SDHA-related Mitochondrial Complex II Deficiency

SDHA-related Mitochondrial Complex II Deficiency is a rare genetic disorder caused by pathogenic variants in the SDHA gene, leading to impaired mitochondrial energy production. Affected individuals may experience muscle weakness, exercise intolerance, developmental delay, neurologic symptoms, or organ system involvement depending on severity. Because presentations vary widely, genetic testing is an important tool for confirming the diagnosis and guiding clinical management.