Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A middle-aged man suffering from myoclonic jerks of the right arm and leg and occasional grand mal seizures was investigated electrophysiologically. The EEG showed a left central spike focus which could be activated by any stimulus which distorted the biceps, triceps or brachioradialis muscles but skin stimulation was ineffective. Electrical nerve stimulation subthreshold to the alpha motoneurone fibres evoked cortical spikes and myoclonic jerks. The evidence supports the hypothesis that the myoclonus was triggered by muscle spindle afferent fibres (Ia) which projected to an epileptogenic focus in the sensori-motor area. A marked improvement of symptoms was achieved by a combination of baclophen and dipropylacetate.
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PMID:Focal reflex epilepsy with myoclonus; electrophysiological investigation and therapeutic implications. 6 53

In this report 52 patients meeting the criteria of centrencephalic myoclonic-astatic petit mal (10) at the beginning of petit mal are included. The results of clinical and encephalographic follow-up examinations are as follows: 1) The type reported here apparently has a petit mal course with peculiar characteristics, it therefore must be separated from Lennox syndrome: centrencephalic myoclonicastatic petit mal, pyknolepsia, bilateral myoclonus (impulsive petit mal). It should file under generalized primary petit mal epilepsy. 2) It is primarily defined by its EEG marker: "centrencephalic" EEG pattern (irregular and/or regular spike-wave groups, photosensibility and abnormal theta- and/or delta-rhythm). Rarely (33%) minor cerebral organic lesions as additional pathogenetic factors are uncovered by clinical and electroencephalographic examinations. 3) The clinical picture is characterized, aside from myoclonic and/or astatic seizures, by frequent absences (80%), rare tonic seizures (6%), petit mal status (25%) and mostly generalized grand mal seizures (62%). 4) There are changes of the course of the disease to Lennox syndrome (N = 6) in in children suffering from marked cerebral organic lesions at the onset of petit mal and in development of severe epilepsy. 5) Least favorite markers with respect to prognosis are concomitant grand mal seizures (p = 0,05), petit mal status (p = 0.008), additional 2/sec spike wave-pattern (spike wave Variant) in the EEG (p = 0.002) and previous seizures with focal signs. Favourite outcome of epilepsy are frequently connected to missing cerebral organic lesions (p = 0.05).
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PMID:[Centrencephalic myoclonic-astatic petit mal. Clinical and electroencephalographic long-term follow-up study in 52 patients (author's transl)]. 9 76

Petit mal absences in childhood are often followed by grand mal seizures in adolescence and a coexistence of both types of seizures is not uncommon at all. It is noteworthy, however, that such a coexistence does not imply immediate transition from one type of seizure into the other one. Hence, a grand mal attack may be prepared by all sorts of focal seizures, psychomotor automatisms or bilateral-synchronous myoclonus but immediately preceding petit mal (with generalized spike-wave discharges) is probably extremely rare. The presented case is characterized by unusually late onset of petit mal and grand mal seizures at age 32 and, following a mild head injury, a few episodes of petit mal status (ictal stupor) at age 52. At that time, a series of petit mal absences and eventually a smooth transition from petit mal to grand mal could be recorded. Uncommon frequency characteristics (especially some interspersed spiking at a rate of 9-15/sec) were found at the onset of the ictal spike-wave activity during the petit mal absences. This is regarded as the expression of failing inhibitory mechanisms which generally prevent the immediate development of a grand mal out of a petit mal absence.
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PMID:Immediate transition from a petit mal absence into a grand mal seizure. Case report. 81 90

Effects of acute and chronic paleocerebellar stimulation were evaluated in four experimental models of epilepsy in 24 adult cats chronically implanted with bilaterally symmetric parasagittal electrocorticographic electrodes and anterior lobe cerebellar stimulation electrodes. Pentylenetetrazol was given intraveneously in 50-mg increments or 4% enflurane was inspired until grand mal seizures occurred spontaneously or were triggered by photic or auditory stimuli. Alpha-chloralose, 50 mg/kg, was injected intraperitoneally to produce a model of stimulus-sensitive myoclonus and sodium penicillin G, 350,000 units/kg, was injected intramuscularly to produce a model of petit mal epilepsy. One- to 250-Hz electrical stimulation of paleocerebellar cortical surfaces was performed with constant-voltage or constant-current stimulators at threshold and suprathreshold intensities with average intensities of 8 V and 2.5 mA, respectively. Acute or chronic, threshold or suprathreshold paleocerebellar stimulation did not predictably alter the electrographic or clinical manifestations in any of these four models.
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PMID:Effects of acute and chronic paleocerebellar stimulation on experimental models of epilepsy in the cat: studies with enflurane, pentylenetetrazol, penicillin, and chloralose. 114 12

Transient increases of the early cortical somatosensory evoked potentials (SSEP) were observed in 9 patients who received antidepressant and/or neuroleptic treatment. All patients developed myoclonus, and 2 had grand mal seizures. Three cases--one 20-, one 17- and one 15-year-old patient--are presented in detail. Similar observations have been reported in elderly patients. Possible underlying mechanisms and the potential value of the SSEP in identifying and monitoring patients at risk of developing psychotropic drug-induced side-effects are briefly discussed.
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PMID:[Changes in somatosensory evoked potentials in pharmacogenic myoclonia]. 135 55

