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Muscle Biopsy
  1. Gillian Hall
  1. Department of Clinical Neurosciences, Western General Hospital, Edinburgh EH4 2XU. Email: ghall{at}skull.dcn.ed.ac.uk

    Abstract

    INTRODUCTION

    Good clinical evaluation remains the most effective tool in the assessment of disorders of muscle. Muscle biopsy, like expensive genetic analysis, when used appropriately is a valuable diagnostic aid. When undertaken inappropriately, at best it wastes the time and resources of the surgeon and histopathology department, and at worst has subjected the patient to an unnecessary invasive test.

    The usefulness of a muscle biopsy depends on consideration of all the following four criteria:

    • appropriateness of the test;

    • choice of muscle;

    • biopsy technique;

    • array of histopathology performed.

    APPROPRIATENESS OF THE TEST

    Biopsy is most useful for the diagnosis of:

    • Inflammatory myopathies (diagnosis and to monitor treatment).

    • Certain muscular dystrophies for which the structural abnormality is known but genetic testing is not readily available (where there are many different mutations within the abnormal gene, e.g. the sarcoglycanopathies).

    • Mitochondrial cytopathies, both to look for the

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