Neuromuscular Biopsy

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Nerve, muscle, and skin biopsy play important roles in neuromuscular diagnosis. Muscle biopsy can be the most important diagnostic tool in several muscle disorders, including inflammatory myopathies and congenital myopathies, and mitochondrial disorders, where both muscle pathology and genetic testing of muscle cells can be of critical utility. Nerve biopsy is particularly useful to establish a diagnosis in cases of suspected vasculitis or infiltrative conditions. Epidermal nerve fiber density testing from skin biopsy provides a minimally invasive and highly sensitive method to confirm a clinical diagnosis of small fiber neuropathy. In this chapter, we describe the techniques of, and indications for, nerve, muscle, and skin biopsy in neuromuscular disorders.

Original languageEnglish (US)
Title of host publicationClinical Handbook of Neuromuscular Medicine, Second Edition
PublisherSpringer Nature
Pages73-85
Number of pages13
ISBN (Electronic)9783031704598
ISBN (Print)9783031704581
DOIs
StatePublished - Jan 1 2025

Bibliographical note

Publisher Copyright:
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2018, 2024.

Keywords

  • Muscle biopsy
  • Nerve biopsy
  • Skin biopsy

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