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Updated: Jun 3, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
Metabolic myopathies: clinical features and diagnostic approach
Edward C Smith1, Areeg El-Gharbawy, Dwight D Koeberl
1Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, DUMC Box 3936, Durham, NC 27710, USA.
Abstract:
The rheumatologist is frequently called on to evaluate patients with complaints of myalgia, muscle cramps, and fatigue. The evaluation of these patients presents a diagnostic challenge given the nonspecific and intermittent nature of their complaints, often leading to inappropriate diagnostic testing. When these symptoms are associated with physical exertion, a metabolic myopathy should be suspected Although inflammatory myopathies may present with similar features, such a pattern should prompt a thorough evaluation for an underlying metabolic myopathy. This review discusses the most common causes of metabolic myopathies and reviews the current diagnostic options available to the clinician.
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