progressive myoclonic epilepsies oor Spaans
progressive myoclonic epilepsies
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epilepsias mioclónicas progresivas
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The case of a 17 -year mental retardation and myoclonic epilepsy progressive degenerative with findings in neuroimaging disease white matter associated with metabolic abnormalities are reported, which is consistent with a picture of glutaric aciduria type 1, this diagnosis is supported in the patient, by the favorable therapeutic response.
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Progressive myoclonic epilepsy: This form of epilepsy is characterized by a combination of myoclonic and tonic-clonic seizures.
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Key words: status epilepticus, progressive myoclonic epilepsy, Lafora’s disease
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Summary Progressive myoclonic epilepsy (PME) is characterized by the occurrence of myoclonus, which appear as muscular twitching of the face, head, front limbs and trunk.
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common types of progressive myoclonic epilepsy in South Europe, especially in Spain. Its onset is between 10 and 18 years old, with myoclonus which can be segmentary, erratic, intentional and associated frequently with focal occipital seizures.
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disease constitutes one of the most common types of progressive myoclonic epilepsy in South Europe, especially in Spain. Its onset is between 10 and 18 years old, with myoclonus which can be segmentary, erratic, intentional and associated frequently with focal occipital seizures.
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We present a cause of progressive myoclonic epilepsy, with an ominous prognosis and a treatment oriented to palliative measures, so it is important to analyze the differential diagnoses with other entities, in order to establish a prognosis, offer better quality of life, adequate medical care and provide genetic counseling to family members.
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For example, Lafora disease, a severe, progressive form of myoclonic epilepsy that begins in childhood, has been linked to a gene that helps to break down carbohydrates in brain cells.
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Progressive myoclonic (twitching of one or more muscles) epilepsies
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Myoclonic epilepsy with ragged red fibers, dementia, ataxia, and pancreatic insufficiency, and progressive liver disease that begins in the first few months of life and is frequently fatal in infants
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Diseases such as Kearns-Sayre syndrome, Pearson's syndrome, and progressive external ophthalmoplegia are thought to be due to large-scale mtDNA rearrangements, whereas other diseases such as MELAS syndrome, Leber's hereditary optic neuropathy, myoclonic epilepsy with ragged red fibers (MERRF), and others are due to point mutations in mtDNA.[117]
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