Metabolic myopathies: clinical features and diagnostic approach

Edward C Smith; Areeg El-Gharbawy; Dwight D Koeberl

doi:10.1016/j.rdc.2011.01.004

Metabolic myopathies: clinical features and diagnostic approach

Rheum Dis Clin North Am. 2011 May;37(2):201-17, vi. doi: 10.1016/j.rdc.2011.01.004.

Authors

Edward C Smith¹, Areeg El-Gharbawy, Dwight D Koeberl

Affiliation

¹ Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, DUMC Box 3936, Durham, NC 27710, USA.

PMID: 21444020
DOI: 10.1016/j.rdc.2011.01.004

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.

Publication types

Review

MeSH terms

Early Diagnosis
Humans
Lipid Metabolism Disorders
Metabolism, Inborn Errors*
Muscle, Skeletal / metabolism
Muscle, Skeletal / pathology
Muscular Diseases / diagnosis*
Muscular Diseases / metabolism