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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dystonia occurs frequently following administration of neuroleptic or antiemetic drugs. This acute manifestation is not likely to be a simple consequence of reduced dopaminergic activity, because it was never reported to occur following the use of drugs which deplete dopamine stores, like reserpine and tetrabenazine. Based on the fact that dopamine-beta-hydroxylase levels are frequently elevated in patients with the dominant form of torsion dystonia it is suggested that dystonia results from impairment of a normal dopaminergic-noradrenergic balance, in which noradrenergic tone preponderates. A relative norepinephrine hyperactivity may be caused by dopaminergic blockade (as occurs in drug-induced dystonia) or from enhanced release of norepinephrine (in idiopathic torsion dystonia).
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PMID:The pathophysiology of dystonia. 69 Jun 31

The clinical, biochemical, and pharmacologic responses to L-dopa were studied in 87 patients with Parkinson's disease. Eleven of the 87 patients had a long-duration response, 39 had a short-duration response, and 37 had a combination of both. Thirty-four of the 39 patients with short-duration response to L-dopa experienced a consistent and reproducible sequence of clinical and biochemical events after each dose, characterized by improvement of parkinsonism and a single phase of dystonia occurring during or shortly after the peak of dopa concentration in plasma and during maximal clinical improvement. We have called this the I-D-I- response, for Parkinsonism-Improvement-Dystonia-Improvement-Parkinsonism. The remaining five patients all had the onset of the disease at an unusually young age and showed a distinctly different response pattern consisting of a first phase of dystonia, before there was any improvement, followed by a phase of improvement without dystonia and then by a second phase of dystonia before the abrupt return of parkinsonism. We have called this the D-I-D response, for Parkinsonism-Dystonia-Improvement-Dystonia-Parkinsonsim. Dystonia occurs in the D-I-D- response when the concentration of dopa in plasma passes through a critical but relatively low level, whereas it remains absent as long as the concentration of dopa remains above that level. In the I-D-I- response, dystonia is avoided by keeping the plasma concentration of dopa low, in the D-I-D- response by keeping it high. It is postulated that in the D-I-D response postsynaptic depolarization blockade due to supramaximal stimulation of the neuronal system mediating dystonia occurs, whereas in the I-D-I response the postsynaptic members of the same neuronal population respond with excitation but not with depolarization blockade.
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PMID:Patterns of dystonia ("I-D-I" and "D-I-D-") in response to l-dopa therapy for Parkinson's disease. 83 64

Dystonia among Black and Puerto Rican patients has been reported to be a rare occurrence. Two such patients have been presented. An attempt was made to discover other cases by utilizing a mail survey. This has documented the rarity of dystonia in those ethnic groups.
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PMID:Dystonia in the black and Puerto Rican population. 94 65

Dystonia in the pediatric age group can be confused with hysteria, particularly when it occurs in an emotionally disturbed child with a negative family history of dystonia. A 20-year-old girl with a 12 year history of DMD is described. From age 12 to 17 she was housed in a mental institution after a misdiagnosis of hysteria was made. The progressive nature of DMD and the important emotional components are stressed. The multidisciplinary management model is discussed as a valuable method in the treatment of this chronic neurological disorder.
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PMID:Multidisciplinary management of dystonia misdiagnosed as hysteria. 94 78

Dystonia may be classified by age of onset (childhood, adolescence, adult onset), body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized) and etiology (idiopathic and symptomatic). We studied 76 patients with idiopathic dystonia among 122 cases of dystonic syndrome (62.3% of the total). There were 48 female and 28 male patients. Adult-onset focal dystonia was the most frequent feature (37 patients). The onset of generalized dystonia was more frequently seen under the age of 20, whereas focal and segmental dystonia usually started over this age. Postural tremor of the hands was observed in 19.7% of the patients. Spasmodic torticollis was the most prevalent form of dystonia overall. Except for writer's cramp, which occurred more frequently in males, and generalized dystonia, which was equally divided between sexes, all other forms were more frequent in females. Our data suggest that differences in racial origin, social and economical status and environmental factors do not account for a different manifestation in dystonia pattern.
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PMID:Idiopathic dystonia. Clinical profile of 76 Brazilian patients. 130 50

