Naslov
Progressive myoclonus epilepsies – clinical challenges

Autori
Petelin Gadže, Željka ; Nanković, Sibila ; Šulentić, Vlatko ; Poljaković, Zdravka ; Bujan Kovač, Andreja ; Nimac Kozina, Petra ; Đapić Ivančić, Biljana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Neurologia Croatica / - Zagreb : Denona, 2022, 30-30

Skup
2. Međunarodni kongres neuroloških bolesti i restauracije

Mjesto i datum
Dubrovnik, Hrvatska, 19.05.2022. - 22.05.2022

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
progressive myoclonus epilepsy, treatment

Sažetak
Progressive myoclonus epilepsies (PMEs), one of the most serious epilepsies syndromes, are a group of uncommon clinically and genetically heterogeneous disorders. They are characterized by myoclonus, generalized tonic-clonic seizures, with progressive neurological deterioration, including dementia and ataxia. The history of PMEs spans more than a century, however, the recent history begins with Marseille Consensus Group in 1990. PMEs usually present in late childhood or adolescence, at variance from epileptic encephalopathies, which start with polymorphic seizures in early infancy. Many metabolic and genetic causes of PMEs exist and the gene defects for most PMES (Unverricht-Lundborg disease, Lafora disease, neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers, type 1 and 2 sialidoses, dentatorubral-pallidoluysian atrophy) have been identified. Despite advances in various extensive diagnostic methods, especially molecular genetic, PMEs still represent a major diagnostic challenge. The prognosis of a PME depends on the specific disease, and treatment remains essentially symptomatic of seizures and myoclo nus (valproate, levetiracetam and benzodiazepines are invariably the initial therapeutic approach), together with palliative, supportive and rehabilita tive measures. However, different drugs usually fail in managing all the disabling clinical symptoms and promising adjunctive therapeutic approaches come from the neuromodulation field. The future of PME treatment is precision medicine therapies addressing the etiology, and further efforts of researchers should be directed towards the identification of new drugs that act on specific pathogenic mechanisms. or activation of mutated protein, or gene replacement therapy of non-functional protein. The author will present challenges in treating patients with PME in the Clinical Hospital Centre Zagreb.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA