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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, has a distinct clinical and electroencephalographic profile. Often JME is not recognized, with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis even in an epilepsy clinic. Of 70 JME patients, 66 (91.4%) were not diagnosed on referral and 22 (33%) were not initially recognized in the epilepsy clinic. The correct diagnosis was established after a mean of 8.3 +/- 5.5 years from disease onset and an interval of 17.7 +/- 10.4 months from first evaluation in the epilepsy clinic. Myoclonic jerks, the hallmark of the disease, were not usually reported by patients. Similarly, relevant questioning may not be included in the history. Absence seizures antedating jerks by many years, myoclonic jerks reported as unilateral, generalized tonic-clonic seizures occurring during sleep and focal EEG abnormalities are other factors contributing to not recognizing JME. Our study reemphasizes the need to have not only a correct seizure diagnosis but also a correct epilepsy-disease diagnosis.
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PMID:Juvenile myoclonic epilepsy: factors of error involved in the diagnosis and treatment. 191 75

Within generalized epilepsy, the syndrome of epilepsy with myoclonic absences is considered as intermediate between idiopathic and symptomatic forms. This syndrome is characterized by developing in childhood with a male predominance. Critical EEG shows paroxysms of PO at 3 Hz, and in the polygraphic recording rhythmic 3 Hz myoclonus is observed with a strict correspondence between EEG spike and myoclonus. The response to therapy is generally poor, and 18% develop generalized symptomatic epilepsy. We report 3 patients with epilepsy with myoclonic absences and good outcome, to emphasize the importance of a precise diagnosis by means of the polygraphic recording of the attack, the fact the association of sodium valproate and ethosuximide is the most useful therapy and, finally, the possibility that some patients with epilepsy with myoclonic absence may develop Janz's juvenile myoclonic epilepsy.
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PMID:[Epilepsy with myoclonic absences]. 212 43

This is a comparative video-electroencephalographic (EEG) study of typical absence seizures in 4 epileptic syndromes. In 20 patients, 224 absences were recorded and analysed. Significant clinical and EEG differences were found in the seizure patterns of childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy with absences (JMEA) and myoclonic absence epilepsy (MAE). Clinically, CAE demonstrated more severe impairment of consciousness than JAE while, in JMEA, ictal manifestations were frequently mild and difficult to detect. In the latter, the adolescent patient usually continued his activity, was able to perform even mathematical calculations and often his speech was not disturbed. In children with JMEA, impairment of consciousness was more apparent and sometimes severe. Automatisms occurred in all 4 epileptic syndromes and were proportional to the severity of the demonstrated impairment of consciousness, being rare in JMEA but frequent in CAE and JAE. Expressive speech and overbreathing usually persisted for 1-2 s after the onset of the EEG ictal discharge in CAE. It was less disturbed in JAE where in some absence seizures, interrupted speech and overbreathing were restored during the ictus. A characteristic clinical manifestation of CAE was opening of the eyes in all absence seizures within 1.8 +/- 0.6 s (max. 2.5 s) from the onset of the EEG paroxysms. This early eye-opening behaviour was not observed in JMEA. In MAE, rhythmical myoclonic jerks at 3 Hz make the diagnosis unmistakable. Myoclonic jerks were extremely rare in the absences of JMEA, although all patients had independent myoclonic jerks on awakening. The ictal EEG discharge was longer in JAE (mean 16.3 +/- 7.1 s) than in CAE (12.4 +/- 2.1 s) or JMEA (6.6 +/- 4.2 s). The opening phase of the EEG paroxysms did not show significant differences in CAE, JAE and JMEA but significant changes were found in their initial and terminal ictal phases. In JMEA, the spike-multiple spike-slow wave complexes were not rhythmic and frequently demonstrated variable spike-slow wave relationships. Ictal discharge fragmentations and spike-wave discharges looking like compressed capital Ws were often seen and are characteristic of JMEA. seen and are characteristic of JMEA. Absence seizures demonstrated a more severe impairment of expressive rather than receptive speech, irrespective of differences between syndromes. Evoked as well as spontaneous automatisms occurred in the same patients.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Differentiation of typical absence seizures in epileptic syndromes. A video EEG study of 224 seizures in 20 patients. 250 85

The clinical and electroencephalographic features of 10 adolescents with juvenile myoclonic epilepsy are presented. The mean age on onset was 12.3 years. Myoclonic jerks, predominantly on awakening, occurred in all 10 and were associated with infrequent generalised tonic-clonic seizures in nine. Five had first degree relatives with seizures. The neurodevelopmental status was normal in eight and social integration good in seven. Waking interictal electroencephalograms showed normal background activity in nine, polyspike and wave in six, and single spike and wave in eight. Four were photosensitive. Failure to respond to other antiepileptic drugs was usual, but valproate monotherapy resulted in good or complete seizure control. Juvenile myoclonic epilepsy is a well defined clinical entity that responds well to valproate and is usually associated with a good outlook.
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PMID:Juvenile myoclonic epilepsy. 314 Jul 37

