Scientific Background: Mitochondrial myopathies can be hereditary or acquired and generally seen before 20 years old. Multisystem involvement, ophtalmoplegia, exercise intolerance are the most common symptoms. Can be found in Kearns-Sayre, MELAS, MERRF, NARP, MNGIE, CPEO subtypes.
Objective: The case who could not be investigated genetically and who was diagnosed as mitocondrial myopathy after the biopsy; made us think about CPEO and MNGIE association with clinically findings like progressive ophtalmoplegia , gastrointestinal and autonomic involvements.The case is reported to emphasize the possibility of the coexistence of mitochondrial myopathy subgroups.
Case: 33 years old male case examined with findings of hoarseness, cataract, exercise intolerance, progressive proximal muscle weakness, bilaterally ptosis, nasal voice, dysphagia, vomiting, diarrhea, vertigo and syncope. The case was consequent with mitochondrial myopathy with history and results of laboratory, electrophysiological, imaging techniques and biopsy.
Conclusion: Biochemical analysis and tissue genetic analysis are necessary to determine subgroups of mitochondrial myopathies. Nevertheless, there are no certain treatment for mitochondrial myopathies currently.It is important to raise awareness of patients about this group of life threatening diseases and early diagnosis is importent.
Key Words; Chronic Progressive External Ophthalmoplegia, Mitochondrial Myopathy, RRF
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