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肌病

The myopathies.

作者信息

Younger David S

机构信息

Department of Neurology, New York University School of Medicine, 550 First Avenue, New York, NY 10016, USA.

出版信息

Med Clin North Am. 2003 Jul;87(4):899-907, ix. doi: 10.1016/s0025-7125(03)00030-0.

Abstract

Extraordinary progress has been made in the recognition, understanding, and treatment of myopathy in the past several decades, aided by the application of molecular genetics, electrophysiology, muscle biopsy, and innovative therapies. The symptoms of muscle disease may vary among individual patients with acquired muscle disorders, as well as family members with inherited disorders. A careful history and examination is necessary to establish the symptoms, temporal progression, and distinctive areas of involvement, associated conditions, and suspected inheritance pattern in those patients in whom genetic cause is suspected. Selective laboratory testing is performed in symptomatic patients, which may include creatinine kinase level, electrodiagnostic studies, and, as warranted, examination of blood and muscle tissue for specific histopathological and genetic defects.

摘要

在过去几十年中,借助分子遗传学、电生理学、肌肉活检和创新疗法,在肌病的识别、理解和治疗方面取得了非凡进展。肌肉疾病的症状在获得性肌肉疾病的个体患者以及遗传性疾病的家庭成员中可能有所不同。对于那些怀疑有遗传病因的患者,需要仔细询问病史并进行检查,以确定症状、时间进展、受累的独特部位、相关病症以及疑似遗传模式。对有症状的患者进行选择性实验室检查,可能包括肌酸激酶水平、电诊断研究,并在必要时检查血液和肌肉组织以确定特定的组织病理学和基因缺陷。

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