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)

Dystonia is a neurologic disorder characterized by abnormal, involuntary movements causing twisting and turning postures; it is postulated to be a disorder of central motor processing. The dystonias, when classified by region of the body involved, have been characterized as focal, segmental, and generalized. Focal dystonia can affect jaw mechanics, leading to forceful contraction of the jaw muscles and resulting in inappropriate deviation of the jaw. Localized injections of botulinum toxin have been used successfully in the management of other focal or segmental dystonias. We have treated 20 oromandibular dystonia patients with botulinum toxin. Six patients had only jaw and tongue involvement; 11 had blepharospasm and jaw involvement; and three had jaw involvement as part of a more generalized dystonia. Five patients had been diagnosed originally and treated as having temporomandibular joint syndrome. All but one of the patients had improvement of their symptoms with the toxin injections. The patients averaged 47% improvement with the injections.
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PMID:Botulinum toxin injection for the treatment of oromandibular dystonia. 291 31

Simulated gait abnormalities involve weakness of 1 or both legs or ataxia and trembling. The patterns rarely duplicate those of neurologic disability and are usually promptly suspected of being functional by the experienced clinician. As with other pseudoneurologic signs, normal underlying neurologic function must be demonstrated. A dramatic cure is the best diagnostic evidence, and a bias toward organic etiology is warranted by a relatively greater risk in delayed diagnosis. Dystonia and chorea are the signs most likely to be mistaken for functional conditions. While CT and MRI now provide a welcome diagnostic safety net, the variety of hysterical gaits, and probably the effectiveness of "moral" treatment, does not appear to have changed appreciably in the past century.
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PMID:Hysterical gait disorders: 60 cases. 292 86

Dystonia is mysterious and its pathophysiology is uncertain. The fundamental motor abnormality is an abnormality of muscle command signals, such that the wrong agonists may be activated for too long, there is abnormal co-contraction of agonist and antagonists, and there is excessive and misdirected action of synergists and postural fixators. The result is action dystonia. In addition, muscle spasms may occur spontaneously. The peripheral motor apparatus, the corticomotoneurone pathway, and (as far as is known) the proprioceptive feedback machinery, are all intact in primary dystonia. However, a defect of interneuronal machinery has been identified in both the brainstem and spinal cord. In blepharospasm there is hyperexcitability of the lower brainstem interneurones responsible for the R2 component of the blink reflex. In the dystonic arm there is loss of the later phases of Ia reciprocal inhibition from extensors to flexors. Both deficits may be due to loss of normal basal ganglia inputs onto interneurones. The known sites of focal lesions that may cause symptomatic dystonia all impair basal ganglia output. However, whether such abnormal interneuronal function is sufficient to explain dystonia is not known. Among many unanswered questions are 1) are the cortical instructions for movement specified correctly, and 2) what is responsible for the spontaneous dystonic spasms?
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PMID:The physiology of idiopathic dystonia. 331 55

We studied the features of dystonia in 9 patients with untreated idiopathic Parkinson's disease and in 56 patients on sustained treatment with L-dopa. Dystonia was seen as an initial symptom in patients with both early- and late-onset Parkinson's disease and included action dystonia of the limbs and cranial dystonia. Although the coexistence of parkinsonism and dystonia suggests a common pathophysiology, antiparkinsonian drugs did not consistently influence dystonic spasms. L-dopa-induced dystonia was seen as an off-period, biphasic, or peak-dose phenomenon. Each type showed a distinctive pattern of localization of dystonic spasms, possibly reflecting neurochemical aspects of basal ganglia somatotopy. Neuropharmacological studies performed in 12 patients suggest that off-period dystonia is genuinely induced by L-dopa and best relieved by antiparkinsonian agents.
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PMID:Dystonia in Parkinson's disease: clinical and pharmacological features. 334 68

