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无力、耳聋、视野缺损、神经性耳聋、眼肌麻痹、复视、糖尿、肾功能衰竭
Mitochondrial encephalomyopathy is a group of maternally inherited mitochondrial-DNA or nuclear-DNA disorders affecting high-energy tissues (muscle/brain). Main syndromes: MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes), MERRF, Kearns-Sayre. Clinical: myopathy, exercise intolerance, seizures, dementia, stroke-like episodes, deafness, ophthalmoplegia, and lactic acidosis. There is no cure; treatment is supportive (coenzyme Q10/riboflavin/carnitine), and treat complications; genetic counseling.
Exercise intolerance/myopathy; seizures/dementia; stroke-like episodes; deafness; ophthalmoplegia; lactic acidosis
Mitochondrial DNA mutations impair oxidative phosphorylation in high-energy tissues, producing multi-system disease.
Supportive: CoQ10/riboflavin/carnitine; treat seizures/strokes; genetic counseling
Avoid metabolic stress; supportive care; genetic counseling.
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.
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