thus frequently reported in congenital myopathies. We therefore recommend optimal bone quality management through bone mineral density assessment, vitamin D and calcium suppletion, and referral to internal medicine or pediatrics for consideration of additional therapies in order to prevent complications of low bone mineral density.
摘要：
背景：先天性肌病是罕见的神经肌肉疾病，具有广泛的临床特征，包括影响功能预后的长骨骨折（LBF），生活质量和生存。缺乏对这些患者骨质量的系统研究。
目的：本范围综述旨在总结骨质量的所有证据，并为先天性肌病的骨质量管理提供建议。
方法：五个电子数据库(Pubmed，Embase,科克伦,WebofScience,CINAHL)进行了搜索。包括所有有关先天性肌病骨质量的研究。骨质量下降被定义为低骨矿物质密度和/或(脆性)LBF。研究选择和数据提取由三名独立评审员进行。
结果：我们从35篇文献中纳入了244例诊断为先天性肌病的单例病例（平均：4.1±7.6年；中位数：0年）。93例患者（37％）的骨质量下降（平均：2.6±6.8年；中位数：0年）。据报道，11例患者（4.5％）的骨密度较低（平均：10.9±9.7；中位数：11年）。在64例患者中报告了先天性LBF（26％）。（脆性）在24例患者（9.8％）中描述了生命后期的LBF（平均值：14.9±11.0；中位数：14年）。据报道有4例（1.6％）接受维生素D和/或钙补充剂或二膦酸盐给药。
结论：因此在先天性肌病中经常报告LBF。因此，我们建议通过骨密度评估进行最佳的骨骼质量管理，维生素D和钙的补充，和转诊内科或儿科考虑额外的治疗，以防止低骨密度的并发症。
目的：本范围综述旨在总结骨质量的所有证据，并为先天性肌病的骨质量管理提供建议。
方法：五个电子数据库(Pubmed，Embase,科克伦,WebofScience,CINAHL)进行了搜索。包括所有有关先天性肌病骨质量的研究。骨质量下降被定义为低骨矿物质密度和/或(脆性)LBF。研究选择和数据提取由三名独立评审员进行。
结果：我们从35篇文献中纳入了244例诊断为先天性肌病的单例病例（平均：4.1±7.6年；中位数：0年）。93例患者（37％）的骨质量下降（平均：2.6±6.8年；中位数：0年）。据报道，11例患者（4.5％）的骨密度较低（平均：10.9±9.7；中位数：11年）。在64例患者中报告了先天性LBF（26％）。（脆性）在24例患者（9.8％）中描述了生命后期的LBF（平均值：14.9±11.0；中位数：14年）。据报道有4例（1.6％）接受维生素D和/或钙补充剂或二膦酸盐给药。
结论：因此在先天性肌病中经常报告LBF。因此，我们建议通过骨密度评估进行最佳的骨骼质量管理，维生素D和钙的补充，和转诊内科或儿科考虑额外的治疗，以防止低骨密度的并发症。
