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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe eight patients from three families presenting with myoclonus, ataxia, infrequent seizures and minimal intellectual impairment. All were Arabs from different parts of the Arabian peninsula. The new consensus on terminology, genetic and clinical definition of Baltic myoclonus, Ramsay Hunt syndrome and Unverricht-Lundborg disease suggests that our group are best categorised under the term of progressive myoclonic ataxia of the Unverricht-Lundborg type. Moreover, this report reinforces the existence of this syndrome outside Scandinavia.
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PMID:Progressive myoclonic ataxia without ragged red fibres: Unverricht-Lundborg disease vs Ramsay Hunt syndrome. 133 90

Four siblings aged 12-18 years with progressive myoclonus epilepsy demonstrated a subclinical stage at the age of 9-11 years, with visual blackouts and polyspike electroencephalographic (EEG) activity on photic stimulation, an early myoclonic stage at the age of 12-15 years, with increasing segmental, stimulus-sensitive myoclonus, occasional nocturnal buildup myoclonic "cascade" seizures, slowing of EEG alpha-activity, episodic 4-6 Hz bilateral sharp waves and polyspikes with myoclonias on photic stimulation, and a disabling myoclonic stage at the age of 16-18 years, with periodic generalized myoclonias, nocturnal myoclonic "cascade" seizures, ataxia, dysarthria, mental changes, intermittent wheelchair dependency, and continuous EEG slow waves with polyspikes and intense myoclonias on photic stimulation. One of the siblings died at the age of 18 years with no apparent cause of death. Treatment with antiepileptic drugs other than valproate may have contributed but none of the siblings were ever treated with phenytoin. Extensive clinical and laboratory investigations revealed no abnormalities and excluded other known possible causes of progressive myoclonus epilepsy. The diagnosis was consistent with Unverricht-Lundborg disease and rested on typical age of onset, clinical signs, EEG, and evoked response abnormalities. Buildup myoclonic seizures are typical in advanced stages of Unverricht-Lundborg disease. We have labeled these myoclonic "cascade" seizures. A typical seizure was studied with video-EEG and cardiorespiratory monitoring. Characteristics revealed were onset with continuous arrhythmic myoclonic jerks followed by intense rhythmic myoclonus with increasing muscle tone that successively reduced the amplitude of the jerks. The EEG during the whole seizure showed intense polyspike activity. Obstructive apnea was seen at the peak of the seizure. There were no cardiac dysrhythmias. Consciousness was normal or only slightly impaired. Postictal drowsiness was not observed. Myoclonic "cascade" seizures are easily confused with generalized tonic-clonic seizures.
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PMID:Clinical and neurophysiological development of Unverricht-Lundborg disease in four Swedish siblings. 174 64

Baltic myoclonus epilepsy (BME) is a neurodegenerative disease characterized by tonic-clonic seizures, myoclonus and a progressive course. The aim of the present study was to assess the clinical symptoms and signs of possible involvement of the autonomic nervous system (ANS) and objectively evaluate autonomically mediated cardiovascular reflexes in this syndrome. Fifteen patients with BME and 14 healthy control subjects were studied. Thirteen (87%) of the patients had symptoms suggesting ANS dysfunction. The most common symptoms were postural dizziness and sweating disturbances. The heart rate variation during deep breathing was lower in patients than in controls. The heart rate response and systolic blood pressure response during tilting were similar in both groups. Our results suggest a mild parasympathetic hypofunction and an intact sympathetic function in ambulatory patients with BME.
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PMID:Autonomic nervous system function in Baltic myoclonus epilepsy. 211 65

