Hussain Yessar, Miller Samantha
UT Austin/Dell Medical School, Austin, TX, USA; Austin Neuromuscular Center, 3901 Medical Parkway, Suite 300, Austin, TX 78756, USA.
UT Austin/Dell Medical School, Austin, TX, USA.
Neurol Clin. 2020 Aug;38(3):619-635. doi: 10.1016/j.ncl.2020.04.002.
Healthy muscle relies on a complex and interdependent network that includes, but is not limited to, proteins, ion channels, and the production and utilization of ATP. Disruptions to the system can occur for a number of reasons (genetic mutations, toxins, systemic disease, inflammation), yet they clinically present with symptoms that are nonspecific and common to myopathies: weakness, muscle pain, cramping, hypotonia. This article uses a case-based format to review the clinical reasoning and diagnostic tools that guide the accurate diagnosis of myopathies. We specifically focus on toxic, metabolic, mitochondrial, and late-onset congenital myopathies.
健康的肌肉依赖于一个复杂且相互依存的网络，该网络包括但不限于蛋白质、离子通道以及三磷酸腺苷（ATP）的产生和利用。该系统可能由于多种原因（基因突变、毒素、全身性疾病、炎症）而发生紊乱，但临床上表现出的症状是非特异性的，且是肌病常见的症状：肌无力、肌肉疼痛、痉挛、肌张力减退。本文采用基于病例的形式来回顾指导准确诊断肌病的临床推理和诊断工具。我们特别关注中毒性、代谢性、线粒体性和迟发性先天性肌病。
