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Muscle biopsy: what and why and when?
Practical Neurology Pub Date : 2020-06-05 , DOI: 10.1136/practneurol-2019-002465
Jon Walters 1 , Atik Baborie 2
Affiliation  

Skeletal muscle biopsy remains an important investigative tool in the diagnosis of a variety of muscle disorders. Traditionally, someone with a limb-girdle muscle weakness, myopathic changes on electrophysiology and raised serum creatine kinase (CK) would have a muscle biopsy. However, we are living through a genetics revolution, and so do all such patients still need a biopsy? When should we undertake a muscle biopsy in patients with a distal, scapuloperoneal or other patterns of muscle weakness? When should patients with myositis, rhabdomyolysis, myalgia, hyperCKaemia or a drug-related myopathy have a muscle biopsy? What does normal muscle histology look like and what changes occur in neurogenic and myopathic disorders? As with Kipling’s six honest serving men, we hope that by addressing these issues we can all become more confident about when to request a muscle biopsy and develop clearer insights into muscle pathology.

中文翻译:

肌肉活检:什么、为什么和何时?

骨骼肌活检仍然是诊断各种肌肉疾病的重要调查工具。传统上,具有肢带肌无力、电生理学肌病变化和血清肌酸激酶 (CK) 升高的人会进行肌肉活检。然而,我们正在经历一场遗传学革命,所以所有这些患者还需要活检吗?我们应该在什么时候对远端、肩胛骨或其他肌肉无力的患者进行肌肉活检?肌炎、横纹肌溶解、肌痛、高CKaemia或药物相关肌病患者什么时候应该进行肌肉活检?正常肌肉组织学是什么样的,神经源性和肌病会发生什么变化?就像吉卜林笔下的六个诚实的仆人一样,
更新日期:2020-06-05
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