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)

A dopamine agonist (apomorphine) and a cholinomimetic drug (physostigmine) were administered to five patients with blepharospasm and oromandibular dystonia (Meige disease). The effects of haloperidol and levodopa were also assessed. Apomorphine lessened and physostigmine aggravated the facial dyskinesias in all patients, while placebo injections had no consistent effect. Levodopa did not modify the symptoms, but haloperidol attentuated the facial dystonia. Dysfunction of the basal ganglia, characterized by a state of striatal dopamine preponderance, probably underlies the dystonic spasms in Meige disease. The prominent cholinergic enhancement of facial dyskinesias may distinguish this disorder pharmacologically from tardive dyskinesia, a differentiation which has practical therapeutic implications.
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PMID:Meige disease: striatal dopaminergic preponderance. 37 89

The clinical features of 12 patients with spasmodic dysphonia are described. In 11 patients, the voice was strained, harsh, tight, and tremulous, and was low in volume and pitch. Speech, which was sometimes barely intelligible, was interrupted by irregular stoppages and catches of the voice; it required considerable effort, and was accompanied by facial grimacing. The dysphonia was part of a more widespread neurological disorder (idiopathic torsion dystonia) in one case, while it coexisted with blepharospasm in another, and with postural tremor in two. There was a buccolingual hyskinesia in another of these 11 patients, but this may have been related to her previous drug regime. In the twelfth patient, who had a familial tremor, the voice was characterised by marked breathiness, with intermittent aphonia. The disorder is probably due to a focal dystonia of the laryngeal musculature, and this would be consistent with the type of neurological disorders that were associated with it in our cases. Symptomatic benefit follows the therapeutic division of one of the recurrent laryngeal nerves, in selected cases.
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PMID:Clinical aspects of spasmodic dysphonia. 65 Feb 44

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

Botulin A has been introduced for the treatment of local dystonia especially blepharospasm and torticollis. Three cases of blepharospasm and 5 cases of torticollis were treated with botulin injections directly into the muscles by a method presented in detail. Good effects were obtained in blepharospasm but very poor in torticollis, which may have been due to too low doses of the toxin and inadequate choice of injection points. The method is safe and in only 1 case transient weakness of the masseters was noted.
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PMID:[Botulin in the treatment of local dystonia]. 130 5

Intramuscular injections of botulinum toxin (Botox) are followed by a dose-dependent focal paresis which can be used to treat several focal movement disorders. Botox injections are recommended as effective for the treatment of blepharospasm, hemifacial spasm, and cervical dystonia (torticollis). Focal dystonias elsewhere (for example, writer's cramp) can often be treated with similar success. Others, such as oromandibular dystonia, are more difficult to treat. In the case of more generalized dystonias, some focal muscle spasms can be treated with success by local intramuscular injections. New indications are still being investigated, for example in focal tremors and spasticity. Side effects are in general slight and disappear at the end of toxin effect. In general, it is necessary to repeat the injections after a couple of months, due to a cessation of effect after regrowth of nerve terminals. New injections have similar effects even over years of treatment.
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PMID:[Treatment of movement disorders using botulinum toxin]. 141 87

We studied 115 Japanese patients with idiopathic cranial dystonia (Meige disease), using surface electromyography (EMG) focused on the orbicularis oculi muscles to classify the findings of the abnormal involuntary movements of this disease and to evaluate the pathophysiology of blepharospasm (BS). Surface EMGs at rest and at voluntary eyelid opening after eyelid closing were investigated. We found 62 (53.9%) patients exhibiting the overblinking type, 37 (32.2%) the tonic BS type, and 16 (13.9%) the normal type of behavior, considering the frequency of spontaneous blinking and presence of spasms. The present results suggest that BS is not a summation of blinking but a spatial and temporal extension of the orbicularis oculi muscle activity engaging in blinking, and the classification of the present study can support the investigation of the temporal characteristics of patients with this disease.
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PMID:Surface electromyographic study of idiopathic cranial dystonia focused on the orbicularis oculi muscles. 150 71

Fifty-two patients affected by focal dystonia or hemifacial spasm were treated with repeated injections of botulinum toxin. A clinical improvement was observed in all patients with blepharospasm; clinical benefit had a mean duration of 10 weeks. Clinical results were less impressive, but also favorable in patients affected by spasmodic torticollis and by hemifacial spasm. In the latter, the incidence of drug-induced paresis was much higher than that observed in patients with blepharospasm, even though the doses of toxin injected were significantly lower.
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PMID:Botulinum toxin as a treatment for blepharospasm, spasmodic torticollis and hemifacial spasm. 156 61

A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 years, her motor coordination had declined and she began to exhibit evidence of dementia, dystonia, dysarthria, and tremor. Motor incoordination, dystonia, and tremor progressed until the patient was wheel-chair-bound. Multiple tests were performed, including metabolic studies, magnetic resonance imaging, bone marrow biopsy, and electron microscopy of the buffy coat. Both bone marrow and buffy coat revealed inclusions in the cytosomes which were granular and osmiophilic. To our knowledge, this is the third case report of inclusion bodies found in patients with manifestations of Hallervorden-Spatz syndrome. These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology.
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PMID:Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome. 170 Jul 20

A nocturnal polygraphic study was performed on 10 patients with cranial dystonia (blepharospasm (BS) and oromandibular dystonia (OMD)). All patients showed impaired sleep efficiency and reduced slow and REM sleep, more marked in subjects with severe dystonia. Abnormal muscular activity decreased progressively with deeper sleep and during the first hours of the night, without disappearing. A disordered hypnic++ pattern and impaired motor control even during sleep are typical features in cranial dystonia.
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PMID:Sleep and cranial dystonia. 171 8

Although essential blepharospasm is considered to be a form of focal dystonia, many patients with blepharospasm have been noted to have concomitant depression, anxiety, phobias, hypochondriasis, and other emotional and behavioral disorders, suggesting a psychiatric component to the disease that is phenomenologically similar to obsessive-compulsive disorder (OCD) in terms of the repetitive, perseverative, and persistent nature of the symptoms. The Maudsley OCD questionnaire was administered to 21 patients with blepharospasm and 19 normal controls. The blepharospasm patients scored significantly higher than the controls (p less than .01). Although preliminary, the current study does support at least a phenomenological link between OCD and blepharospasm.
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PMID:Blepharospasm and obsessive-compulsive disorder. 173 75


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