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How can mitochondrial myopathy be treated?

Q: My 10 years old son has mitochondrial myopathy disease. Four years back, he got fits that resulted in vision loss. Vision has improved but the optic nerve is damaged. Now, sometimes he gets irritation in his left eye, which becomes red. The doctors told us that he is suffering from MELAS syndrome. How can his eyesight be improved? The doctor told us to apply Lacrygel ointment in both eyes.

A:Your child has been diagnosed with a mitochondrial disorder called MELAS (Mitochondrial Encephalopathy with Lactic Acidosis and Stroke like episodes). Mitochondria are energy producing substances that are present in the cell. Disorders of the mitochondria result in decreased energy production resulting in dysfunction of the cells, a large number of metabolic processes that require energy and organs like the brain, muscles, endocrine organs which require more energy are most affected. This is a genetic disorder and diagnosis is best established with a muscle biopsy with the appropriate muscle staining (SDH, COX stains and trichrome Gomori stains). Not all pathology labs are competent to do this. Positivity by testing for mtDNA mutations is low.

Treatment should include proper diet and fluids. Moderate exercises are helpful. Substances like Coenzyme Q, Creatinine, Riboflavin, and carnitine should be tried. As MELAS can affect many organs like nerves, heart, liver, endocrine glands etc, appropriate screening tests are advised.


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