Muscle disorders: the latest investigations

被引：4

作者：

Ghaoui, R. ^{[1
]}

Clarke, N. ^{[2
,3
]}

Hollingworth, P. ^{[4
,5
]}

Needham, M. ^{[6
]}

机构：

[1] Univ Sydney, Royal N Shore Hosp, Dept Neurol, Sydney, NSW 2006, Australia

[2] Univ Sydney, Childrens Hosp Westmead, INMR, Sydney, NSW 2006, Australia

[3] Univ Sydney, Discipline Paediat & Child Hlth, Sydney Med Sch, Sydney, NSW 2006, Australia

[4] Sir Charles Gairdner Hosp, Pathwest, Dept Immunol, Perth, WA, Australia

[5] Univ Western Australia, Perth, WA 6009, Australia

[6] Fremantle Hosp, Australian Neuromuscular Res Inst, Perth, WA, Australia

来源：

INTERNAL MEDICINE JOURNAL | 2013年 / 43卷 / 09期

关键词：

myopathy; diagnosis; latest investigation; next-generation sequencing; exome; myositis-specific antibody; CYTOSOLIC 5'-NUCLEOTIDASE 1A; WHOLE-GENOME; AUTOANTIBODIES; RECOGNITION; ULTRASOUND;

D O I：

10.1111/imj.12234

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Patients with muscle disorders can present a diagnostic challenge to physicians because of the different ways they can present and the large number of different underlying causes. Recognition of the myopathic phenotype' coupled with investigations usually including electrodiagnostic and histological investigations have been essential for diagnosing the underlying cause of a myopathy. Despite these standard investigations, some patients can remain undiagnosed. New tests including more specific antibody tests for immune-mediated myopathies and the introduction of next-generation sequencing promise to revolutionise diagnostic approaches for immune and inherited myopathies, but clinical expertise remains essential to choose the most appropriate tests and interpret the results. The aim of this review is to provide an overview of the different presentations to the neuromuscular clinic and the latest investigations that can be helpful in the diagnosis of muscle disorders.

引用

页码：970 / 978

页数：9

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