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)

Clonazepam or 5-(2-chlorphenyl)-1, 3-dihydro-7-nitro-2H-1,4benzodiazepin-2-one, is a close structural and pharmacological relative of nitrazepam. It has a broad spectrum of activity against the various types of epilepsy, and is effective in many patients whose condition has proved resistant to other antiepileptic drugs. Its chief uses are in status epilepticus, in which intravenous clonazepam may replace diazepam as the drug of first choice, and in the minor motor seizures of childhood, particularly petit mal absences, the Lennox-Gastaut syndrome and infantile spasms. Clonazepam is also at least as effective as current treatment in psychomotor and myoclonic epilepsies, but seems unlikely to replace phenytoin and the barbiturates in the treatment of grand mal or focal motor seizures except in patients resistant to standard therapy. Initial success with clonazepam can be followed by loss of effect, but benefit can often be restored, at least initially, by temporary interruption and re-institution of treatment. Side-effects are common with clonazepam. Most patients experience drowsiness and fatigue, which are frequent causes of withdrawal, together with lesser incidences of ataxia, dystonia, hypotonia, and hyperactivity. These effects usually disappear with continued therapy, and are minimised by gradual introduction of the drug over 2-4 weeks. Hypersalivation and excessive bronchial secretion may be a problem in children and infants.
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PMID:Clonazepam: a review of its pharmacological properties and therapeutic efficacy in epilepsy. 97 34

22 children who required respiratory aid (LPPV, CPAP) in the newborn period were followed up to the age of 12 to 36 months. The birth weight ranged between 1050 and 4100 g and the duration of artificial ventilation ranged between 36 and 698 hours. Neurological development of 17 children was completely normal, whilst four showed noticeable hyperkinesis or slight dystonia and one child developed spastic diplegia of a moderate degree, which was almost completely overcome by physiotherapy. The mean developmental quotient (Eggers-Wagner) ranged between 76 and 127.
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PMID:[The development of infants subjected to aided respiration in the newborn period (author's transl)]. 99 40

Thirty-nine patients with the idiopathic blepharospasm-oromandibular dystonia syndrome are described. All presented in adult life, usually in the sixth decade; women were more commonly affected than men. Thirteen had blepharospasm alone, nine had oromandibular dystonia alone, and 17 had both. Torticollis or dystonic writer's camp preceded the syndrome in two patients. Eight other patients developed toritocollis, dystonic posturing of the arms, or involvement of respiratory muscles. No cause or hereditary basis for the illness were discovered. The evidence to indicate that this syndrome is due to an abnormality of extrapyramidal function, and that it is another example of adult-onset focal dystonia akin to spasmodic torticollis and dystonic writer's cramp, is discussed.
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PMID:Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome). A variant of adult-onset torsion dystonia? 101 Oct 31

Anticonvulsants cause dyskinesias more commonly than has been appreciated. Diphenylhydantoin (DPH), carbamazepine, primidone, and phenobarbitone may cause asterixis. DPH, but not other anticonvulsants, may cause orofacial dyskinesias, limb chorea, and dystonia in intoxicated patients. These dyskinesias are similar to those caused by neuroleptic drugs and may be related to dopamine antagonistic properties possessed by DPH.
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PMID:Anticonvulsant-induced dyskinesias: a comparison with dyskinesias induced by neuroleptics. 101 Oct 32

Dantrolene sodium has been given to 45 patients suffering from dyskinetic syndromes: 33 were suffering from spastic syndromes, either secondary to cerebral lesions at birth, or to other cerebral lesions, or to cord lesions; 9 were affected by infantile dystonic syndromes; 1 by dystonia muscolorum deformans and the last 2 patients were suffering from parkinsonism. The best dosage schedule was individual and ranged from 50 mg to 300 mg a day. In this range, the majority of the spastic patients showed reduction of spasticity, unrelated with the site of pathology: a slight one in 12 patients, a moderate one in 9 and a marked one in 2. On the contrary, slight improvement has been noticed in only two of the patients suffering from dystonic syndromes. In no case side effects has been noticed. In all patients who underwent slight or moderate improvement only, we tried to obtain better results on spasticity by growing the dosage schedules; but we have always noticed side effects, that is weakness or drowsiness and, sometimes, urinary uncontinence. Moreover 2 patients showed evidence of transitory metabolic side effects. Therefore our experience shows that dantrolene sodium is an useful drug into the therapy of spasticity, even if often a slight of moderate improvement only is achieved. Slow increase in dosage schedule, repeated laboratory controls and alternate periods of treatment and suspended treatment should be observed.
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PMID:[Clinical study of dantrolene sodium in the treatment of spastic and dystonic syndromes]. 102 44

