Myoclonic epilepsy, ragged red fibres (Q95631): Difference between revisions
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A epilepsia mioclônica associada a fibras vermelhas rotas (MERRF) é uma doença mitocondrial rara. As manifestações típicas da doença são mioclonia, epilepsia generalizada, ataxia cerebelar e fibras vermelhas irregulares na biópsia muscular. Mutações de ponto no gene RNAt Lisina do DNA mitocondrial, principalmente A8344G, são responsáveis por quase 90% dos casos de MERRF. As alterações morfológicas observadas na biópsia muscular incluem uma proporção significativa de fibras vermelhas rasgadas, fibras musculares mostrando uma atividade deficiente da citocromo c oxidase e a presença de vasos com uma forte reação para succinato desidrogenase e deficiência da citocromo c oxidase. | |||
| description / en | description / en | ||
Myoclonic epilepsy associated with ragged red fibres (MERRF) is a rare mitochondrial disorder. Typical manifestations of the disease are myoclonus, generalised epilepsy, cerebellar ataxia and ragged red fibres on muscle biopsy. Point mutations in the tRNA Lys gene of the mitochondrial DNA, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy include a substantive proportion of ragged red fibres, muscle fibres showing a deficient activity of Cytochrome c oxidase and the presence of vessels with a strong reaction for succinate dehydrogenase and Cytochrome c oxidase deficiency. | |||
Revision as of 11:26, 16 August 2026
Myoclonic epilepsy associated with ragged red fibres (MERRF) is a rare mitochondrial disorder. Typical manifestations of the disease are myoclonus, generalised epilepsy, cerebellar ataxia and ragged red fibres on muscle biopsy. Point mutations in the tRNA Lys gene of the mitochondrial DNA, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy include a substantive proportion of ragged red fibres, muscle fibres showing a deficient activity of Cytochrome c oxidase and the presence of vessels with a strong reaction for succinate dehydrogenase and Cytochrome c oxidase deficiency.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1630114989 |
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| English | Myoclonic epilepsy, ragged red fibres |
Myoclonic epilepsy associated with ragged red fibres (MERRF) is a rare mitochondrial disorder. Typical manifestations of the disease are myoclonus, generalised epilepsy, cerebellar ataxia and ragged red fibres on muscle biopsy. Point mutations in the tRNA Lys gene of the mitochondrial DNA, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy include a substantive proportion of ragged red fibres, muscle fibres showing a deficient activity of Cytochrome c oxidase and the presence of vessels with a strong reaction for succinate dehydrogenase and Cytochrome c oxidase deficiency. |
