The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
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DOI：
10.1002/mus.25192
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发表时间：
2017-01-01
期刊：
影响因子：
3.4
通讯作者：
Comi, Giacomo Pietro
中科院分区：
文献类型：
--
作者：
Magri, Francesca;Nigro, Vincenzo;Comi, Giacomo Pietro
简介：肢带型肌营养不良症（LGMD）的特点是高分子异质性，临床重叠，缺乏特异性生物标志物。它们的分子定义对于预后和治疗目的是基本的。方法：我们创建了一个意大利LGMD登记处，其中包括370名分子定义的患者。我们回顾了详细的回顾性和前瞻性数据，并比较了每种LGMD亚型的鉴别诊断目的。结果：在意大利，LGMD 2A和2B型是最常见的形式。在疾病发作、临床进展以及心脏和呼吸系统受累时的年龄在每个LGMD亚型之间可以有很大差异。在一组广泛研究的患者中，靶向下一代测序（NGS）在36.5%的病例中发现了突变。总结：详细的临床表征结合肌肉组织分析是指导鉴别诊断和解决分子测试的基础。NGS可用于诊断没有特异性生物标志物的形式，尽管至少在我们的研究队列中，仍有几种LGMD疾病机制有待确定。肌肉神经55：55-68，2017
Introduction: Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their molecular definition is fundamental for prognostic and therapeutic purposes. Methods: We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective and prospective data and compared each LGMD subtype for differential diagnosis purposes. Results: LGMD types 2A and 2B are the most frequent forms in Italy. The ages at disease onset, clinical progression, and cardiac and respiratory involvement can vary greatly between each LGMD subtype. In a set of extensively studied patients, targeted next-generation sequencing (NGS) identified mutations in 36.5% of cases. Conclusion: Detailed clinical characterization combined with muscle tissue analysis is fundamental to guide differential diagnosis and to address molecular tests. NGS is useful for diagnosing forms without specific biomarkers, although, at least in our study cohort, several LGMD disease mechanisms remain to be identified. Muscle Nerve55: 55-68, 2017