Research progress of electrophysiology for the diagnosis of metabolic myopathy

Abstract

Metabolic myopathies comprise a group of diverse disorders characterized by defects ofn energy metabolism in skeletal muscle cells, including glycogen storage disease (GSD), lipid storage myopathy (LSM) and mitochondrial myopathy. The diagnosis of metabolic myopathies is often challenging due to the clinical and etiological heterogeneity between different metabolic myopathies. Generally, the diagnosis of metabolic myopathies is mainly based on the age of onset, family history, clinical manifestation, electrophysiological examinations, serological screening of metabolic markers, muscle biopsy and the DNA testing for specific mutations. The classical electrophysiological diagnostic methods and the corresponding manifestation of metabolic myopathies were reviewed and some new diagnostic techniques, including new motor unit potential (MUP) parameters were introduced in this article.

doi: 10.3969/j.issn.1672-6731.2014.06.002