It has been suggested from studies of patients with progressive myoclonus epilepsy that the term Ramsay Hunt syndrome should be abandoned, as its use has led to nosologic confusion, and because, in the light of modern diagnostic techniques, the majority of cases can be allocated to specific disease categories, chiefly, Unverricht-Lundborg disease (Baltic myoclonus) and mitochondrial encephalomyopathy. Review of 30 cases of this syndrome, defined as progressive ataxia and myoclonus and infrequent seizures in the absence of dementia, showed that a clinical or biochemically supported diagnosis could not be made in 43%. This low diagnostic yield probably reflects differences in ascertainment of patients; those described here were referred with a syndrome of progressive myoclonic ataxia (the Ramsay Hunt syndrome) rather than progressive myoclonus epilepsy. These two syndromes share common causes, but a smaller proportion of patients with progressive myoclonic ataxia can currently be diagnosed precisely during life.
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PMID:Progressive myoclonic ataxia (the Ramsay Hunt syndrome). 212 Nov 21

Clinical studies using 31P and 1H MRS with a whole body 2.0 T MRI/MRS system are described. In most cases, techniques to quantitate absolute molar concentrations of metabolites in various organs were used. In the brain, AIDS, chronic stroke, and white matter lesions were associated with alterations of brain 31P metabolites. Epilepsy was associated with increased pH in the seizure focus. In the heart, dilated cardiomyopathy was associated with increased PDE/ATP while PCr/ATP was unchanged. In the liver, alcoholic hepatitis and cirrhosis were associated with diminished hepatic ATP while alcoholic hepatitis had increased pH and cirrhosis had decreased pH. This allowed differentiation of normal liver, alcoholic hepatitis, and alcoholic cirrhosis without biopsy. In the prostate, malignancy was associated with increased PME/ATP and decreased PCr/ATP. The PME/PCr was greatly increased in malignant prostate with no overlap in normals. Other cancers outside the brain had increased PME and effective treatment was often associated with diminished PME. 1H MRS of the brain was performed using ISIS and outer volume suppression pulses for volume localization. Excellent high resolution 1H water-suppressed spectra were obtained at echo times as short as 30 ms, showing well resolved peaks for lactate, N-acetylaspartate, glutamate, choline, creatinine, and inositol. 1H MRS demonstrated that the uptake of ethanol by the brain was slower than the rise of ethanol in blood. 31P spectroscopic imaging of the brain with resolution of 2.25 x 2.25 x 2.5 cm produced metabolic images and high resolution spectra from desired regions of interest.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Clinical magnetic resonance spectroscopy of brain, heart, liver, kidney, and cancer. A quantitative approach. 270 9

Action myoclonus, reviewed in this chapter, is the term applied to arrhythmic muscular jerking induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli. The effective stimuli for action myoclonus is probably feedback from muscle afferents, although it may be initiated by corollary discharge from motor cortex to reticular formation before or at the onset of voluntary movement. The condition is usually associated with diffuse neuronal disease such as post-hypoxic encephalopathy, uremia, and the various forms of PME, although action myoclonus may be limited to one limb in some cases of focal cerebral damage. It is caused by hyperexcitability of the sensorimotor cortex (cortical reflex myoclonus) or reticular formation (reticular reflex myoclonus), or both. No consistent pathological change has been reported in autopsied cases of action myoclonus. The underlying disorder appears to be a loss of inhibitory mechanisms involving serotonin and possibly GABA as transmitter agents. The term PME is used for the association of myoclonus with degenerative changes in the nervous system which are commonly diffuse but may predominate in certain systems. There may or may not be associated tonic-clonic seizures, other manifestations of epilepsy, or dementia. Those cases of PME associated with Lafora inclusion bodies and cerebral storage diseases can be distinguished from the system degenerations. Systems which may be involved in the latter group include cerebellodentatorubral, pyramidal, extrapyramidal, optic, auditory, posterior columns and gracile and cuneate nuclei, spinocerebellar pathways, motor neurons of cranial nerves and anterior horns, and muscle fibers. Confronted with this diversity of pathological change, it seems unnecessary to make any clinical distinction between Ramsay Hunt syndrome and Unverricht-Lundborg syndrome (Baltic myoclonus) because cerebellar signs are found in patients described under both headings. Additional systems may be involved in individuals or families who are otherwise typical. All three names could well be joined in an eponymous title (Unverricht-Lundborg-Hunt disease) or the condition simply known as the systems degeneration type of PME, as Halliday (43) suggested. The cause of the condition (or spectrum of conditions) is at present unknown. Action myoclonus usually responds to sodium valproate or clonazepam, and some individuals, particularly those with posthypoxic myoclonus, improve with the administration of serotonin precursors.
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PMID:Action myoclonus, Ramsay Hunt syndrome, and other cerebellar myoclonic syndromes. 308 Aug 51

