Limb-Girdle Muscular Dystrophies.

Q1 Medicine
Teerin Liewluck
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引用次数: 0

Abstract

Objective: This article reviews the current classification system, common subtypes, differential diagnosis, diagnostic algorithms, current management strategies, and evolving therapeutic areas for limb-girdle muscular dystrophies (LGMDs).

Latest developments: There are currently five dominantly inherited LGMDs (LGMD-D1 to D5) and 29 recessively inherited LGMDs (LGMD-R1 to R29). Progress in molecular genetics makes next-generation sequencing gene panels the initial step in diagnosing LGMD and, in some cases, obviates the need for muscle biopsy. The panel should include LGMD genes and genes responsible for other hereditary myopathies and congenital myasthenic syndromes. Whole-exome sequencing or whole-genome sequencing can be performed before or after a muscle biopsy, depending on the specifics of each case. Once a diagnosis of LGMD is established, genetic counseling, symptomatic and supportive care, and cardiopulmonary surveillance remain the cornerstones of management. However, results from preclinical studies and early-stage clinical trials of genetic therapies for common LGMD-R subtypes are promising.

Essential points: Progressive proximal weakness and hyperCKemia are hallmark features of LGMDs; however, they are not specific and can also be observed in many acquired and hereditary myopathies. Muscle biopsy is typically reserved for patients with negative or inconclusive genetic testing and can be particularly useful for verifying the pathogenicity of variants of uncertain significance. Advances in molecular genetics and genetic therapies have revolutionized the diagnostic landscape of LGMDs and paved the way for future disease-specific treatments.

四肢带状肌肉萎缩症。
目的:本文综述了肢带性肌营养不良症(LGMDs)的分类系统、常见亚型、鉴别诊断、诊断算法、当前管理策略和不断发展的治疗领域。最新进展:目前有5个显性遗传lgmd (LGMD-D1至D5)和29个隐性遗传lgmd (LGMD-R1至R29)。分子遗传学的进步使下一代测序基因面板成为诊断LGMD的第一步,在某些情况下,不需要进行肌肉活检。该小组应包括LGMD基因和负责其他遗传性肌病和先天性肌无力综合征的基因。全外显子组测序或全基因组测序可以在肌肉活检之前或之后进行,这取决于每个病例的具体情况。一旦确定LGMD的诊断,遗传咨询、对症和支持性护理以及心肺监测仍然是治疗的基础。然而,常见LGMD-R亚型基因治疗的临床前研究和早期临床试验的结果是有希望的。要点:进行性近端无力和高血氧症是LGMDs的标志性特征;然而,它们不是特异性的,也可以在许多获得性和遗传性肌病中观察到。肌肉活检通常用于基因检测呈阴性或不确定的患者,对于验证意义不确定的变异的致病性特别有用。分子遗传学和遗传疗法的进步彻底改变了LGMDs的诊断前景,并为未来的疾病特异性治疗铺平了道路。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
5.80
自引率
0.00%
发文量
175
期刊介绍: Continue your professional development on your own schedule with Continuum: Lifelong Learning in Neurology®, the American Academy of Neurology" self-study continuing medical education publication. Six times a year you"ll learn from neurology"s experts in a convenient format for home or office. Each issue includes diagnostic and treatment outlines, clinical case studies, a topic-relevant ethics case, detailed patient management problem, and a multiple-choice self-assessment examination.
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