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迟发性原发性肌肉疾病模仿少肌症。

Late-onset primary muscle diseases mimicking sarcopenia.

机构信息

Department of Neurology, International University of Health and Welfare Narita Hospital, Narita, Japan.

出版信息

Geriatr Gerontol Int. 2024 Nov;24(11):1099-1110. doi: 10.1111/ggi.15000. Epub 2024 Oct 14.

DOI:10.1111/ggi.15000
PMID:39402847
Abstract

Sarcopenia is an age-related loss of skeletal muscle mass, strength, and function that causes various health problems. In contrast, late-onset primary myopathies, which occur in the older population, are caused by a variety of factors, including genetic mutations, autoimmune processes, and metabolic abnormalities. Although sarcopenia and primary myopathy are two distinct disease processes, their symptoms can overlap, making differentiation challenging. The diagnostic criteria for sarcopenia have evolved over time, and various criteria have been proposed by expert groups. Late-onset primary muscle diseases such as inclusion body myositis, sporadic late-onset nemaline myopathy, muscular dystrophies, distal myopathies, myofibrillar myopathies, metabolic myopathies, and mitochondrial myopathies share common pathogenic mechanisms with sarcopenia, further complicating the diagnostic process. Appropriate clinical evaluation, including detailed history-taking, physical examination, and diagnostic testing, is essential for accurate diagnosis and management. Treatment approaches, including exercise, nutritional support, and disease-specific therapies, must be tailored to the characteristics of each disease. Despite these differences, sarcopenia and primary myopathies require careful consideration in the clinical setting for proper diagnosis and management. This review outlines the evolution of diagnostic criteria and diagnostic items for sarcopenia, late-onset primary myopathies that should be differentiated from sarcopenia, common pathomechanisms, and diagnostic algorithms to properly differentiate primary myopathies. Geriatr Gerontol Int 2024; 24: 1099-1110.

摘要

肌肉减少症是一种与年龄相关的骨骼肌质量、力量和功能丧失,会导致各种健康问题。相比之下,老年人中发生的迟发性原发性肌病是由多种因素引起的,包括基因突变、自身免疫过程和代谢异常。尽管肌肉减少症和原发性肌病是两种截然不同的疾病过程,但它们的症状可能会重叠,这使得区分变得具有挑战性。肌肉减少症的诊断标准随着时间的推移而演变,专家组提出了各种标准。迟发性原发性肌肉疾病,如包涵体肌炎、散发性迟发性先天性肌营养不良、肌营养不良症、远端肌病、肌原纤维肌病、代谢性肌病和线粒体肌病,与肌肉减少症具有共同的发病机制,进一步使诊断过程复杂化。适当的临床评估,包括详细的病史询问、体格检查和诊断性测试,对于准确的诊断和管理至关重要。治疗方法,包括运动、营养支持和针对特定疾病的治疗,必须根据每种疾病的特点进行调整。尽管存在这些差异,但在临床环境中,肌肉减少症和原发性肌病需要仔细考虑,以进行正确的诊断和管理。本综述概述了肌肉减少症诊断标准和诊断项目的演变、应与肌肉减少症区分的迟发性原发性肌病、常见的发病机制以及用于正确区分原发性肌病的诊断算法。老年医学与老年病学国际 2024;24:1099-1110。

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