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Progressive Myoclonic Epilepsies (PME) are … Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients. The prognosis depends largely on the worsening symptoms and failure to respond to treatment. There is no current cure for PME and treatment focuses on managing myoclonus and seizures through antiepileptic medication (AED). The age of onset depends on the specific PME but PME can affect people of all ages. In Unverricht-Lundborg disease (ULD) the age of onset is between 6–15 years, while in Adult Neuronal ceroid lipofuscinoses (Adult NCL) the age of onset can be as late as 30. Symptoms often include action or stimuli induced myoclonus, seizures, neuropathy, cognitive decline, and spike and wave or no cerebral discharges. The prognosis of those diagnosed with PME is poor. The person often becomes reliant on a wheelchair, enters a vegetative state due to myoclonus, and has a shortened life expectancy.onus, and has a shortened life expectancy.
, L'epilessia mioclonica progressiva è una sindrome epilettica rara, causata da una varietà di disturbi genetici. La sindrome comprende crisi miocloniche e crisi tonico-cloniche insieme a declino neurologico progressivo.
, Progressive Myoklonusepilepsien, kurz PME, … Progressive Myoklonusepilepsien, kurz PME, sind eine Gruppe von Erbkrankheiten, deren gemeinsames Merkmal das Auftreten von Myoklonien und epileptischen Anfällen ist. Myoklonien sind rasche unwillkürliche Muskelzuckungen. Die epileptischen Anfälle treten als tonisch-klonische, generalisierte oder multifokale Anfälle auf. Bei den meisten progressiven Myoklonusepilepsien handelt es sich um Krankheiten mit schwerem Krankheitsverlauf und schweren Beeinträchtigungen.tsverlauf und schweren Beeinträchtigungen.
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Progressive Myoklonusepilepsien, kurz PME, … Progressive Myoklonusepilepsien, kurz PME, sind eine Gruppe von Erbkrankheiten, deren gemeinsames Merkmal das Auftreten von Myoklonien und epileptischen Anfällen ist. Myoklonien sind rasche unwillkürliche Muskelzuckungen. Die epileptischen Anfälle treten als tonisch-klonische, generalisierte oder multifokale Anfälle auf. Bei den meisten progressiven Myoklonusepilepsien handelt es sich um Krankheiten mit schwerem Krankheitsverlauf und schweren Beeinträchtigungen.tsverlauf und schweren Beeinträchtigungen.
, L'epilessia mioclonica progressiva è una sindrome epilettica rara, causata da una varietà di disturbi genetici. La sindrome comprende crisi miocloniche e crisi tonico-cloniche insieme a declino neurologico progressivo.
, Progressive Myoclonic Epilepsies (PME) are … Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients. The prognosis depends largely on the worsening symptoms and failure to respond to treatment. There is no current cure for PME and treatment focuses on managing myoclonus and seizures through antiepileptic medication (AED).es through antiepileptic medication (AED).
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Progressive myoclonus epilepsy
, Epilessia mioclonica progressiva
, Progressive Myoklonusepilepsie
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