Neuromuscular pathology: overview

Key points
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By Andrew J Waclawik MD
  • Muscle and nerve biopsies may provide valuable information for clinicians evaluating patients with neuromuscular conditions.
  • Both open and needle muscle biopsy techniques have been used. Percutaneous needle muscle biopsy is a relatively simple and rapid procedure that can be performed in an outpatient clinic setting.
  • Interpretation of muscle and nerve biopsies requires a very careful correlation of the pathological findings with the clinical information and other laboratory investigations.
  • Histological, enzyme histochemical, electron microscopical, and immunohistochemical techniques are used in muscle and nerve pathology.
  • Electron microscopy and immunohistochemistry should be done only in selected cases, based on clinical data and histochemical findings.
  • Often, genetic testing can provide a specific neuromuscular diagnosis, obviating the need for muscle or nerve biopsy.
  • In the vast majority of patients with peripheral neuropathy, nerve biopsy is not necessary, and a specific diagnosis can be made based on clinical assessment and electrophysiological and laboratory studies, including, if applicable, genetic testing.

In This Article

Key points
Introduction
Muscle biopsy
Nerve biopsy
References cited
Contributors