Myoclonusandseizures inprogressivemyoclonus epilepsies. Myoclonus that is refractory to trials of appropriate antiseizure medication. Traitements pour lepilepsie clinique depilepsie neuro rive. Elle debute generalement entre 12 et 19 ans chez des jeunes gens sans aucun antecedent particulier. Consequences et evolution des crises depilepsie dossier. Epilepsie myoclonique progressive atrophie dentatorubropallidoluysienne epilepsies myocloniques progressives. Over the last two decades, considerable developments have occurred in. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. People with pme have a decline in motor skills, balance and cognitive function over time. Progressive myoclonus epilepsy pme refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. However, despite extensive evaluation, the cause of progressive myoclonus epilepsy may remain unknown in some patients.
The international league against epilepsy ilae diagnostic manuals goal is to assist clinicians who look after people with epilepsy to diagnose the epilepsy syndrome and if possible the etiology of the epilepsy. Anatomie humaine concernant organigramme du mouvement. Progressive myoclonus epilepsy pme is a rare epilepsy syndrome caused by a variety of genetic disorders. Generalized convulsive seizures are often well controlled through classic antiepileptic drugs aeds like valproate and clonazepam, whereas myoclonus, the main symptom that is affecting patients most in their daily life, is usually refractory to standard aeds.
Progressive myoclonic epilepsy genetic and rare diseases. The progressive myoclonic epilepsies pmes are a group of symptomatic generalised epilepsies caused by rare disorders, most of which have a genetic component, a debilitating course, and a poor outcome. This umbrella term encompasses many diverse conditions, ranging from lafora body disease to gauchers disease. These diseases as a group are important because of a generally poor response to. A clinical, electrophysiologica and pathological study from sout indias sinha et al neurology asia 2004. Feb 04, 2014 a frequent positive family history in this group also supports the possibility that pme is a recessive trait in these patients, perhaps including a myoclonic variant of progressive cerebellar disease previously observed in a few families and individual subjects, 25, 27 or a late phenotype of yet unknown genetic disorders. Recent advances have clarified the features of these disorders and provided a rational approach to diagnosis.
Myoclonus indicates frequent muscle jerks, both spontaneous and often stimulus induced. Epilepsies myocloniques des encephalopathies non progressives. Lepilepsie, une maladie refuge dautres petits sites pour telecharger des ebooks gratuits en bonus lepilepsie, une maladie refuge telecharger vos ebooks gratuitement en libre partage en format epub, pdf et utiliser votre lisseuse preferee pour les lire. Nous rapportons 6 cas dune forme particuliere depilepsie myoclonique symptomatique dencephalopathie non progressive. The treatment of progressive myoclonus epilepsy pme remains a major therapeutic challenge in neurology. The disorder has been linked to mutations in the cystatin b emp1 gene. Progressive myoclonic epilepsy linkedin slideshare. Progressive myoclonic epilepsy pme is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. Progressive myoclonic epilepsy satishchandra p, sinha s. The progressive myoclonic epilepsies comprise a devastating group of rare disorders that manifest with worsening action myoclonus. The major causes of pme are now known to be unverrichtlundborg disease, myoclonus epilepsy raggedred fiber. This manuscript is an overview of the clinical and. The syndrome includes myoclonic seizures and tonicclonic seizures together with progressive neurological decline. It encompasses several diagnostic entities and often causes diagnostic problems leading to nosological confusion.
Six signes cliniques pour suspecter une pseudocrise d. Ils sont nombreux, et les principaux et les mieux identifies sont presents dans les grandes fonctions du systeme nerveux cerebro spinal. Progressive myoclonic epilepsies epilepsy foundation. The progressive myoclonic epilepsies pmes are a group of symptomatic generalised epilepsies caused by rare disorders, most of which have a genetic component, a debilitating course, and a poor. Lepilepsie juvenile myoclonique est lune des formes les plus frequentes depilepsie, concernant 7 a 10 % des adolescents et des adultes epileptiques. Jun 26, 2010 progressive myoclonic epilepsy pme is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. Many metabolic and genetic causes of progressive myoclonus epilepsy exist, and specific etiologies often present at certain ages. Epilepsie myoclonique progressive maladie dunverrichtlundborg. However, advances in molecular genetics have enabled better understanding of the pathogenesis of these diseases, bringing hope for improved treatment options in the future. Telecharger lepilepsie, une maladie refuge livre pdf online. Progressive myoclonic epilepsies pme are a group of more than 10 rare types of epilepsy that are progressive.
Il y a plusieurs alternatives pour traiter lepilepsie. May 19, 2011 progressive myoclonus epilepsy pme refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. Epilepsie et conduite automobile neurologie pratique. Most cases originate from the scandanavian or baltic regions of europe. Progressive myoclonic epilepsies are a group of disorders characterised by a relentlessly progressive disease course until death. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions and seizures. Il y a 16 ans, valerie le gall donnait naissance a judikael. This disease is the commonest cause of progressive myoclonus epilepsy, presenting with seizures before 18 years of age. Onset any age usually in late childhood or adolescence. The progressive myoclonic epilepsies pme are a rare group of inherited neurodegenerative diseases with debilitating evolution, resistance to treatment and poor prognosis. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions myoclonus and seizures epilepsy. Nishtha jain senior resident department of neurology gmc, kota. The syndrome of pme consists of myoclonic seizures, tonicclonic seizures, and progressive neurologic dysfunction, particularly ataxia and dementia. Pdf familial benign nonprogressive myoclonic epilepsies.
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