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对一大群贝克肌肉营养不良症患者进行单中心队列研究以制定标准化护理指南。

Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.

作者信息

Riguzzi Pietro, Borland Holly, James Meredith K, Bourke John, Bettolo Chiara Marini, Lofra Robert Muni, Diaz-Manera Jordi, Tasca Giorgio, Schiava Marianela, ElSeed Maha, Harris Elizabeth, Grover Emma, Geagan Chloe, Diaz Carla Bolano, Haagsma Ariele Barreto, Salman Doaa, Reeves Tara, Kocak Goknur S, Robinson Emma, Waldock Peter, McCallum Michelle, Michell-Sodhi Jassi, Moat Dionne, Wong Karen, Topf Ana, Pegoraro Elena, Bello Luca, Straub Volker, Guglieri Michela

机构信息

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle Upon Tyne, NE1 3BZ, UK.

Department of Neurosciences DNS, University of Padova, Padua, Italy.

出版信息

J Neurol. 2025 Jun 7;272(7):448. doi: 10.1007/s00415-025-13126-9.

Abstract

AIMS

This retrospective, cross-sectional study aimed to characterise a large cohort of paediatric and adult patients with Becker muscular dystrophy (BMD) to inform clinical care.

RESULTS

The analysis included data from 163 male patients with genetically confirmed BMD followed up at a highly specialised neuromuscular centre between 1982 and 2023. The mean age at last neuromuscular assessment was 33.2 years (range 1.4-86.3). Large deletions in the DMD gene were the most common variants (78% of cases), followed by large duplications and small variants, each accounting for 11% of cases. BMD diagnosis was prompted by skeletal muscle symptoms in 52.2% of cases, a positive family history in 27.6%, neuropsychiatric issues or diagnoses in 9.7%, incidental findings in 6.7%, and cardiomyopathy in 3.8%. Twenty-three percent of patients were non-ambulant at last evaluation, with a mean age at loss of ambulation (LoA) of 42.2 years (range 11.2-77.6 years). Disease duration correlated with the severity of motor impairment (expressed as fully ambulant, ambulant with limitation, ambulant with aids, non-ambulant) at last assessment. Cardiac involvement was observed in 52.3% of patients. Severe respiratory impairment was rare and more prevalent in non-ambulant patients. Neuropsychiatric issues were common (44.2%), but only 18.4% of patients had a formal diagnosis.

CONCLUSIONS

Retrospective analyses of clinical case records contribute to improved understanding of the variability of phenotypes of BMD. Combined with data from other large cohorts, these findings can contribute to the development of standard of care guidelines for BMD and inform the design of clinical trials of novel therapies.

摘要

目的

这项回顾性横断面研究旨在对一大群患有贝克肌肉营养不良症(BMD)的儿科和成年患者进行特征描述,以为临床护理提供参考。

结果

该分析纳入了1982年至2023年间在一家高度专业化的神经肌肉中心接受随访的163例基因确诊为BMD的男性患者的数据。末次神经肌肉评估时的平均年龄为33.2岁(范围1.4 - 86.3岁)。DMD基因的大片段缺失是最常见的变异类型(占病例的78%),其次是大片段重复和小变异,各占病例的11%。52.2%的病例因骨骼肌症状促使进行BMD诊断,27.6%因家族史阳性,9.7%因神经精神问题或诊断,6.7%因偶然发现,3.8%因心肌病。在末次评估时,23%的患者无法行走,失去行走能力(LoA)的平均年龄为42.2岁(范围11.2 - 77.6岁)。疾病持续时间与末次评估时的运动障碍严重程度(分为完全可行走、行走受限、借助辅助器具行走、无法行走)相关。52.3%的患者观察到心脏受累。严重呼吸功能障碍很少见,在无法行走的患者中更普遍。神经精神问题很常见(44.2%),但只有18.4%的患者有正式诊断。

结论

对临床病例记录的回顾性分析有助于更好地理解BMD表型的变异性。结合其他大型队列的数据,这些发现有助于制定BMD的护理标准指南,并为新型疗法的临床试验设计提供参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6f59/12145297/7ac7c4fa2de1/415_2025_13126_Fig1_HTML.jpg

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