Mitochondrial Encephalomyopathy

Mitochondrial encephalomyopathies are a group of disorders caused by defects in mitochondrial DNA or nuclear genes affecting oxidative phosphorylation. Clinical features include seizures, stroke-like episodes, cognitive decline, myopathy, and lactic acidosis. Pathophysiology involves impaired ATP production and increased oxidative stress. Diagnosis relies on metabolic studies, muscle biopsy, neuroimaging, and genetic testing. Management is supportive, focusing on seizure control, metabolic optimization, and physiotherapy; prognosis is variable depending on the mutation and organ involvement.