Muscle disorders: The latest investigations

R. Ghaoui, N. Clarke, P. Hollingworth, M. Needham

    Research output: Contribution to journalArticle

    3 Citations (Scopus)

    Abstract

    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. © 2013 The Authors Internal Medicine Journal © 2013 Royal Australasian College of Physicians.
    Original languageEnglish
    Pages (from-to)970-978
    JournalInternal Medicine Journal
    Volume43
    Issue number9
    DOIs
    Publication statusPublished - 2013

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