Progressive myoclonus epilepsy (PME) without Lafora bodies, or Baltic myoclonus epilepsy, is characterized by stimulus-sensitive myoclonus, generalized tonic-clonic seizures, and an irregularly progressive course beginning between 6 and 15 years of age. The EEG displays spike-and-wave paroxysms with irregular dominant activity. Baltic myoclonus epilepsy is a single-gene disorder inherited in an autosomal recessive pattern. Early cases were reported from Estonia, and many are now found in Finland, suggesting that the gene frequency is increased in those sharing the Finno-Ugric linguistic base. The use of phenytoin should be avoided in this disorder since its continued administration alone or with other antiepileptic drugs is associated with intellectual and motor deterioration, aggressive behavior, increasing ataxia, and even death. Treatment with valproate and the concomitant elimination of phenytoin have been associated with marked improvement in most cases. Baltic myoclonus epilepsy must be distinguished from Lafora body PME, which is relentlessly progressive and invariably fatal, but can usually be differentiated on clinical grounds.
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PMID:Effect of phenytoin on the mental and physical function of patients with Baltic myoclonus epilepsy. 311 15

Two patients with progressive myoclonus epilepsy of the Unverricht-Lundborg type and with intractable seizures in spite of standard anticonvulsant regimens were treated with zonisamide. After zonisamide therapy was initiated, both had a marked decrease in seizure frequency and significant improvement of functioning. Serum zonisamide concentrations were 43 and 27 micrograms/ml, respectively, with doses of 8.8 and 10.5 mg/kg/d. Both patients also continue to receive valproic acid and a benzodiazepine.
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PMID:Progressive myoclonus epilepsy treated with zonisamide. 313 May 86

A survey of 15 families in the USA with Baltic myoclonus epilepsy showed that the 27 individuals who were affected had the following clinical picture from about the age of 10: photosensitive, occasionally violent, myoclonus, usually worse upon waking; generalised tonic-clonic seizures, sometimes associated with absence attacks; and light-sensitive, generally synchronous, spike-and-wave discharges on EEG that preceded clinical manifestations. Necropsy revealed marked loss of Purkinje cells of the cerebellum, but no inclusion bodies. Since the disease was confined to sibs and consanguinity was present in two families, autosomal recessive inheritance is probable. The disease progressed more rapidly in these families than it did in the early cases, seen in the Baltic region. This difference could be due to a toxic effect of phenytoin because phenytoin given alone or with other antiepileptic drugs was associated with progressive motor and intellectual deterioration, marked ataxia, and even death. Treatment with valproic acid, and the concomitant reduction or elimination of phenytoin, has been associated with marked improvement in at least 8 patients. Baltic myoclonus epilepsy must be distinguished from Lafora body disease, which is invariably fatal and discernible on clinical grounds.
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PMID:"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. 613 60

Eleven patients with long-standing progressive myoclonus epilepsy, PME, and age- and sex-matched epileptic controls received L-tryptophan (L-Trp) 100 mg/kg body weight combined with carbidopa in addition to their usual anticonvulsant regimen. During six weeks of the trial an improvement in activities of daily living and a decrease of action myoclonus was noted in the PME patients. The frequency of seizures compared with the past year decreased significantly in the PME patients, but not in the epileptic controls. Changes in the EEGs of the PME patients were scant, but a slight decrease was noted in myoclonic spikes. Both plasma Trp and platelet 5-HT increased significantly and at least as much as in epileptic controls. 5-HIAA and HVA concentrations in the CSF of the PME patients increased significantly during the trial. The results support previous findings concerning Trp treatment in PME, and longer trials with Trp + carbidopa could be of value in this disease.
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PMID:L-tryptophan-carbidopa trial in patients with long-standing progressive myoclonus epilepsy. 617 51


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