Neuromuscular pathology: overview

Andrew J Waclawik MD (Dr. Waclawik of the University of Wisconsin School of Medicine and Public Health has no relevant financial relationships to disclose.)
Louis H Weimer MD, editor. (Dr. Weimer of Columbia University has received consulting fees from Roche.)
Originally released January 11, 2007; last updated December 3, 2016; expires December 3, 2019

This article includes discussion of neuromuscular pathology: overview, muscle biopsy, and nerve biopsy. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Interpreting muscle and nerve biopsies requires a very careful correlation of pathological alterations with clinical information, results of electrodiagnostic studies, and other laboratory investigations. Over the last several decades there has been remarkable progress in various histological, enzyme histochemical, electron microscopic, and immunohistochemical techniques used in muscle and nerve pathology. In this overview of neuromuscular pathology, the author provides an introduction to muscle and nerve pathology and discusses the clinical utility of muscle and nerve biopsies in the diagnosis of various neuromuscular diseases.

Key points

 

• 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.

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