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)

This report presents observations in 160 patients undergoing chronic spinal cord stimulation for various disorders of the motor system and compares the results obtained using older conventional two-electrode bipolar stimulation with a newly developed four-electrode multiple level system. Improvement was noted in 84% of the 75 patients with cerebral palsy, 67% of the 42 patients with dystonia, 62% of the 21 patients with torticollis and 73% of the 22 patients with post-traumatic neurologic loss. Significant improvements were noted when comparing the two-electrode system with the new multiple level electrode. Marked to moderately improved patients increased from 57 to 84% in cerebral palsy, from 44 to 82% in dystonia, from 53 to 75% in torticollis and from 53 to 80% in dystonia, from 53 to 75% in torticollis and from 53 to 80% in posttraumatic neurologic conditions. There was a corresponding marked drop in unimproved patients in each condition.
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PMID:Multi-lead spinal cord stimulation for control of motor disorders. 697 82

Anticholinergics are one of the most common treatments used in adult-onset focal dystonias although their general efficacy has not been proven. We have investigated the effects of intravenous administration of atropine, benztropine and chlorpheniramine, in comparison to normal saline, in 20 patients with adult-onset focal dystonias (spasmodic torticollis (9), cranial dystonia (6), writer's cramp (5), and have retrospectively reviewed the notes of 78 patients (spasmodic torticollis (38), cranial dystonia (25), writer's cramp (15), who had received chronic oral anticholinergic therapy in varying doses at some time in the past. Patients with spasmodic torticollis and writer's cramp showed no consistent change with any of the intravenous drugs, while the few with cranial dystonia who improved usually did so at the expense of drug-induced sedation. The natural variability of these disorders was evident in the response to normal saline, which caused changes in the scores for severity of the involuntary movements of 20% or more in some patients. Only 8 of the patients who had received chronic oral therapy obtained more than mild benefit, and in 3 of them this improvement was transient. We conclude that cholinergic mechanism are not of general or prime importance in the pathogenesis of adult-onset focal dystonias. However, each new patient warrants a trial of chronic oral anticholinergic therapy in view of the occasional useful responses obtained with these drugs.
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PMID:Anticholinergics in adult-onset focal dystonia. 711 38

Two groups totaling 67 patients with idiopathic focal, segmental, and generalized dystonia, including torticollis, were compared with normal controls to determine whether there was a difference in the frequency of A, B, and C locus human leukocyte (HLA) antigens. The results indicated no statistically significant deviations in HLA antigen frequencies between the patients and the normal controls. Thirteen of the patients with idiopathic torsion dystonia were compared with normal controls for DR locus antigens. A trend of increased DR3 antigens observed in the patients may be significant. HLA genotyping of parents and children in nine families was also studied to determine if an HLA-linked factor could be related to the dystonic syndrome in the children. The results were indeterminate, suggesting that further family studies are required to resolve this issue.
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PMID:Human leukocyte anitgen in torticollis and other idiopathic dystonic syndromes. 732 7

Over recent years botulinum toxin type A has emerged as a safe and effective treatment for a number of previously refractory conditions associated with excessive muscle activity. The list of indications is expanding, but at present it is generally considered to be the treatment of choice for focal dystonias such as blepharospasm, torticollis, laryngeal dystonia, and oromandibular dystonia, as well as hemifacial spasm, strabismus, and some forms of limb spasticity. Carefully targeted intramuscular injections of a small amount of the toxin block the release of acetylcholine at the neuromuscular junction, producing a chemical denervation, with the aim of reducing excessive muscle activity without producing significant functional weakness. In some situations electrophysiological assessment and localisation of the muscles for injection is necessary. Treatment is symptomatic, with effects lasting 3 to 4 months and most patients requiring up to 4 injections per year to maintain the beneficial effect. Appropriate use of the toxin requires both an understanding of the physiological action of the potential muscles involved in each situation, together with a knowledge of the likely dose necessary to reduce muscle activity to the required level. Botulinum toxin represents a major advance in the management of these conditions, many of which responded poorly to previously available forms of therapy.
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PMID:Botulinum toxin in clinical practice. 753 96

Although diphenhydramine hydrochloride is known to eliminate or reduce the symptoms of dystonia in human patients with acute dystonic reactions and idiopathic torsion dystonia, its mechanism of action is still unclear. In the present study, we show that the antihistamine properties of diphenhydramine may contribute to its beneficial effects. Acute dystonic reactions were produced in rats with unilateral microinjection of haloperidol into the red nucleus as previously described. Similar to the pattern in humans, this effect could be attenuated by coadministration of diphenhydramine. Unilateral microinjection of histamine itself into the rat red nucleus produced dystonic postures (torticollis) in a dose-dependent manner, demonstrating that a histamine dysfunction could contribute to the pathophysiology of dystonia. The torticollis produced by histamine could be significantly attenuated with coadministration of the H1 antagonists diphenhydramine or pyrilamine or the H2 antagonist cimetidine. These effects are thought to be mediated through the red nucleus because significantly more torticollis was observed when histamine was injected into the red nucleus rather than surrounding mid-brain areas, the substantia nigra, or the lateral ventricle. The present data, taken together with studies in humans, suggest the involvement of histamine in some types of dystonia. Furthermore, the red nucleus and related motor pathways may have a more important role in dystonia than previously thought.
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PMID:Evidence for the involvement of histamine in the antidystonic effects of diphenhydramine. 755 45