Twelve patients with benign juvenile myoclonic epilepsy (BJME) representing 4% of our population of epileptics (n = 275) are presented. Only two patients (17%) had myoclonic jerks as the only seizure type. Seven (58%) had generalized tonic-clonic seizures (GTCS) and myoclonus. Three patients (25%) had absence seizures (AS), GTCS, and myoclonic jerks. Electroencephalographic evidence of photosensitivity was found in four (33%). Auditory precipitation of seizures was found in one patient. As is the case with other primary generalized epilepsies, the onset of BJME seems to be age specific. In our series the mean age of onset in years was 4.3 for AS, 14.75 for myoclonic jerks, and 16.4 for GTCS. It took an average of 8.5 years from the onset of BJME (range, 2-20 years) and 6.5 years from the onset of GTCS (range, 2 months-6 years) until the condition was properly recognized. Five patients experienced at least one episode of myoclonic status epilepticus. Generalized, paroxysmal, symmetric polyspike and slow wave discharges are the typical EEG finding. These complexes, however, showed considerable interpatient variability. Sleep deprivation proved to be the most valuable activating procedure. Valproic acid monotherapy effectively controlled myoclonic jerks as well as associated GTCS in most patients.
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PMID:Some clinical and EEG aspects of benign juvenile myoclonic epilepsy. 642 Jan 45

Juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalized tonic-clonic seizures (GTCS) on awakening are the three syndromes of idiopathic generalized epilepsy of adolescent onset currently included in the classification of epilepsy syndromes of the International League Against Epilepsy (ILAE). Although they differ in their predominant seizure types, the syndromes share several clinical features, thus giving rise to questions of phenotypic overlap and purity. We studied the clinical features of 101 patients with idiopathic generalized epilepsy beginning in adolescence. A standardized interview was used to elucidate seizure phenomenology, precipitants, frequency, and response to treatment. Groups defined by seizure type were compared and their similarities examined. The group with myoclonic but not absence seizures (21 patients) corresponded to the ILAE syndrome of juvenile myoclonic epilepsy, whereas those with absences but not myoclonus (37 patients) resembled juvenile absence epilepsy. Twenty-six patients shared the features of juvenile myoclonic epilepsy and juvenile absence epilepsy. Epilepsy with GTCS on awakening was not a specific syndromic entity; 10 patients had this seizure type alone. Seven patients were without a syndromic diagnosis. In these patients only GTCS occurred, but neither on awakening nor in the evening period of relaxation. We conclude that whilst syndromes of idiopathic generalized epilepsy of adolescence can be recognized, the current classification does not include all patients. In addition, the boundaries between the syndromes are indistinct, suggesting underlying neurobiological, possibly genetic, relationships.
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PMID:Idiopathic generalized epilepsy of adolescence: are the syndromes clinically distinct? 878 Jan 39

The clinical and EEG findings in 20 patients with reading epilepsy (RE) diagnosed at the Mayo Clinic, Rochester, Minnesota, between 1949 and 1989 are documented in this study. Sixteen patients were followed for more than 10 years. The age at onset of RE ranged from 10 to 46 years (median 17.5 years). Precipitating factors other than reading, involving linguistic or non-linguistic higher cognitive processes, occurred in nine patients. Spontaneous myoclonus affecting the upper extremities, especially in the morning, indicated co-occurrence of juvenile myoclonic epilepsy (JME) in four patients. A positive family history for seizures (including one person with RE) was obtained for four patients. Interictal EEG abnormalities were present in 12 patients (60%). Ictal EEG findings were generalized and symmetric in 75% of patients, with a strictly focal (temporoparietal) discharge occurring in only two patients. Of the 11 patients who were alive and for whom recent information regarding seizure status was available, only three were symptom-free without anticonvulsant medication. Our data indicate resemblance of the clinical manifestations of RE with JME and other cognitive function-related seizures and point toward an overlap with them. We propose a classification for higher cognitive function-related epilepsies in general and RE in particular to explain the electrographic heterogeneity and clinical overlap observed. A hypothetical model to explain the ictogenesis and to encompass the electroclinical heterogeneity in RE is suggested.
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PMID:Reading epilepsy. An appraisal of 20 patients diagnosed at the Mayo Clinic, Rochester, Minnesota, between 1949 and 1989, and delineation of the epileptic syndrome. 789 16

