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)

The authors describe 19 patients with severe tardive dyskinesia, 11 of whom had a diagnosis of affective or schizoaffective disorder rather than schizophrenia. Most patients had been receiving long-term neuroleptic treatment with few interruptions and had received only one or two different neuroleptics. Frequent eye blinking was the most prevalent prodromal sign of tardive dyskinesia (in seven patients). Four subtypes of tardive dyskinesia could be distinguished: choreoathetosis, tardive dystonia, blepharospasm, and tardive akathisia. Optimal pharmacotherapy most often consisted of combinations of neuroleptics, lithium carbonate, benzodiazepines, and antiparkinsonian drugs. However, after an average of 62 months, only five patients had markedly improved.
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PMID:Clinical forms of severe tardive dyskinesia. 288 62

A patient with schizoaffective disorder and anticholinergic refractory neuroleptic-induced parkinsonism manifested a marked increase of parkinsonian symptoms and dystonia after ECT. This is the first report in the literature of such an unusual reaction of parkinsonian and dystonic symptoms to ECT.
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PMID:An unusual effect of ECT on drug-induced parkinsonism and tardive dystonia. 891 80

Polymorphic multidrug resistant protein 1 (MDR1) transports drugs against a concentration gradient across the blood-brain barrier and reduces their accumulation in the brain. MDR1 may therefore influence antipsychotic brain availability contributing to inter-individual differences in treatment response and adverse effects, regardless of plasma concentrations. In the present study we investigated the influence of two common MDR1 polymorphisms on the improvement of psychopathological symptoms and occurrence of extrapyramidal side effects (EPS) in Slovenian schizophrenia patients acutely treated with risperidone. A total of 59 clinically well defined patients with first episode schizophrenia spectrum disorders or after tapering their maintenance treatment were genotyped for MDR1 C3435T and G2677T/A. Steady-state plasma concentrations of risperidone active moiety (sum of risperidone and the 9-hydroxyrisperidone) were determined. G2677T/A and C3435T genotypes were not associated to psychopathological symptoms, efficacy of treatment and risk for parkinsonism. Marginal associations with akathisia (p=0.039 and p=0.042, respectively) and dystonia (p=0.013 and p=0.034, respectively) were observed for both G2677T/A and C3435T genotypes. However, higher AIMS and BARS scores were observed only in heterozygous carriers of G2677T/A and C3435T polymorphisms and there was no tendency of gene-dose effect. The present study does not suggest a major influence of MDR1 G2677T/A and C3435T polymorphisms on treatment response during short-term risperidone therapy in patients with schizophrenia or schizoaffective disorder.
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PMID:MDR1 gene polymorphisms and response to acute risperidone treatment. 2006 Aug 71

Clozapine is a second-generation antipsychotic typically reserved for refractory psychotic disorders due to its high-risk side effect profile to include agranulocytosis, with its attendant need for regular blood draws. While reports of extrapyramidal symptoms (EPS), including acute dystonic reactions, are exceedingly rare, we present the case of a 44-year-old male with a long-standing history of treatment-resistant schizoaffective disorder and no history of EPS who experienced an acute buccal dystonic reaction in the setting of clozapine initiation and discontinuation of depot and oral risperidone. This case report presents one of the few documented episodes of acute dystonic reactions occurring in the setting of clozapine administration. Based upon the patient's history and the dosing time line of the medications, we propose that an interaction between the clozapine and residual risperidone was responsible for the development of the acute buccal dystonia.
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PMID:An Unexpected Circumstance: Acute Dystonic Reaction in the Setting of Clozapine Administration. 2909 58

Dopa-responsive dystonia is a rare childhood neurological disorder characterized by asymmetric dystonia, predominantly of the lower limb, that responds excellently to levodopa replacement therapy. Although it is known that behavioral changes, such as depression, anxiety disorders, and sleep disturbances, typically follow onset of motor symptoms, there is limited literature on the psychiatric symptoms of this disorder. This report describes a novel case of a 20-year-old male with a history of dopa-responsive dystonia and schizoaffective disorder who presented with both dystonia and psychosis after a period of medication noncompliance. This case provides a reference for the management of psychosis in patients with dopa-responsive dystonia and highlights the need for more research on the nonmotor symptoms that accompany this neurological disorder.
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PMID:Management of Psychosis in a Patient with Probable Dopa-Responsive Dystonia. 3001 6