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首页> 外文期刊>Continuum: lifelong learning in neurology >Mitochondrial and Metabolic Myopathies.
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Mitochondrial and Metabolic Myopathies.

机译：线粒体和代谢肌病。

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This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on those syndromes and diseases associated with myopathy. Over the past decade, advances in genetic testing have revolutionized patient evaluation. The main goal of this review is to give the clinician the basic understanding to recognize patients at risk of these diseases using the standard history and physical examination. Primary mitochondrial disease is the current designation for the illnesses resulting from genetic mutations in genes whose protein products are necessary for mitochondrial structure or function. In most circumstances, more than one organ system is involved in mitochondrial disease, and the value of the classic clinical features as originally described early in the history of mitochondrial diseases has reemerged as being important to identifying patients who may have a primary mitochondrial disease. The use of the genetic laboratory has become the most powerful tool for confirming a diagnosis, and nuances of using genetic results will be discussed in this article. Treatment for mitochondrial disease is symptomatic, with less emphasis on vitamin and supplement therapy than in the past. Clinical trials using pharmacologic agents are in progress, with the field attempting to define proper goals of treatment. Several standard accepted therapies exist for many of the metabolic myopathies. Mitochondrial, lipid, and glycogen diseases are not uncommon causes of multisystem organ dysfunction, with the neurologic features, especially myopathy, occurring as a predominant feature. Early recognition requires basic knowledge of the varied clinical phenotypes before moving forward with a screening evaluation and possibly a genetic evaluation. Aside from a few specific diseases for which there are recommended interventions, treatment for the majority of these disorders remains symptomatic, with clinical trials currently in progress that will hopefully result in standard treatments.
机译：本文概述了线粒体和代谢生物学的概述，遗传机制引起线粒体疾病，线粒体疾病，脂质肌病和糖原储存疾病的临床特征，所有人都关注那些与肌病相关的综合征和疾病。在过去的十年中，遗传测试的进步已经彻底改变了患者评估。本综述的主要目标是为临床医生提供基本的理解，识别患者使用标准历史和体力检查识别这些疾病风险的患者。原发性线粒体疾病是由蛋白质产品对于线粒体结构或功能所需的基因产生的疾病的目前的疾病指定。在大多数情况下，不止一个器官系统参与线粒体疾病，并且在线粒体疾病历史中最初描述的经典临床特征的价值已重新再现对鉴定可能具有原发性线粒体疾病的患者至关重要。遗传实验室的使用已成为确认诊断最强大的工具，本文将在本文中讨论使用遗传结果的细微差异。线粒体疾病的治疗是对症的，对维生素和补充疗法的重点较小，而不是过去。使用药物药物的临床试验正在进行中，该领域试图确定治疗的适当目标。许多代谢肌病存在若干标准接受的疗法存在。线粒体，脂质和糖原疾病并不罕见的多系统器官功能障碍的原因，具有神经功能，尤其是肌病，作为主要特征发生。早期识别需要在通过筛选评估和遗传评估之前前进之前对各种临床表型的基本知识。除了有一些特定的疾病，其中有推荐干预措施，对大多数这些疾病的治疗仍然存在症状，目前正在进行的临床试验，希望能够导致标准治疗。

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