Diagnosis and management of metabolic myopathies

Metabolic myopathies are a set of rare inborn errors of metabolism leading to disruption in energy production. Relevant to skeletal muscle, glycogen storage disease and fatty acid oxidation defects can lead to exercise intolerance, rhabdomyolysis, and weakness in children and adults, distinct from the severe forms that involve multiple-organ systems. These nonspecific, dynamic symptoms along with conditions that mimic metabolic myopathies can make diagnosis challenging. Clinicians can shorten the time to diagnosis by recognizing the typical clinical phenotypes and performing next generation sequencing. With improved access and affordability of molecular testing, clinicians need to be well-versed in resolving variants of uncertain significance relevant to metabolic myopathies. Once identified, patients can improve quality of life, safely engage in exercise, and reduce episodes of rhabdomyolysis by modifying diet and lifestyle habits.

Automated summary

Metabolic myopathies are rare inherited disorders that disrupt energy production, leading to symptoms such as exercise intolerance, rhabdomyolysis, and weakness in skeletal muscles. Diagnosis can be challenging due to non-specific and dynamic symptoms, as well as conditions that mimic metabolic myopathies. Next generation sequencing can help clinicians recognize typical clinical phenotypes and shorten diagnosis time. With improved molecular testing accessibility, clinicians should be knowledgeable in interpreting variants of uncertain significance relevant to metabolic myopathies. Once diagnosed, patients can improve their quality of life, engage in exercise safely, and reduce episodes of rhabdomyolysis through diet and lifestyle modifications.