Mitochondrial Disease

Mitochondrial diseases are disorders of oxidative phosphorylation (mtDNA or nDNA mutations) affecting high-energy tissues. Classic syndromes: MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes), MERRF (myoclonus epilepsy with ragged-red fibers), Kearns-Sayre (ophthalmoplegia, retinopathy, heart block), and Leigh syndrome. Clinical: myopathy, exercise intolerance, encephalopathy, seizures, deafness, diabetes, cardiomyopathy. Treatment is supportive (coenzyme Q10, vitamins, manage complications). No curative therapy.

Common Symptoms

Myopathy/exercise intolerance; lactic acidosis; seizures/stroke-like episodes; ophthalmoplegia/deafness; diabetes/cardiomyopathy

Causes and Pathogenesis

Maternal mtDNA or nuclear DNA mutations impair OXPHOS, causing energy failure in muscle/brain/heart/endocrine tissues.

Treatment

Supportive: coenzyme Q10, L-carnitine, vitamins; manage seizures/cardiac block/diabetes; avoid OXPHOS-toxic drugs

Preventive Measures

Genetic counseling; family mtDNA screening; careful anesthesia.

Department to Visit

It is recommended to visit the Neurology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.