Dystonia is a term used to describe a specific set of abnormal movements that can occur as a symptom of a variety of neurologic disorders, but also as a disease entity in its own right. This review focuses on the primary dystonias and delineates the genetic contribution to these disorders. Included is a description of the well recognized forms of primary dystonias which manifest autosomal dominant inheritance, especially the "classic" type of early onset, generalized torsion dystonia, but also other clinically distinct forms such as myoclonic dystonia, paroxysmal dystonia, and DOPA-responsive dystonia. Also, a summary of the molecular genetic studies pertinent to these disorders and a discussion of the implications of recent genetic research for delineating the wide spectrum of this phenotypically and genetically heterogeneous group of diseases are forthcoming.
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PMID:The autosomal dominant dystonias. 134 64

Dystonia and parkinsonism are two major representatives of movement disorders. The X-linked dystonia-parkinsonism syndrome (XDP) serves as a model system for the study of both dystonia and parkinsonism since both symptom complexes occur together and are inherited as Mendelian traits with very high penetrance. XDP, which is endemic to the Philippine island of Panay, originated by a single mutation ("genetic founder effect"), thus assuring homogeneity of the disorder at the molecular level. The disease locus, DYT3, has been assigned to the proximal long arm (Xq12-21.1) of the human X chromosome. A strategy is described to isolate this gene by positional cloning. The rationale of this strategy, the major methods involved and technical terms are explained.
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PMID:The X-linked dystonia-parkinsonism syndrome (XDP): clinical and molecular genetic analysis. 136 36

Dystonia is a syndrome characterized by sustained muscle contraction, provoking twisting and repetitive movements or abnormal postures. It may be classified according to etiology, as idiopathic or symptomatic. We studied 122 Brazilian patients with a dystonic syndrome. Of these, 46 (37.7%) had symptomatic dystonia. The most frequent cause was tardive dystonia (34.8%) followed by perinatal cerebral injury (30.4%). Other causes were stroke (13.0%), encephalitis (6.5%) and Wilson's disease (4.3%). Cranial trauma, mitochondrial cytopathy and psychogenic, were the least frequent causes with one patient in each category. The etiology in two patients could not be established. Perinatal cerebral injury and postencephalitic dystonia were seen in the younger age group, while post-stroke and tardive dystonia were seen in the older age group.
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PMID:Symptomatic dystonia: clinical profile of 46 Brazilian patients. 142 47

Dystonia is a syndrome characterized by sustained muscle contractions frequently causing twisting and repetitive movements or abnormal posture. For diagnosis, prognosis and therapy, it is useful to classify dystonia with regard to types of abnormal movements present, their mode of activation and topographical distribution taking into account age of onset, and etiology. The majority of cases are idiopathic, or primary dystonias, while in a minority environmental, structural, or metabolic causes can be identified. Primary dystonias can be familial or sporadic. The most important neurophysiological phenomenon in dystonia is pathological cocontraction of antagonistic muscles, while there is no consistent neuropathological abnormality in idiopathic dystonia. Causal therapies for dystonia are only possible in a few symptomatic forms (M. Wilson, Segawa-syndrome). As a rule, treatment has to be symptomatic but results of systemic pharmacotherapies remain disappointing. For adult onset focal dystonias, a breakthrough in symptomatic therapy has been achieved with local "chemical" denervation by means of botulinum toxin type A injections.
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PMID:Dystonia--a clinical, neuropathological and therapeutic review. 149 Dec 51

Dystonia refers to involuntary, prolonged muscle contractions leading to sustained, often twisting, postures. High dose anticholinergic therapy for childhood onset dystonia, botulinum toxin injections for focal dystonia, and levodopa for diurnal dystonia provide symptomatic relief for some patients. Despite this, treatment of both idiopathic and secondary dystonia remains inadequate for many patients. Baclofen, a pre-synaptic acting GABA agonist, has been reported to benefit dystonia in a number of retrospective studies. Dramatic improvement in symptoms, especially in gait, was found in almost 30% of 31 children and adolescents with idiopathic dystonia in one retrospective study using doses ranging from 40 to 180 mg daily. The response to baclofen of adults with focal dystonia is less dramatic. One series of 60 adults with cranial dystonia found sustained benefit in 18%. Smaller series have not consistently found significant benefit in adults. Baclofen has been used to treat several secondary dystonias: tardive dystonia has occasionally been reported to improve and there are isolated reports of improvement in dystonia occurring in Parkinson's disease and in glutaric aciduria.
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PMID:Baclofen in the treatment of dystonia. 151 73


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