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.