Perioral Reflex Myoclonias: A Controlled Study in Patients with JME and Focal Epilepsies (original) (raw)
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Clinical study of myoclonic epileptic syndromes
International Journal of Advances in Medicine, 2016
Background: Incidence of different myoclonic epileptic syndromes is variable in different regions. Here in as there is very few literature available internationally being inclusive of all myoclonic epilepsies together. Very few studies are available which describe all characteristics in a given study population. The aim of the study was to find incidence of different types of myoclonic epilepsies among patients presenting with myoclonic seizures their characteristics and to study all myoclonic epilepsies and juvenile myoclonic epilepsy in the study population. Methods: In this study conducted in neurological unit at Ruby hall clinic, a total of 188 case of epileptic disorder were enrolled irrespective of age and sex, among 136 were new case of epileptic disorder were classified based on seizure pattern, 23 were new cases of myoclonic epilepsy, these 23 new case of myoclonic epilepsy along with 52 old cases of myoclonic epilepsy attending to neurological unit were clubbed, a total of 75 cases myoclonic epilepsy were studied. All cases of myoclonic epilepsy and juvenile myoclonic epilepsy were studied with respect to age of onset different seizures, relation with family history, response to treatment, EEG findings. Results: Out of 136 cases 23 were new cases of myoclonic epilepsy, these 23 newly diagnosed cases of myoclonic epilepsies along with 52 already diagnosed myoclonic epilepsy are clubbed together, total of 75 cases were further studied. Incidence of myoclonic epilepsy among epileptic patients found to be 16.9%. Incidence of JME among myoclonic epilepsies is 75-80%, in all myoclonic epilepsies and JME association with GTCS, family history, EEG abnormalities were common finding, valproate and leviteracetam are good therapeutic options, carbamazepine aggravated myoclonus. Conclusions: For diagnosis of myoclonic epilepsy proper clinical history stress laid to ask history of myoclonic jerk in case of all seizure disorder, diagnosis basically depends on proper knowledge of myoclonic epileptic syndrome, eliciting history, EEG as an ancillary testing when in doubt always expert opinion is required as misdiagnosis of the myoclonus as partial seizure leads to wrong prescription of carbamazepine which exacerbates the myoclonus.
Journal of the Neurological Sciences, 2001
Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epileptic syndrome distinctively characterized by myoclonic jerks often associated to generalized tonic-clonic seizures (GTCS) and typical absence seizures. In spite of typical clinical and EEG profiles, JME is widely underdiagnosed. In the present study we retrospectively revised clinical and EEG data of JME patients referring to our Epilepsy Service. A diagnosis of JME could be made in 63 patients, that is 5.7% of all the epileptic patients referring to our Service and 25.9% of those suffering from an idiopathic generalized epilepsy. General features as well as modality of onset and course of the syndrome of our JME subjects were in accordance with literature. Regarding EEG findings, asymmetries were detected in 38.1% of cases. At referral to our Service only 31.7% of JME patients were correctly diagnosed. Main factors responsible for misdiagnosis were failure in eliciting a history of myoclonic jerks and misinterpretation of myoclonic jerks as simple partial seizures. EEG asymmetries were misleading in 13 patients. In conclusion, a correct JME diagnosis is strictly dependent on the knowledge of the syndrome leading the interviewer to look for and correctly interpret myoclonic jerks whereas EEG is just an ancillary diagnostic tool.
Epilepsy Research, 2014
Purpose: To describe the clinical and electroencephalographic (EEG) features of reflex myoclonic epilepsy in infancy (RMEI) and long-term cognitive outcome. Methods: We enrolled 31 children from 16 neuropediatric centres in Italy, who underwent clinical and video-EEG evaluation. Cognitive assessment was performed in all patients using standardized psychometric tests. Results: The age at onset ranged from 3 to 24 months of age. Seizures were characterised in all patients by symmetric myoclonic seizures (MS), triggered by sudden unexpected acoustic (38.7%) or tactile stimuli (29%) or both (29%). Spontaneous attacks were reported in 32.2% of the cases. Ictal EEG showed generalized high-amplitude 3 Hz polyspike and wave discharges, synchronous with brief rhythmic bursts of electromyographic activity. Patients were re-evaluated after a period of 7.2 ± 5.6 years. The prognosis for seizure control was excellent in all cases and reflex MS disappeared spontaneously or after valproate treatment. The cognitive outcome was excellent in 90.3% of children.
