Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Video-EEG is a wellknown method for diagnostic evaluation of paroxysmal clinical events, providing the physician with a close correlation between clinical signs and electroencephalographic abnormalities. It has been widely used in the diagnosis of the different forms of epilepsy. It has proved to be useful in separating epileptic from nonepileptic crisis, in the characterization of the seizure type and frequently in the localization of the seizure onset. Patients were monitored for 6 hours on a closed circuit TV-video system with simultaneous EEG recording. A second camera focusing on the EEG paper; provided a video image of the brain electrical activity. The input from both cameras were synchronized with a TV splitter, so that a simultaneous image of the patient and EEG tracing was obtained on the TV monitor. The information was stored on videocassette for repeated analysis (Fig. 1). Forty four video-EEG on 44 patients, performed between February of 1988 and August 1989 were analysed. Mean age of the population was 30.18 years, with a range of 9 months to 64 years; 28 (63.6%) were female and 16 (36.4%) were male. Thirty five studies (79.5%) were considered abnormal. In 17 cases clinical events were recorded. Ten of the clinical episodes were considered as clear cut epileptic, 2 cases were interpreted as probably epileptic, since the surface EEG findings were minimal or absent. In the other 5 cases the episodes were interpreted as non-epileptic, being the diagnosis: psychogenic episodes in 3 cases, paroxysmal dystonia in 1 case and classical migraine in 1 case.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical value of electroencephalographic monitoring in closed-circuit television (EEG-video). Analysis of 44 studies]. 213 Feb 25

Twenty index patients with hereditary essential tremor and their kindreds were studied to define the phenotype of this condition. Ninety-three first degree and 38 more distant relatives were examined; 53 definite and 18 possible secondary cases were identified. The age of tremor onset was bimodally distributed with a median at approximately 15 years. Segregation analysis indicated autosomal dominant inheritance and penetrance was virtually complete by the age of 65 years. There were no examples of the disease skipping a generation. Men and women were affected in equal proportions. About 50% of cases were alcohol responsive. In the majority of families alcohol responsiveness was either consistently present or did not occur, but in 20% of kindreds definite heterogeneity of responsiveness was encountered within each family. The typical phenotype was a mild symmetrical postural tremor of the upper limbs. Tremor of the legs, head, facial muscles, voice, jaw and tongue occurred but never in isolation and rest, task specific (e.g. primary writing tremor) and primary orthostatic tremors were not found. Head tremor was invariably mild and 75% was of a 'no-no' type. Dystonia (e.g. torticollis and writer's cramp) were not encountered, a finding which strongly suggests that many previous studies of 'essential tremor' were contaminated by cases of idiopathic or hereditary torsion dystonia. No association with Parkinson's disease was found but classical migraine occurred in approximately 26% of cases and co-segregated with tremor. The severity of arm tremor (assessed using a clinical rating scale and by scoring tremor in Archimedes spirals) and disability increased with advancing age and increasing tremor duration, but there was no correlation between age at tremor onset and either tremor severity or disability. Men and women were affected with equal severity. The sex of the affected parent had no influence on the severity of tremor or the degree of disability experienced by an affected child. Disability commenced in the second decade and progressively increased. All the index patients and 59% of the definite secondary cases had tremor induced disabilities. Eighty-five percent of index patients and 38% of secondary cases also reported some degree of social handicap. Twenty-five percent of index patients and 12% of secondary cases had been compelled to change jobs or retire. Biological fitness was normal.
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PMID:A study of hereditary essential tremor. 792 67