Benign myoclonic epilepsy in infancy (BME) is characterized by the occurrence of brief myoclonic attacks in normal infants aged 4 months to 3 years. There is no prior personal history, although in some patients 1 or 2 isolated febrile convulsions may occur prior to the onset of myoclonias. A family history of epilepsy or febrile convulsions is present in 30% of cases. Myoclonic attacks are short and mild, they involve mainly the head and upper limbs. The psychomotor development continues normally after the onset of seizures. The EEG shows a normal background activity and generalized spike-wave or polyspike-wave discharges associated with the myoclonias. These abnormalities are activated by drowsiness and during the first stages of sleep. A clinical and EEG photosensitivity is present in one-third of the patients. Myoclonias can be easily controlled by valproate monotherapy. Rare grand mal seizures can occur during adolescence, after withdrawal of drug treatment. The psychomotor evolution is good if treatment is started early. When myoclonias begin during the first year of life, the diagnoses of cryptogenic infantile spasms and of non-epileptic benign infantile myoclonus must be eliminated. In cases with a later onset, the following diagnoses can usually be easily discarded: cryptogenic Lennox-Gastaut syndrome, myoclonic-astatic epilepsy and unclassified epilepsies with the association of myoclonias and other types of seizures.
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PMID:Benign myoclonic epilepsy of infancy: electroclinical symptomatology and differential diagnosis from the other types of generalized epilepsy of infancy. 141 73

This is a case of Ramsay Hunt syndrome with mental disorder. The patient had action myoclonus, grand mal seizure and severe cerebellar ataxia. Schizophrenia-like symptoms including delusion of persecution and self-reference, auditory hallucination and incoherence were characteristically observed before the neurological disturbance became manifest. Subsequently, euphoria, disinhibition, moria and mild dementia appeared with neurological symptoms. The possibility of Ramsay Hunt syndrome to accompany organic mental syndromes and the relationship between cerebellar dysfunction and psychiatric symptoms are discussed.
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PMID:Ramsay Hunt syndrome with mental disorder. 181 81

It has been found that PME without Lafora bodies is more common in Finland than elsewhere. The incidence is 1:20,000. The mode of inheritance is autosomal recessive. At first the children are healthy. Stimulus-sensitive myoclonic jerks and grand mal seizures appear at the age of 6 to 15 years. The EEG shows a generalized disturbance with spike-wave or polyspike-wave paroxysms which increase during photic stimulation. Myoclonic jerks incapacitate the patient. Within 5 years after the onset of the first symptoms, many patients have a disorder of gait and may become confined to bed. Sodium valproate alone or combined with clonazepam is the most effective therapy. However, the course of the disease is progressive. The mean age at death has been 24 years but appears to be increasing. The etiology and pathogenesis of PME without Lafora bodies are unknown. Increased excretion of indican has been noted, suggesting deficient intestinal absorption of L-tryptophan. A loss of Purkinje cells is the most prominent neuropathological feature. No inclusion bodies are present. Finnish PME patients are similar to the patients described by Unverricht from Estonia and by Lundborg from Sweden. Neuropathological data from these patients are not available. Clinically, these patients could form an entity with Finnish patients defined as a Baltic or Nordic type of PME. The gene is enriched in Finland, but elsewhere it is rare.
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PMID:Baltic myoclonus. 241 50

Cortical and subcortical multiunitary activities (MUA) and EEG were simultaneously recorded in baboons made photosensitive by a subconvulsant dose of DL-allylglycine. Intermittent light stimulation (ILS) trains induced in these animals fronto-rolandic (FR) paroxysmal discharges (PDs, constituted as spikes and waves) and grand mal seizures. During the induction of FR PDs by ILS trains, the visual structures (occipital cortex, colliculi superioris, pulvinar) showed a significant MUA increase which was not related to the PD spike or wave but correlated with the flashes. The first structure showing bursts of MUA that frequently preceded the PD appearance was the FR cortex. When PDs appeared, the bursts were related to the spikes of PDs and were followed by an inhibition during the slow wave. The pontine and mesencephalic reticular formations and the facial nuclei were activated in bursts after the FR PDs had reached a certain amplitude. The thalamic nuclei ventralis lateralis, centrum medianum and lateralis posterior were activated only later, when the FR PDs had reached an even greater amplitude. It is suggested that the activation of visual structures is necessary for FR PD appearance. The secondary pontine and mesencephalic activation could reinforce that of the FR cortex and then the thalamus, and could determine the myoclonus observed in unparalysed animals. When the ILS is continued, grand mal seizures appear. The onset of the seizures could be linked to the loss of FR cortical control of the subcortical structures. The resulting reticular activation would be responsible for the vasomotor modifications which constitute the first clinical signs of a seizure.
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PMID:Multiunitary activity analysis of cortical and subcortical structures in paroxysmal discharges and grand mal seizures in photosensitive baboons. 242 96

The authors report a sporadic case of Lafora's disease, unusual for the comparatively late age at onset and atypical evolution. Discrete visual phenomena that may be considered as partial seizures occurred at age 19 years. A generalized tonic-clonic seizure occurred at 20 years of age and myoclonus became apparent a few weeks later. A massive cognitive dysfunction was clearly apparent 3 months after the first seizure and further mental deterioration occurred although seizures were controlled by medication and myoclonus remained minimal. The EEG showed the typical association of generalized and focal (occipital) changes. Axillary++ skin and muscle biopsies were positive and easily confirmed the diagnosis. The clinical presentation of Lafora's disease is considered by the authors to be sufficient for a clinical diagnosis, even in such an atypical case. Confirmation by skin biopsy is easily obtainable.
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PMID:Semi-late onset and rapidly progressive case of Lafora's disease with predominant cognitive symptoms. 251 3


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