Mitochondrial Encephalomyopathies
| Definition: |
A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) |
| Notes: |
GEN or unspecified; prefer specifics; coord with specific dysfunction if pertinent; DF: MITOCHONDRIAL ENCEPH |
| Previously Indexed: |
Brain Diseases, Metabolic (1977-1992),Mitochondria, Muscle (1977-1992),Neuromuscular Diseases (1977-1992) |
Mitochondrial Encephalomyopathies Categories.
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MELAS Syndrome - A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117) |
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MERRF Syndrome - A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986) |
Mitochondrial Encephalomyopathies Definitions and Terms
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