Dystonia as cause of pharyngo-laryngeal motility disorders has not been adequately considered in most clinical ENT practices. This case study of a patient with spasmodic torticollis, Meige's syndrome and pharyngo-laryngeal motility disorder was found to be due to dystonia as the underlying cause. The possibility of local symptomatic therapy with botulinum toxin injections has currently provided the physician with an effective means for alleviating the disorder.
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PMID:[Dystonia as the cause of pharyngolaryngeal motility disorders]. 755 8

A prospective open study of botulinum toxin A treatment for patients with various movement disorders at Siriraj Hospital, Mahidol University was analysed to evaluate its efficacy. The grand total of 900 patients comprised of a) 592 patients (65.78 per cent) with hemifacial spasm; b) 92 patients (10.22 per cent) with occupational cramp; c) 79 patients (8.78 per cent) with blepharospasm and Meige syndrome; d) 72 patients (8.00 per cent) with spasmodic torticollis; e) 19 patients (2.11 per cent) with hemidystonia and generalised dystonia; f) 11 patients (1.22 per cent) with spasmodic dysphonia; g) 10 patients (1.11 per cent) with spastic hemiparesis; and h) 25 patients (2.78 per cent) with miscellaneous group (i.e. tics, Gilles de la Tourette, facial myokimia, benign fasciculation, etc.). The results of treatment for hemifacial spasm were classified as excellent in 486 patients (82.09 per cent), moderate improvement in 60 patients (10.14 per cent), mild improvement in 39 patients (6.59 per cent) and no improvement or worse in 7 patients (1.18 per cent). There were complications of mild transient facial weakness in 50 patients (8.45 per cent) and mild ptosis in 12 patients (2.02 per cent). The effect of botulinum toxin treatment lasted 3-6 months. In occupational cramp and spasmodic torticollis the good response rate was around two-thirds of all patients, whereas, blephalospasm, spasmodic dysphonia, spastic hemiparesis and tics responsed in 79-88 per cent of the patients. Botulinum toxin A injection is thus a simple, safe, and effective out-patient treatment for patients with various kinds of movement disorders but it is a costly therapy.
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PMID:Treatment of various movement disorders with botulinum A toxin injection: an experience of 900 patients. 756 52

We evaluated the prevalence of focal dystonias in the western area of Tottori Prefecture in Japan. The population of the area was 244,935 on October 1, 1992. Because four patients with blepharospasm and three patients with writer's cramp did not visit any hospitals or clinics in 1993 and did not reply to our question letter, we could not confirm their present condition: with or without focal dystonia in 1993. Four patients with facial dystonia including blepharospasm and oromandibular dystonia, seven with spasmodic torticollis, and four with writer's cramp were observed. The prevalence of focal dystonias was 6.12 per 100,000 persons, which may be lower than that in western countries. Although the reasons for this difference are still unclear, a genetic factor may be one implication.
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PMID:Prevalence of focal dystonias in the western area of Tottori Prefecture in Japan. 872 61

We report a family with autosomal dominant type hereditary juvenile dystonia-parkinsonism in which eight members in three generations exhibited parkinsonism, sleep benefit, marked efficacy of levodopa, wearing-off phenomenon, and dopa-induced choreic dyskinesia. However, one case showed mainly dystonic movement that worsened after administration of levodopa. The patients in this family showed neck dystonia, such as torticollis and retrocollis, in addition to foot dystonia and other dystonic movement, such as frequently lifting the thigh. From the family history and clinical findings, these patients are considered to have a specific form of hereditary dystonia-parkinsonism.
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PMID:A family with hereditary juvenile dystonia-parkinsonism. 756 30

We report a patient with a progressive motor disorder dominated by pyramidal signs in all four extremities and cervical dystonia in the form of torticollis, who had imaging features of cervical cord tumor on magnetic resonance imaging (MRI) scanning. Ependymoma was the final diagnosis by histology. Cervical dystonia presenting as a manifestation of an identified focal central nervous system (CNS) lesion is infrequent. We believe our patient to be the first adult example of cervical cord tumor giving rise to cervical dystonia. Adding this entity to the list of differential diagnosis of torticollis is considered, and its mechanisms are discussed.
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PMID:Cervical dystonia due to spinal cord ependymoma: involvement of cervical cord segments in the pathogenesis of dystonia. 756 33


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