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Related Experiment Video

Updated: Dec 19, 2025

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Muscle biopsy: what and why and when?

Jon Walters1, Atik Baborie2

  • 1Neurology, Morriston Hospital, Swansea, UK richard.walters@wales.nhs.uk.

Practical Neurology
|June 7, 2020
PubMed
Summary

Skeletal muscle biopsy is a key diagnostic tool for muscle disorders. This review clarifies when to perform biopsies, considering genetic advances and various clinical presentations, to improve diagnostic confidence and understanding of muscle pathology.

Keywords:
MUSCLE DISEASE

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Area of Science:

  • Neurology
  • Pathology
  • Genetics

Background:

  • Skeletal muscle biopsy is a traditional diagnostic method for muscle disorders, often indicated by limb-girdle weakness, myopathic electrophysiology, and elevated creatine kinase (CK).
  • The advent of genetic testing has prompted a re-evaluation of the necessity and indications for muscle biopsies.
  • This review addresses the evolving role of muscle biopsy in diagnosing diverse muscle conditions.

Observation:

  • The article explores specific clinical scenarios, including distal, scapuloperoneal weakness, myositis, rhabdomyolysis, myalgia, hyperCKaemia, and drug-induced myopathies.
  • It discusses the histological features of normal muscle tissue.
  • It details pathological changes observed in neurogenic and myopathic disorders.

Findings:

  • The review aims to provide clarity on the appropriate indications for skeletal muscle biopsy in contemporary clinical practice.
  • It emphasizes the importance of integrating genetic information with clinical and histological findings.
  • Understanding normal and abnormal muscle histology is crucial for accurate diagnosis.

Implications:

  • Enhanced confidence in requesting muscle biopsies for diagnosing muscle disorders.
  • Improved diagnostic accuracy and patient management through a refined understanding of muscle pathology.
  • Facilitating clearer insights into the underlying mechanisms of various neuromuscular conditions.