MITOCHONDRIAL MYOPATHIES

MITOCHONDRIAL MYOPATHIES is a topic covered in the Harrison's Manual of Medicine.

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More accurately referred to as mitochondrial cytopathies because multiple tissues are usually affected, these disorders result from defects in mitochondrial DNA. Clinical presentations vary greatly: muscle symptoms may include weakness, ophthalmoparesis, pain or stiffness, or they may even be absent; age of onset ranges from infancy to adulthood; associated clinical presentations include ataxia, encephalopathy, seizures, stroke-like episodes, and recurrent vomiting. Three groups: chronic progressive external ophthalmoplegia (CPEO); skeletal muscle–central nervous system syndromes; and pure myopathy syndromes simulating muscular dystrophy. The characteristic finding on muscle biopsy is “ragged red fibers,” which are muscle fibers with accumulations of abnormal mitochondria. Affected families often have a maternal pattern of inheritance because mitochondrial genes are inherited almost exclusively from the oocyte.

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