67 cases of various functional disorders of the diencephalon were examined by EMI scanner. The patients were composed of 38 cases of parkinsonism, 7 cases of thalamic syndrome, 6 cases of choreoathetoid movement, 2 cases of dystonia, 11 cases of involuntary movement of unknown etiology and 1 case of torticollis, tic, and ballismus, respectively. In parkinsonism, 79% showed diffuse cerebral atrophy, 5% had focal low density in the substantia nigra and the thalamus, whereas 16% remained normal. Pre- and postoperative assessment with CT scan was briefly discussed with reference to stereotactic surgery of the diencephalon.
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PMID:Role of computerized transverse axial tomography on stereotactic surgery of the diencephalon. A preliminary report of 67 cases. 105 97

In summary, then, without consideration of specific circuits or transmitter agents, one can conceive of a hypothetical model that involves both learning and the functional nature of the defect in torticollis and focal dystonia to describe the results obtained. The model must be further elaborated upon and tested, preferably in a quantitative manner. Naturally, the specific finding of a defective transmitter agent (e.g., GABA) such as described in parkinsonian syndrome (dopamine) or the interruption of a specific pathway that causes and improves a dyskinesia is desirable. In this chapter we have described the use of integrated EMG feedback for the treatment of focal dystonia or spasmodic torticollis. Although we have achieved significant results, it remains clear that further research in the treatment of these disorders is required. However, since this treatment does not require medication or surgery and the possibility for significant improvement is greater than 40%, it should be attempted in patients with focal dystonia or torticollis prior to other forms of therapy. SFT should be considered as a standard mode in the medical armamentarium used for the treatment of these disorders, either primarily or in conjunction with other forms of medical, surgical, and physical therapy.
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PMID:Integrated EMG feedback in the management of spasmodic torticollis and focal dystonia: a prospective study of 80 patients. 108 48

On the basis of a summarization of long-term studies of the different types of tonic reactions in normals and patients with different forms of dystonia, the author describes 7 types of such reactions. The paper deals as well as with possible physiological and pathophysiological mechanisms of their occurrence and the significance of these data for the theoretical analysis of the regulation of the human muscular tone.
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PMID:[Clinical electromyography and several problems in the neurophysiology of muscle tonus in man]. 108 99

Among 1,152 psychiatric inpatients who received a phenothiazine, a butyrophenone, or a thioxanthene, 116 developed dystonia attributed to one or more of these drugs. The highest frequencies of dystonia occurred among recipients of haloperidol and the long-acting injectable fluphenazines. For all patients at risk, dystonia was more common in men and in younger patients. For chlorpromazine, high doses, male sex, and low age were each positively associated with dystonia.
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PMID:Drug-induced dystonia. 111 13

A family study of 32 patients with torsion dystonia has shown at least two forms of generalized dystonia with onset in childhood. These two forms, an autosomal dominant and an autosomal recessive, are clinically indistinguishable. There were at least three families and probably about six to eight patients with the autosomal recessive variety. The remaining nine to 11 patients with generalized childhood dystonia are thought, because of a probable paternal age effect, to be examples of new dominant mutations. Since fitness with childhood onset is 1/20 of normal, most childhood dominant cases appear sporadically. Most of the other 15 patients (12 with onset in adult life) appear to have a non-genetic torsion dystonia, although an example of a benign adult-onset dominant form associated with a tremor has been observed. It is concluded that there are at least two forms of genetic torsion dystonia, an autosomal recessive form with onset in childhood, which, on evidence from America, is particularly common in Ashkenazi Jews, and one or more dominant forms, with onset in childhood or adult life. The majority of adult-onset isolated cases of idiopathic torsion dystonia seem to be due to exogenous but unidentified causes.
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PMID:A genetic study of torsion dystonia. 112 Oct 20


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