McDonald Craig M
Department of Physical Medicine and Rehabilitation, University of California Davis Medical Center, 4860 Y Street, Suite 3850, Sacramento, CA 95817, USA.
Phys Med Rehabil Clin N Am. 2012 Aug;23(3):495-563. doi: 10.1016/j.pmr.2012.06.011.
For diagnostic evaluation of a neuromuscular disease, the clinician must be able to obtain a relevant patient and family history and perform focused general, musculoskeletal, neurologic, and functional physical examinations to direct further diagnostic evaluations. Laboratory studies for hereditary neuromuscular diseases include the relevant molecular genetic studies. The electromyogram and nerve-conduction studies remain an extension of the physical examination, and help to guide further diagnostic studies such as molecular genetics and muscle and nerve biopsies. All diagnostic information needs are to be interpreted within the context of relevant historical information, family history, physical examination, laboratory data, electrophysiology, pathology, and molecular genetics.
对于神经肌肉疾病的诊断评估，临床医生必须能够获取相关的患者及家族病史，并进行有针对性的全身、肌肉骨骼、神经和功能体格检查，以指导进一步的诊断评估。遗传性神经肌肉疾病的实验室检查包括相关的分子遗传学研究。肌电图和神经传导研究仍然是体格检查的延伸，有助于指导进一步的诊断研究，如分子遗传学以及肌肉和神经活检。所有诊断信息需求都需要在相关的病史、家族史、体格检查、实验室数据、电生理、病理学和分子遗传学背景下进行解读。
