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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The spontaneous occurrnce of blepharospasm and dystonic movements in face muscles, particularly those of the perioral and mandibular regions, has been named Meige's disease. Other dystonic features as spasmodic torticollis, dysphagia, spasmodic dysphonia and segmental dystonia of the limbs may, eventually, be present in the same patient. There is very little knowledge about the pathology of this disease. Many hypotheses concerning the pathophysiology of this entity have been put forward, most of them correlating the clinical response to several drugs with known action on the neurotransmitter system of the brain. There are some evidences that it may exist a dopaminergic preponderance in the disease. In the nigro-striatal pathway, one of the retrograde loops in the feed-back control of dopamine synthesis by nigral neurons is dependent on GABA. Increasing GABA activity through GABA agonists that cross the blood-brain barrier could result in a decreased dopaminergic action in the nigro-striatal pathway and, thus, ameliorate the dystonic symptoms which might have been produced by its increased function. We have used baclofen, a GABA-agonist drug, to treat five patients with Meige's disease, in a single-blinded trial. These were four females and one male, with age ranging from 50 to 63 years. The drug was started at 20mg/day, being increased by 10mg each three days reaching a maximum dose of 70mg/day. One of the patients showed marked improvement of blepharospasm and orofacial dystonia and a second patient had a moderate improvement in the same symptoms. Another patient showed moderate improvement of limb dystonia, but had no benefit in the facial movements.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Treatment of Meige disease with a GABA receptor agonist]. 409 37

Personal study of 137 individuals with torsion dystonia (TD) in 92 families, and review of 476 reported cases indicate that there are at least two hereditary forms of TD in addition to acquired dystonia. Autosomal recessive TD, with onset generally between the ages of 4 and 16 and rapid initial course, has been found in highest frequency in the Askenazim. Autosomal dominant dystonia is more variable in its time of onset and course and torticollis is frequently an early symptom. Families with this form are present in several populations. The psychometric performance of patients with autosomal recessive TD is superior to that of controls. In contrast, families in which the dominant form is segregating often contain individuals with below average IQ but this may be a social effect and reflect a limited choice of mates by members of such families.
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PMID:Genetics, geography and intelligence in the torsion dystonias. 517 57

Clinical, EMG, genetic and CT investigations were performed on 16 subjects suffering from Torsion Dystonia. We obtained the following results: i) genetically most cases were sporadic, only two could be considered autosomic dominant; ii) one of the pedigrees, with many patients, confirmed that spasmodic torticollis is not a distinct form from that of Dystonia Muscolorum Deformans; the two forms must be included in one disease called "Torsion Dystonia", as maintained by some Authors; iii) we found that the various drugs employed, rarely produced improvement, although benzodiaze4pines have given some benefit; iv) CT findings were not specific, though useful for differential diagnosis.
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PMID:[Clinical and CT aspects of muscular dystonias]. 612 81

We have investigated the effects of the intravenous administration of three anticholinergic drugs (atropine, benztropine, and chlorpheniramine) with variable antihistaminic properties in comparison with saline in adult-onset focal dystonias. In many patients, the severity of the involuntary movements varied from one observation to the next. Patients with spasmodic torticollis, writer's cramp, and segmental dystonia showed little change with any of the active drugs. The occasional individual who improved by more than 20% did so at the expense of drug-induced drowsiness. We conclude that cholinergic mechanisms are not of general importance in the pathogenesis of these conditions. However, the beneficial response to benztropine and chlorpheniramine in two of 20 patients emphasizes the continuing need for a trial-and -error approach in the therapy of these focal dystonias.
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PMID:Acute anticholinergic action in focal dystonia. 613 43

