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)

Report is made of two patients with Epilepsia Partialis Continua (E.P.C.) from brain organic damage (since carcinoma metastasis and localized ischemia). Clinical EEG, neuroradiological and anatomo-pathological and therapeutical problems are dealth with the light of a review on previous papers. The EEG by itself is assumed as a not sufficient neurophysiological mean. Long time poligraphic enregistrations during awakeness and sleep havae, on the contrary, produced interesting data. The continuous and localized more or less rhythmic myoclonus, which are the distinctive feature in the E.P.C., were in both the patients confined to the first two fingers of their hands; the more they decreased the deeper was sleep (phase II and III-IV) and almost disappeared in the REM phase. Thus poligraphic enregistrations for E.P.C. patients are maintained as very significant.
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PMID:[Poligraphy during awakeness and sleep in patients with epilepsia partialis continua]. 12 64

Motor phenomena - mostly in the form of myoclonus in the widest sense - are not rare in aeromedical studies conducted at flight altitudes and involving severe and acute hypoxia. At the same time medium to severe general changes can be observed in the EEG. When oxygen is supplied the motor phenomena stop after a few seconds, and the EEG results become normal again. These reversible changes are contrasted with clinical findings after anoxic coma conditions and hypoxic accidents which occurred during flights and where the myoclonus survives the coma, which is an extremely grave prognostic indication.
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PMID:[Prognostic significance of myoclonias in aerospace altitude studies and others with acute hypoxia-accompanied status]. 12 75

Valproic acid in therapeutic doses was used in the treatment of postanoxic intention myoclonus. Disappearance of the myoclonus occurred with marked improvement in the electroencephalogram. No significant side effects were noted. Hepatic function tests were monitored. Determination of valproic acid plasma levels was used to guide therapy. Levels above 55 micrograms were generally required. The patient remains free of myoclonus after four and one half months.
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PMID:Treatment of postanoxic intention myoclonus with valproic acid. 12 39

Clinical and pathological findings in two cases of degenerative progressive myoclonic epilepsy (PME) are described. The clinically difficult task of differentiating a "cerebellar" tremor from an action myoclonus is emphasized. Simultaneous electroencephalography and electrokymography was done, using capacity to ground transients for recording hand movements. This method was found useful in corroborating the cerebellar nature of the remaining disorder, after successful treatment of the myoclonic element with anticonvulsants.
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PMID:Degenerative progressive myoclonic epilepsy electrokymographic observations. 12 41

A young woman, with negative family history, committed suicide after 6 years of myoclonus and mental deterioration. The neurons contained atypical myoclonus bodies which differed from the classical type in distribution, histochemistry and light and electron microscopic appearance.
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PMID:Atypical myoclonus body epilepsy (adult variant). 12 26

An exhaustive clinico-biochemical examination of the population of two kishlaks of the Samarkand Region, viz. Karakent (210 persons) and Ishan (248 persons) was carried out. The program of this examination permitted to exclude over 160 forms of hereditary pathology. A total of 45 persons affected with diseases belonging to 12 nosological forms were revealed in the course of the examination. Among the diseases observed only 5 are hereditary sensu stricto, viz. myoclonus-epilepsy, Bonevi-Ulrich's syndrome, imperfect osteogenesis, pigment choreoretinite and Down's syndrome, others belong to diseases with a pronounced hereditary predisposition. The main part of this group comprises neuro-psychic diseases, such as non-differentiated olygophreny (5.0%), epilepsy (1.3%), schizophreny; many of these cases have a familial character, particularly in Karakent. Besides the persons suffering from diseases, 20 heterozygous carriers of beta-thalassemia and 17 heterozygous carriers of G6PD-deficiency were discovered in the kishlaks examined. On the whole the frequency of the diseases revealed did not exceed the level in the general population. Despite the different degree of isolation of the kishlaks examined (Karakent is isolated on a religious basis, F = 0.0064; while Ishan is a desintagrated isolate, F = = 0.0014), no substantial differences between them in the distribution of pathological phenomena were observed. On the basis of the experience of this expedition recomendations are proposed concerning the origination and accomplishment of medico-genetic expeditions. A scheme is proposed for the performance of medico-genetic examination through several stages. The first stage in the composition of tentative maps of the distribution of hereditary diseases within a region on the basis of the information obtained from the medical personnel and from the examination of the documents of district and regional hospitals. Subsequently the primary information is specified, the regions to be examined are determined, as well as concrete tasks and the staff of the expedition. The conclusive stage is the medico-genetic examination proper, including clinical, biochemical, immunological and cytogenetic diagnoses of hereditary pathological phenomena. The place of the disposition is a village or a district hospital. More complicated laboratory studies should be performed on the basis of the institution by which the expedition is formed. The results obtained by such expeditions would be important for the investigation of the problems of genogeography, for the discovery of new forms of mutant alleles, for the investigation of the causes and the conditions of the formation of the definite populational structure, of clinical polymorphism of human hereditary diseases.
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PMID:[Medico-genetic study of isolates in Uzbekistan. IV. Clinico-biochemical diagnosis of hereditary diseases]. 13 12

