Journal
RHEUMATIC DISEASE CLINICS OF NORTH AMERICA
Volume 37, Issue 2, Pages 201-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.rdc.2011.01.004
Keywords
Inherited disorders of metabolism; Metabolic myopathy; Glycogen storage disease; Mitochondrial disorder; Fatty acid oxidation
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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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