Mitochondrial Myopathies

İlknur SÜRÜCÜ KARAa , Fatma Tuba EMİNOĞLUa

aAnkara University Faculty of Medicine, Department of Pediatric Metabolism Diseases Ankara, Türkiye

ABSTRACT
Mitochondrial myopathies can manifest at any age, and patients can present with such symptoms as muscle weakness (often proximal), progressive external ophthalmoplegia, exercise intolerance, fatigue and rhabdomyolysis. Myopathy may be isolated or a part of the syndrome in patients exhibiting conditions indicative of mitochondrial disease, including early-onset diabetes, heart disease, hearing loss, ptosis, retinopathy, and ophthalmoparesis. Therefore, the assessment of the medical history of each myopathy patient with mitochondrial diseases in mind could aid in the determination of the optimum diagnostic approach. Riboflavin therapy has proven to be beneficial for some patients diagnosed with ACAD9 (mitochondrial complex I deficiency, nuclear type 20), while deoxynucleoside treatment has shown benefits for patients diagnosed with myopathies resulting from Electron transfer flavoprotein dehydrogenase and Thymidine kinase 2 deficiencies. The benefits of proper exercise have also been proven, and the results of studies of the drug elemipretide are promising. For patients with reversible mitochondrial myopathy, the prognosis is favorable following recovery from the severe symptomatic phase, and although treatments have not yet been proven to be curative in mitochondrial myopathies, clinical care has been shown to improve quality of life, and aid in the monitoring of progression and the identification of asymptomatic patients.
Keywords: Mitochondrial myopathies; pathological conditions, signs and symptoms; diagnosis

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