Symptomatic Evaluation of Metabolic Myopathies

Fehime ERDEMa , Ebru CANDAa

aEge University Faculty of Medicine, Department of Pediatric Metabolism Diseases, İzmir, Türkiye

ABSTRACT
Metabolic myopathies are genetic disorders of impaired metabolism characterized by insufficient energy production as a result of glycogen, lipid or mitochondrial metabolism. Most cases present with exercise intolerance, rhabdomyolysis, and muscle weakness. The clinical examination is often normal between acute events. Hypotonia, hypoglycemia, encephalopathy, cardiomyopathy, Reye like syndrome, hepatosteatosis could be recognized as systemic involvement. The metabolic myopathies can be viewed as static or dynamic pattern from the clinical standpoint. This review focus on diagnostic approach of metabolic myopathy based on clinical symptoms.
Keywords: Myopathy; glycogenosis; mitochondrial disease; fatty acid oxidation

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