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Metabolic Myopathies

Tobon, Alejandro MD

doi: 10.1212/01.CON.0000440660.41675.06
Review Articles

Purpose of Review: The metabolic myopathies result from inborn errors of metabolism affecting intracellular energy production due to defects in glycogen, lipid, adenine nucleotides, and mitochondrial metabolism. This article provides an overview of the most common metabolic myopathies.

Recent Findings: Our knowledge of metabolic myopathies has expanded rapidly in recent years, providing us with major advances in the detection of genetic and biochemical defects. New and improved diagnostic tools are now available for some of these disorders, and targeted therapies for specific biochemical deficits have been developed (ie, enzyme replacement therapy for acid maltase deficiency).

Summary: The diagnostic approach for patients with suspected metabolic myopathy should start with the recognition of a static or dynamic pattern (fixed versus exercise-induced weakness). Individual presentations vary according to age of onset and the severity of each particular biochemical dysfunction. Additional clinical clues include the presence of multisystem disease, family history, and laboratory characteristics. Appropriate investigations, timely treatment, and genetic counseling are discussed for the most common conditions.

Address correspondence to Dr Alejandro Tobon, University of Texas Health Science Center San Antonio, 8300 Floyd Curl Drive, San Antonio, TX, 78229, tobon@uthscsa.edu.

Relationship Disclosure: Dr Tobon reports no disclosure.

Unlabeled Use of Products/Investigational Use Disclosure: Dr Tobon reports no disclosure.

© 2013 American Academy of Neurology
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