Juvenile myoclonic epilepsy does not seem to be recognized as often as it should be, accounting as it does for about one in 10 of those with epilepsy. In addition to the myoclonus, absence seizures and tonic-clonic fits can occur. The interictal EEG shows polyspike and wave discharges, and during the myoclonus, medium to high amplitude 16 Hz spikes. Patients may not be seen by a doctor until a major seizure occurs, and if a history of myoclonus is not obtained, inappropriate treatment may be given. The myoclonus may attributed to clumsiness. The inheritance of the condition is most probably polygenic, although it is claimed that juvenile myoclonic epilepsy may be determined by a single autosomal recessive gene. The most effective treatment is with sodium valproate, and this may have to be life-long. In the presence of major seizures carbamazapine should be used with caution as it may exacerbate minor attacks.
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PMID:Review: juvenile myoclonic epilepsy. 803 30

We made a long term prospective study of 66 patients with juvenile myoclonic epilepsy (JME). Prevalence was 10.2% among 672 patients with epilepsies. Sex distribution was equal. Sixty-three were not diagnosed on referral; JME was not initially recognized in the epilepsy clinic in 22. Clinical typical absence seizures were reported in 33.3%, myoclonic jerks in 97% and generalized tonic-clonic seizures (GTC) in 78.8% of the patients. Mean age (+/- SD) at onset was 10.5 +/- 3.4 years (range 5-16 years) for absence seizures, 15 +/- 3.5 years (range 8-26 years) for myoclonic jerks, and 16 +/- 3.5 years (9-28) years (range 1-9 years) and GTC by 4.4 +/- 2.7 years (range 1-8 years) in 14 (21.2%) patients who manifested all three types of seizure. Absence were never antedated by myoclonic jerks or GTC. Myoclonic jerks occurred on awakening in 87.5% of the patients. GTC occurred mainly on awakening, but other patients had nocturnal or diurnal GTC with no circadian distribution. Neurologic examination was normal for all patients except for tremor of the hands similar to essential tremor, noted in 35% of patients. Computed tomography (CT) brain scans were normal: 93% of patients had precipitating factors: sleep deprivation (89.5%), fatigue (73.7%), photosensitivity (36.8%; television and video games 8.8%), menstruation (24.1% of women), mental concentration (22.8%), and stress (12.3%). Incidence of JME among siblings (13 of 41 examined families) implies an autosomal recessive mode of inheritance for this Arab population. EEGs were frequently normal in treated patients. At least one abnormal EEG was recorded in 56 (84.9%) patients. Abnormalities consisted mainly of generalized discharges of spike/double spike and/or polyspike and slow wave. Frequent multiple spikes and discharge fragmentations varied from 0.5- to 20-s duration (mean 6.8 s). Twenty (30.3%) had focal abnormalities, and 18 (27.3%) had photoconvulsive discharges. Eighty-eight percent of patients remained seizure-free for > or = 3 years of follow-up. Effective treatment was achieved with valproate (VPA); control of myoclonic jerks was improved with clonazepam (CZP). CZP monotherapy did not consistently prevent GTC. Adding small doses of CZP with simultaneous reduction of VPA was the most effective and better tolerated form of medication, particularly in patients demonstrating an adverse reaction or requiring a large VPA dosage. VPA dosage was successfully reduced in 15 patients who were seizure-free for > 2 years and had infrequent seizures before treatment, but 9 of 11 patients relapsed after VPA discontinuation.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Juvenile myoclonic epilepsy: a 5-year prospective study. 815 46

The chromosomal loci for seven epilepsy genes have been identified in chromosomes 1q, 6p, 8q, 16p, 20q, 21q, and 22q. In 1987, the first epilepsy locus was mapped in a common benign idiopathic generalized epilepsy syndrome, juvenile myoclonic epilepsy (JME). Properdin factor or Bf, human leukocyte antigen (HLA), and DNA markers in the HLA-DQ region were genetically linked to JME and the locus, named EJM1, was assigned to the short arm of chromosome 6. Our latest studies, as well as those by Whitehouse et al., show that not all families with JME have their genetic locus in chromosome 6p, and that childhood absence epilepsy does not map to the same EJM1 locus. Recent results, therefore, favor genetic heterogeneity for JME and for the common idiopathic generalized epilepsies. Heterogeneity also exists in benign familial neonatal convulsions, a rare form of idiopathic generalized epilepsy. Two loci are now recognized; one in chromosome 20q (EBN1) and another in chromosome 8q. Heterogeneity also exists for the broad group of debilitating and often fatal progressive myoclonus epilepsies (PME). The gene locus (EPM1) for both the Baltic and Mediterranean types of PME or Unverricht-Lundborg disease is the same and is located in the long arm of chromosome 21. Lafora type of PME does not map to the same EPM1 locus in chromosome 21. PME can be caused by the juvenile type of Gaucher's disease, which maps to chromosome 1q, by the juvenile type of neuronal ceroid lipofuscinoses (CLN3), which maps to chromosome 16p, and by the "cherry-red-spot-myoclonus" syndrome of Guazzi or sialidosis type I, which has been localized to chromosome 10. A point mutation in the mitochondrial tRNA(Lys) coding gene can also cause PME in children and adults (MERFF).
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PMID:Progress in mapping human epilepsy genes. 829 22


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