Expert Clinical Perspectives: Diagnosis and management of metabolic myopathies-Article

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Metabolic myopathies are rare inborn errors of metabolism that affect the production of energy in the body. These disorders can cause symptoms such as exercise intolerance, rhabdomyolysis (muscle breakdown), and weakness. Diagnosis of metabolic myopathies can be challenging due to their nonspecific symptoms and the presence of other conditions that mimic these disorders. However, clinicians can expedite the diagnosis by recognizing the typical clinical phenotypes and using next-generation sequencing for molecular testing. Once a metabolic myopathy is identified, patients can improve their quality of life by modifying their diet and lifestyle habits. For example, in glycogen storage diseases, a diet with complex carbohydrates is beneficial, while patients with fatty acid oxidation defects should consume a diet rich in carbohydrates and low in fats. Exercise therapy can also be beneficial for patients with metabolic myopathies if it is conducted gradually and progressively. In some cases, enzyme replacement therapy or specific supplements such as L-carnitine or Coenzyme Q10 may be recommended. It is important for clinicians to be aware of other conditions that can mimic metabolic myopathies and to consider a broad range of genetic testing to ensure an accurate diagnosis. Overall, early diagnosis and appropriate management of metabolic myopathies can greatly improve the quality of life for affected individuals.

Keywords

Metabolic myopathies

inborn errors of metabolism

energy production

exercise intolerance

rhabdomyolysis

weakness

diagnosis

diet modification

exercise therapy

genetic testing