Reflex myoclonic epilepsy in infancy: A multicenter clinical study
Epilepsy Research, 2013
Purpose: To describe the clinical and electroencephalographic (EEG) features of reflex myoclonic epilepsy in infancy (RMEI) and long-term cognitive outcome. Methods: We enrolled 31 children from 16 neuropediatric centres in Italy, who underwent clinical and video-EEG evaluation. Cognitive assessment was performed in all patients using standardized psychometric tests. Results: The age at onset ranged from 3 to 24 months of age. Seizures were characterised in all patients by symmetric myoclonic seizures (MS), triggered by sudden unexpected acoustic (38.7%) or tactile stimuli (29%) or both (29%). Spontaneous attacks were reported in 32.2% of the cases. Ictal EEG showed generalized high-amplitude 3 Hz polyspike and wave discharges, synchronous with brief rhythmic bursts of electromyographic activity. Patients were re-evaluated after a period of 7.2 ± 5.6 years. The prognosis for seizure control was excellent in all cases and reflex MS disappeared spontaneously or after valproate treatment. The cognitive outcome was excellent in 90.3% of children.
Epilepsia, 2012
Purpose: Previous studies have suggested that cognitive tasks modulate (provoke or inhibit) the epileptiform electroencephalography (EEG) discharges (EDs) in patients with juvenile myoclonic epilepsy (JME). Their inhibitory effect was found to be especially frequent (64-90%). These studies arbitrarily defined modulation as a >100% increase or >50% decrease of the EDs compared with baseline, which may not sufficiently distinguish from spontaneous fluctuations. The aim of our study was to assess the modulation of EDs and the precipitation of myoclonic seizures by cognitive tasks and by conventional provocation methods, taking into account also the spontaneous fluctuation of EDs. Method: Sixty patients with JME underwent video-EEG recordings including 50-min baseline, sleep, hyperventilation, intermittent photic stimulation (IPS), and cognitive tasks. To account for spontaneous fluctuations of the EDs we divided the baseline period into 5-min epochs and calculated the 95% confidence interval for the baseline EDs in each patient. Modulation was assumed when the number of EDs during any 5-min test period was outside the 95% confidence interval.
Phenotyping juvenile myoclonic epilepsy. Praxis induction as a biomarker of unfavorable prognosis
Seizure, 2015
Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy (IGE); comprising 5-10% of all epilepsies [1]. The cardinal symptoms are myoclonic jerks of upper extremities; often precipitated by sleep deprivation [2,3]. Chronosensitivity is necessary for diagnosis. Occurrence of myoclonia exclusively on or after awakening and age of onset between 10 and 25 years are considered Class I diagnostic criteria while Class II comprises myoclonia occurring predominantly on or after awakening; sensitivity to visual stimuli; praxis induction (PI) and a wider 6-25 years range for onset of epilepsy [4]. Generalized tonic-clonic seizures (GTCS) are present in approximately 80-95% of patients and one third has absences [2]. Recently; data regarding long term prognosis of JME have been published [5-10]. Despite the recognition of some prognostic predictors such as presence of all three types of seizures; psychiatric comorbidity and drug resistance [10-13]; clinical diversity of JME is remarkable and the severity of the disorder itself has only rarely been analyzed [14-16]. PI, one of the four reflex epileptic traits that occur in JME, is defined as precipitation of seizures or epileptiform discharges (ED)
Reflex myoclonic epilepsy in infancy: a critical review
Epileptic disorders : international epilepsy journal with videotape, 2013
Benign myoclonic epilepsy in infancy, classified among the generalised idiopathic epilepsies, is characterised by the occurrence of myoclonic seizures in the first three years of life in otherwise normal infants. Some authors have described cases of myoclonic seizures as a reflex response to sudden unexpected tactile or acoustic stimuli and this clinical entity has been proposed as a separate nosographic syndrome, referred to as "reflex myoclonic epilepsy in infancy" (RMEI). We reviewed all published articles and case reports on RMEI in order to clarify clinical and electroencephalographic findings, with particular attention to outcome and treatment. RMEI appears to be a benign variant of idiopathic myoclonic epilepsy in infancy with specific features that occur in neurologically and developmentally normal children. This rare clinical entity is often under-described and under-diagnosed, and for this reason should be brought to the attention of paediatricians in order to av...
Generalised electrographic seizures presenting as perioral myoclonia
Epileptic disorders : international epilepsy journal with videotape, 2014
A 41-year-old man, during a neurological consultation, reported "chin twitching" over a period of a week, which was diagnosed as intermittent perioral myoclonia. With only one tonic-clonic seizure seven years before, he had mentioned several episodes of chin twitching over the years. In the clinic, there were intermittent chin movements without apparent confusion, as he was able to provide a complete history and was fully oriented with intact memory. His video-EEG showed paroxysms of polyspike and slow-wave activity, with the longest burst-free interval being 20 seconds. Discharges were maximal over the fronto-central regions, correlating with the chin myoclonus. He was able to tap his hand continuously, and remained alert. The case represents an atypical presentation of idiopathic generalised epilepsy without manifestation of absence or limb myoclonus. Although juvenile myoclonic epilepsy and other idiopathic epilepsies are rarely associated with perioral myoclonia, this ...