Abstract
Mitochondrial disorders are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain. Muscle tissue is highly metabolically active, and therefore myopathy is a common element of the clinical presentation of these disorders, although this may be overshadowed by central neurological features. This review is aimed at a general medical and neurologist readership and provides a clinical approach to the recognition, investigation, and treatment of mitochondrial myopathies. Emphasis is placed on practical management considerations while including some recent updates in the field.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Biopsy
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Cytochrome-c Oxidase Deficiency / complications
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Deglutition Disorders / complications
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Dietary Supplements
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Endocrine System Diseases / complications
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Endocrine System Diseases / drug therapy
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Exercise Test
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Exercise Therapy
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Hearing Disorders / complications
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Heart Diseases / complications
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Heart Diseases / diagnosis
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Heart Diseases / drug therapy
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Humans
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Mitochondrial Myopathies / complications
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Mitochondrial Myopathies / diagnosis*
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Mitochondrial Myopathies / enzymology
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Mitochondrial Myopathies / therapy*
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Muscle, Skeletal / enzymology
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Muscle, Skeletal / pathology*
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Ubiquinone / analogs & derivatives*
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Ubiquinone / deficiency
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Ubiquinone / therapeutic use
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Vision Disorders / complications
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Vitamins / therapeutic use
Substances
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Vitamins
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Ubiquinone
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coenzyme Q10