Spastic dysphonia is a syndrome often producing a strain-strangle voice. We have previously classified most of these patients as having focal laryngeal dystonia, a disorder of central motor processing. In a study of 1,280 cases of dystonia registered at the Dystonia Clinical Research Center at the Columbia-Presbyterian Medical Center, we found 110 patients who had vocal cord involvement. These patients had historical information evaluated for age of onset (mean 34.6 years), duration of symptoms (mean 13.8 years), sex (1.4:1 female to male) family history (positive in 23%), and primary (66%) and secondary (34%) etiology; neurological evaluation for other dystonic involvement (25% with segmental cranial involvement, 23% with generalized dystonia) or tremor (irregular 23%, regular 6% on EMG). Treatment options were evaluated and included speech therapy, psychotherapy, biofeedback (with limited success), systemic medication (limited success except in abductor cases), nerve section (with late failure rate), and the use of botulinum toxin (improvement in all 34 injected patients).
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PMID:Clinical and laboratory characteristics of focal laryngeal dystonia: study of 110 cases. 337 39

High-affinity (3H)choline uptake was compared in cultured skin fibroblasts derived from 15 normal volunteers and 21 unrelated individuals with primary childhood-onset dystonia. Dystonia cell lines did not differ significantly from the control cell lines, regardless of whether they were derived from individuals exhibiting a positive or negative response to anticholinergic drug therapy. The analysis was extended to members of a large non-Jewish kindred characterized by apparent autosomal dominant inheritance of dystonia. The rate of high-affinity [3H]choline uptake in cells from the affected members of the family did not differ significantly from that measured in the cell lines from unaffected individuals. The results suggest that a generalized cellular defect in high-affinity choline uptake is not involved in the pathogenesis of dystonia.
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PMID:High-affinity choline uptake in cultured skin fibroblasts from individuals with dystonia. 340 Apr 92

We reviewed the records of all patients with paroxysmal nonkinesigenic dystonia seen at Dystonia Clinical Research Center. Of the total of 25 patients, three subgroups based on etiology were discerned: primary sporadic (7 patients), psychogenic (11 patients), and symptomatic (7 patients). There were no patients with primary paroxysmal dystonia with a family history of a similar disorder. Although many of the characteristics of our sporadic cases were similar to those of familial paroxysmal dystonia reported in the literature, numerous differences were noted including adult onset, female predominance, and variability in the duration and frequency of attacks. In certain cases an overlap with PKC was found. Clonazepam and acetazolamide were effective in several patients.
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PMID:Paroxysmal non-kinesigenic dystonia. 340 Apr 99

The natural history and response to different treatments have been evaluated in 264 patients with blepharospasm. The mean age of onset was 55.8 years and there was a female preponderance of 1.8 to 1. Dystonia elsewhere was found in 78% of patients, usually in the cranial-cervical region, and appeared to follow a somatotopic progression. A family history of blepharospasm or dystonia elsewhere was found in 9.5% of cases, which suggests a genetic predisposition. Ocular lesions preceded the onset of blepharospasm in 12.1% of cases. The response to drugs was inconsistent, although initial improvement was experienced by one fifth of patients treated with anticholinergics. Twenty-nine bilateral facial nerve avulsion operations were performed with benefit in 27 cases; but recurrences appeared in 22, on average one year after surgery. Botulinum toxin injections were performed in 151 patients. Significant improvement was achieved in 118 cases. Mean duration of benefit was 9.2 weeks. Transient ptosis and diplopia were the commonest side effects.
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PMID:Blepharospasm: a review of 264 patients. 340 84

Twenty patients with tongue tremor associated with essential tremor are reported. Patients were unaware of the tongue tremor, and voice disturbance was a complaint in only one patient. Three patients had an isolated tongue tremor. Hand tremor was present in 16 patients. Dystonia, myoclonus, and tremor of other body parts were present in some patients. Three patients had a mild-to-moderate dysarthria. The frequency of tongue tremor (4-8 Hz) was identical to hand tremor. The intravenous infusion of ethanol suppressed tongue tremor. Therapy with propranolol, primidone, or clonazepam also reduced tongue tremor amplitude. Tongue tremor is a common finding in some essential tremor patients but often there are no symptoms.
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PMID:Essential tongue tremor. 350 57

We studied various forms of dystonia associated with Parkinson's disease (PD) in 207 patients who were on levodopa therapy for more than 1 year. Dystonia, sometimes more than one type, occurred in 63 (30%). In five patients, dystonia preceded initiation of treatment. Fifteen patients had peak-dose dystonia, 33 had early-morning dystonia, and 20 had "off-period" dystonia. The different clinical features of the dystonias are presented and compared. Findings indicate that dystonia is a frequent feature of levodopa-treated PD patients.
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PMID:Forms of dystonia in patients with Parkinson's disease. 358 17


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