Mitochondrial Myopathies
| Definition: |
A group of muscle diseases associated with abnormal mitochondria function. |
| Notes: |
GEN or unspecified; prefer specifics; NARP syndrome (neuropathy, ataxia and retinitis pigmentosa) = MITOCHONDRIAL MYOPATHIES + ATAXIA + RETINITIS PIGMENTOSA + SYNDROME |
| Also Called: |
Luft Disease,Megaconial Myopathies,Pleoconial Myopathies |
| Previously Indexed: |
Mitochondria, Muscle (1968-1992),Muscular Diseases (1968-1992) |
Mitochondrial Myopathies Categories.
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Mitochondrial Encephalomyopathies - 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) |
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Ophthalmoplegia, Chronic Progressive External - A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) |
Mitochondrial Myopathies Definitions and Terms
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