Mitochondrial myopathies
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Mitochondrial myopathies. Myoclonic Epilepsy with Ragged Red Fibers (MERRF), Kearns Sayre syndrome (KSS). Fully referenced neurology checklist.
Causes of mitochondrial myopathy
- Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS)
- Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
- Kearns Sayre syndrome (KSS)
- Chronic progressive external ophthalmoplegia (CPEO)
- Leigh syndrome
- Long-term Zidovudine therapy
Clinical features
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Associated features
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Differential diagnosis
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Blood tests
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Muscle biopsy
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Treatments
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Drugs to avoid
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References
- Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE. Diagnosis and treatment of mitochondrial myopathies. Neurotherapeutics 2018; 15:943-953.
- van Adel BA, Tarnopolsky MA. Metabolic myopathies: update 2009. J Clin Neuromuscul Dis 2009; 10:97-121.
- Dalakas MC, Illa I, Pezeshkpour GH, Laukaitis JP, Cohen B, Griffin JL. Mitochondrial myopathy caused by long-term zidovudine therapy. N Engl J Med 1990; 322:1098-1105.
- Olimpio C, Tiet MY, Horvath R. Primary mitochondrial myopathies in childhood. Neuromuscul Disord 2021; 31:978-987.
- Schoser BG, Pongratz D. Extraocular mitochondrial myopathies and their differential diagnosis. Strabismus 2006; 14:107-113.
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