Mitochondrial Myopathy

Mitochondrial myopathies are inherited disorders characterized by skeletal muscle weakness, exercise intolerance, and multisystem involvement. Pathophysiology involves mitochondrial DNA or nuclear gene mutations impairing oxidative phosphorylation. Diagnosis relies on clinical features, laboratory studies (elevated CK, lactate), muscle biopsy, and genetic testing. Management is supportive, including exercise therapy, metabolic optimization, and symptomatic treatment. Prognosis is variable, often progressive with multisystem complications.