A patient is described with severe intention myoclonus which was made worse by treatment with L-Dopa and improved by clonazepam. Family history and examination of several siblings suggested the diagnosis of Huntington's disease. Subsequent to improvement of the myoclonus the patient appeared to have the rigid form of Huntington's disease. This case represents a unique expression for an otherwise well defined genetic abnormality. Stimulus activated myoclonus in a common feature of a number of disorders of the nervous system. Intention, or action myoclonus has been the subject of increasing interest because of its association with the syndrome of post-anoxic encephalopathy (1), although it may occur with other disorders as well. Many abnormal movements have been reported in Huntington's disease, but myoclonus is a relatively uncommon feature of this disorder and to our knowledge intention myoclonus has not been reported as a major symptom. We recently have evaluated a patient with disabling intention myoclonus and examined several members of his family who have typical Huntington's disease. We therefore report this case, a unique presentation of an otherwise well described movement disturbance.
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PMID:Intention myoclonus in Huntington's disease. 13 56

Intermittent, rhythmical myoclonus that had been present in the lower limbs of a 68-year-old man for more than 50 years was obviously increased in frequency during the period when the patients suffered from acute transverse myelitis. The same type of movements were readily induced by irrigation of the urinary bladder during the period of paraparesis. Removal of some possible inhibitory influences from a myoclonic focus in the lower spinal cord with resulting heightened excitability was thought to be the mechanism of these phenomena, although direct irritation of the myoclonic focus by the inflammatory process was also conceivable. The patient had keratosis palmoplantaris hereditaria and retinal pigment degeneration, suggesting the possibility of a congenital neuroectodermal dysplasia.
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PMID:Spinal myoclonus with dermal and retinal changes affected by myelitis. 14 Jun 43

The effects of eyelid closure on oculomotor function was examined in 11 patients with palatal myoclonus. In eight patients, eyelid closure induced gross rhythmic vertical or almost oscillatory movements of the globes, which were synchronous with the rhythmic beat of the palatal myoclonus. The rhythmic vertical ocular movements induced by eyelid closure replaced calorically induced or spontaneous horizontal nystagmus present when the lids were open. Vertical ocular motions persisted during some stages of slow-wave sleep and reappeared during each stage of rapid eye movement. The physiologic basis of the palato-ocular synchrony may be similar to the eyelid closure, vertical eye movements, and palatal myoclonus that occurs in monkeys on stimulation of the central tegmental fasciculus.
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PMID:Palato-ocular synchrony during eyelid closure. 17 83

In case 1, 41-year-old male, developed progressive demetia, paretic gait disturbance and pyramidal signs with the duration of three years. The neuropathological study revealed systemic atrophy as type Pick-disease i.e., lobal atrophy in the frontal and the parieto-occipital regions, degenerative changes in the basal ganglia and in the thalamus, nerve cell loss in the substantia nigra and myelin pallor in the pyramidal tract. Lafora-like inclusions were found in the cerebral cortex and in the cochleal nucleus. In case 2, 45-year-old male, showed character change, cerebellar symptomes and mental deteriotation, and ulcers on the oral mucosa during about 15 years long period. Neuropathological examination showed chronic encephalitis in the brain stem, vacuolar change in the neuron in the olivary nucleus and Lafora-like inclusions in the cochlear nucleus. Though neither generalized conversion nor myoclonus were clinicaly observed in these cases, the inclusions showed histochemically strong similarity with that of the Lafora-disease. These Lafora-like inclusions were compared with those in the literatur, which were reported on various disease of CNS. Finally in respect of predilection of the inclusions, it is likely that the inclusions result from same metabolic disturbance in the cochlear neurons in the Lafora-disease as well as in the present cases.
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PMID:[Clinical and histopathological studies of cases of lafora-like inclusion bodies]. 19 69


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