The results of stereotaxic thalamotomy in 55 cases of dystonia are presented. The 16 cases with generalized dystonia were of varied pathogenesis, only 7 being typical of the idiopathic form of adolescent onset. Four of the 16 cases benefited considerably, but the others showed little or no lasting improvement. These results are in contrast to those obtained by Cooper (1976). Of the 27 cases with segmental or focal dystonia, 22 had spasmodic torticollis; 16 of these had bilateral thalamotomies, and 62 per cent were much improved. The incidence of operative complications, in particular dysarthria, was high following bilateral lesions. The incidence of hemiparesis, known to have persisted for more than a year, was 15 per cent. This complication was as frequent in those with unilateral as with bilateral thalamotomies. The incidence of dysarthria in those without preoperative bulbar dystonia was much higher in those who had bilateral lesions (56 per cent) as compared with those who had unilateral lesions (11 per cent). The group that has been identified as benefiting greatly from stereotaxic surgery comprises those with hemidystonia following unilateral brain damage. In these patients, symptomatic improvement in abnormal movement is striking and the incidence of operative side effects from unilateral lesions is low.
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PMID:Stereotaxic thalamotomy in 55 cases of dystonia. 636 Mar 6

Torticollis is a clinical sign of either CNS or musculoskeletal dysfunction. Thorough clinical and neuroradiographic evaluation is indicated for determination of the source, course, and exact nature of the deformity before a considered approach to surgical management is undertaken. Torticollis of neurogenic origin is managed by surgical decompression of the brainstem or cervical spinal cord when indicated, as in the presence of hydrocephalus, the Arnold-Chiari malformation, syringobulbia , syringomyelia, colloid cyst of the third ventricle, or neoplasms in the third ventricle, posterior fossa, or cervicomedullary junction. In progressive and medically refractory cases of spasmodic torticollis, neuroablative procedures, neuroaugmentive procedures, selective muscle excisions, and radical cervical muscle excisions have been used to control the dystonia. Torticollis of musculoskeletal origin is often secondary to or associated with trauma, although congenital craniocervical anomalies may be a predisposing factor. The primary goals of surgery for craniovertebral or upper cervical spine deformity are reduction of the malalignment; decompression of the brainstem, cervical spinal cord, and/or nerve roots if necessary; and stabilization of the upper cervical spine.
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PMID:Surgical management of torticollis. 671 89

Eight patients suffering from various forms of idiopathic dystonia are described whose initial referral was for an orthopaedic opinion. The diagnoses of these patients, who were seen over a two-year period, comprised dystonia musculorum deformans, dystonia of the foot, spasmodic torticollis and occupational cramps. Although various musculoskeletal sequelae often occur, the primary underlying neurological cause of these unusual conditions is emphasised.
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PMID:The idiopathic dystonias. A note on their orthopaedic presentation. 682 2

A patient with Meige syndrome associated with spasmodic torticollis was treated with benztropine mesylate (Cogentin) at doses of 12-16 mg daily. Marked suppression of both oromandibular dystonia and the torticollis was obtained. Mild impairment of recent memory was the major side effect. Peripheral anticholinergic side effects were controlled by the concomitant administration of ambenonium chloride (Mytelase) 15 mg daily.
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PMID:Meige syndrome: relief on high-dose anticholinergic therapy. 685 Jun 51

Stimulation of the thalamus and internal capsule with Medtronic deep brain stimulation electrodes produced improvement in pain, hemiparesis, dystonia, torticollis, tremor. speech impairment and epilepsy. Stimulation at voltages above or below clinically effective levels (e.g., 6 V, 0.3 ms, 74 Hz) resulted in a loss of clinical efficacy. Somatosensory evoked responses (short and long latency) and depth electrode recordings were helpful in localisation and 'biocalibration' of electrical stimulation.
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PMID:Reversibility of chronic neurologic deficits. Some effects of electrical stimulation of the thalamus and internal capsule in man. 697 64

Patients with dystonia, spinocerebellar and cerebellar ataxia and spasmodic torticollis have a reasonable chance of being significantly aided in their control of motor function and neurogenic bladder by electrical stimulation of the cervical or thoracic spinal cord. This mode of therapy has the advantages that it is not destructive of neurological tissue, effects can be varied by altering the intensity and rate of the stimulus and preliminary testing with externalization of the electrodes is predictive of the effects of chronic stimulation.
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PMID:Treatment of patients with degenerative diseases of the central nervous system by electrical stimulation of the spinal cord. 697 77


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