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西班牙东南部地区成人遗传性肌肉疾病的流行病学和分子特征。

Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain.

机构信息

Hospital General Universitario Dr. Balmis, Alicante, España.

Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Alicante, España.

出版信息

Rev Neurol. 2024 May 1;78(9):239-246. doi: 10.33588/rn.7809.2024071.


DOI:10.33588/rn.7809.2024071
PMID:38682761
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11407469/
Abstract

INTRODUCTION: Genetic myopathies constitute a collection of rare diseases that significantly impact patient functionality and quality of life. Early diagnosis of genetic myopathies can prevent future complications and provide families with genetic counselling. Despite the substantial impact of genetic myopathies on the adult population, the global epidemiology of these disorders is inadequately addressed in the literature. AIMS: To enhance understanding of both the epidemiology and genetics of these disorders within the province of Alicante, situated in southeastern Spain. MATERIAL AND METHODS: Between 2020 and 2022, a prospective observational study was conducted at the Alicante Health Area-General Hospital, enrolling patients aged 16 years or older with suspected genetic myopathies. Sociodemographic, clinical, and genetic data were collected. The reference date for prevalence calculation was established as December 31, 2022. Official demographic data of the health area were used to set the population at risk. RESULTS: In total, 83 patients were identified with confirmed genetically related myopathy, resulting in an overall prevalence of 29.59 cases per 100,000 inhabitants. The diagnostic yield for molecular genetic testing was found to be 69.16%. The most prevalent genetic myopathies identified included myotonic dystrophy (27.5%), dystrophinopathies (15.7%), and facioscapulohumeral dystrophy (15.7%). CONCLUSION: The prevalence of GMs can vary considerably depending on the geographical region and the studied population. The analysis of diagnostic yield suggests that genetic studies should be considered useful in the diagnosis of genetic myopathies.

摘要

简介:遗传性肌肉病是一组罕见疾病,严重影响患者的功能和生活质量。早期诊断遗传性肌肉病可预防未来的并发症,并为患者家庭提供遗传咨询。尽管遗传性肌肉病对成年人群有重大影响,但这些疾病的全球流行病学在文献中仍未得到充分解决。

目的:提高对西班牙东南部阿利坎特省遗传性肌肉病的流行病学和遗传学的认识。

材料和方法:2020 年至 2022 年,在阿利坎特卫生区总医院进行了一项前瞻性观察研究,纳入年龄在 16 岁及以上、疑似遗传性肌肉病的患者。收集患者的社会人口学、临床和遗传学数据。患病率计算的参考日期定为 2022 年 12 月 31 日。使用卫生区的官方人口数据来确定目标人群。

结果:共确定 83 例经基因证实的相关肌肉病患者,总体患病率为每 10 万人中有 29.59 例。分子遗传学检测的诊断率为 69.16%。最常见的遗传性肌肉病包括肌强直性营养不良(27.5%)、肌营养不良症(15.7%)和面肩肱型肌营养不良症(15.7%)。

结论:GM 的患病率可能因地理位置和研究人群的不同而有很大差异。诊断率的分析表明,遗传研究应被认为对遗传性肌肉病的诊断有用。

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