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

The origins of dystonia musculorum deformans are now considered to be organic. However, misdiagnosis of dystonia as a functional psychiatric disorder--usually conversion reaction--has persisted. The present study describes personality traits as measured by the Minnesota Multiphasic Personality Inventory in 30 persons with dystonia and in a control group of 37 persons with cerebral palsy. The data, examined by diagnosis, level of disability, and sex, showed no differences for diagnostic groups or levels of disability. Males scored in the direction of greater psychopathology than did females. The male dystonics showed the highest elevations of MMPI scales of all the groups. Although only one person with dystonia musculorum deformans and none with cerebral palsy produced the profile usually associated with conversion reaction, 36% of all profiles showed two scales above a T score of 70. This finding suggested that young adults with a physically disabling disease may be at higher risk for developing maladaptive personality traits.
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PMID:MMPI characteristics associated with cerebral palsy and dystonia musculorum deformans. 48 13

Homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA), the respective metabolites of dopamine and serotonin, were measured in ventricular fluid obtained from 20 patients with torsion dystonia at the time of ventriculography prior to thalamic surgery. The patients could be divided into two distinct types of dystonia--childhood-onset and adult-onset--which were identifiable on clinical and biochemical grounds. In the 14 patients with childhood-onset dystonia, the first symptom appeared in one limb in early childhood and the disease usually progressed rapidly. In the six patients with adult-onset dystonia, the first symptom usually appeared in axial muscles after adolescence and the disease progressed slowly. Ventricular fluid HVA levels were significantly lower in the patients with adult-onset dystonia than in those with childhood-onset dystonia. The differences suggest diminished dopaminergic activity, possibly secondary to nigrostriatal dysfunction, in adult-onset dystonia.
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PMID:Diminished ventricular fluid dopamine metabolites in adult-onset dystonia. 56 84

The authors studied the records of 84 patients who had idiopathic torsion dystonia. Thirty-seven cases had originally been misdiagnosed as primarily psychiatric illness. Only 1 patient presented with dystonic movements that were clearly part of a more general psychiatric disorder. The authors believe her to be the first reported patient whose dystonia is undeniably of psychogenic origin.
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PMID:Dystonia: a disorder often misdiagnosed as a conversion reaction. 62 28

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

Dystonia occurs frequently following administration of neuroleptic or antiemetic drugs. This acute manifestation is not likely to be a simple consequence of reduced dopaminergic activity, because it was never reported to occur following the use of drugs which deplete dopamine stores, like reserpine and tetrabenazine. Based on the fact that dopamine-beta-hydroxylase levels are frequently elevated in patients with the dominant form of torsion dystonia it is suggested that dystonia results from impairment of a normal dopaminergic-noradrenergic balance, in which noradrenergic tone preponderates. A relative norepinephrine hyperactivity may be caused by dopaminergic blockade (as occurs in drug-induced dystonia) or from enhanced release of norepinephrine (in idiopathic torsion dystonia).
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PMID:The pathophysiology of dystonia. 69 Jun 31

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

Dopa-sensitive dystonia has been recognised for twenty years. It may occur in the first years of life. It first affects the lower limbs, then generalized becomes, as in torsion dystonia. Eight clinical cases are presented in five boys and three girls. The absence of the disorder in the parents, but its presence in siblings in three cases suggests that it might be recessively inherited. The symptoms are severe enough to cause major functional disability. In some cases, the intensity of the motor disorder varies during the days being, less pronounced in the morning or after a nap and more marked in the evening. Nonetheless, this feature is not constant and thus cannot be considered as an essential diagnostic criterion. Treatment with levodopa gives remarkable and durable results, but it must be continued indefinitely. Abnormal movements accompany an overdose but regress when the dosage is decreased. Unlike Parkinson's disease, it is not necessary to increase or fragment doses to avoid fluctuations in the efficacy of treatment during the day. On the contrary, after several years of the illness a decrease in daily dosage sometimes to a single dose is possible. Discontinuing treatment leads to reappearance of dystonia after two or three days. There are no established biological criteria to aid diagnosis. However, a decrease in urine levels of homovanillic acid was observed in two cases. Dopa-sensitive dystonia should be regarded as distinct from juvenile Parkinson's disease, firstly because of its symptomatology and secondly, and more importantly, because of its particular course, since fluctuations in therapeutic efficacy are never observed. It is the only known example of dopaminergic insufficiency that is chronically almost completely controlled by a modest exogenous supply of levodopa.
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PMID:[Dopa-sensitive dystonia]. 130 57

Dystonia is a term used to describe a specific set of abnormal movements that can occur as a symptom of a variety of neurologic disorders, but also as a disease entity in its own right. This review focuses on the primary dystonias and delineates the genetic contribution to these disorders. Included is a description of the well recognized forms of primary dystonias which manifest autosomal dominant inheritance, especially the "classic" type of early onset, generalized torsion dystonia, but also other clinically distinct forms such as myoclonic dystonia, paroxysmal dystonia, and DOPA-responsive dystonia. Also, a summary of the molecular genetic studies pertinent to these disorders and a discussion of the implications of recent genetic research for delineating the wide spectrum of this phenotypically and genetically heterogeneous group of diseases are forthcoming.
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PMID:The autosomal dominant dystonias. 134 64

The DYT1 gene responsible for early-onset, idiopathic torsion dystonia (ITD) in the Ashkenazi Jewish population, as well as in one large non-Jewish family, has been mapped to chromosome 9q32-34. Using (GT)n and RFLP markers in this region, we have identified obligate recombination events in some of these Jewish families, which further delineate the area containing the DYT1 gene to a 6-cM region bounded by loci AK1 and ASS. In 52 unrelated, affected Ashkenazi Jewish individuals, we have found highly significant linkage disequilibrium between a particular extended haplotype at the ABL-ASS loci and the DYT1 gene. The 4/A12 haplotype for ABL-ASS is present on 69% of the disease-bearing chromosomes among affected Jewish individuals and on only 1% of control Jewish chromosomes (chi 2 = 91.07, P much less than .001). The allelic association between this extended haplotype and DYT1 predicts that these three genes lie within 1-2 cM of each other; on the basis of obligate recombination events, the DYT1 gene is centromeric to ASS. Furthermore, this allelic association supports the idea that a single mutation event is responsible for most hereditary cases of dystonia in the Jewish population. Of the 53 definitely affected typed, 13 appear to be sporadic, with no family history of dystonia. However, the proportion of sporadic cases which potentially carry the A12 haplotype at ASS (8/13 [62%]) is similar to the proportion of familial cases with A12 (28/40 [70%]). This suggests that many sporadic cases are hereditary, that the disease gene frequency is greater than 1/15,000, and that the penetrance is lower than 30%, as previously estimated in this population. Most affected individuals were heterozygous for the ABL-ASS haplotype, a finding supporting autosomal dominant inheritance of the DYT1 gene. The ABL-ASS extended-haplotype status will provide predictive value for carrier status in Jewish individuals. This information can be used for molecular diagnosis, evaluation of subclinical expression of the disease, and elucidation of environmental factors which may modify clinical symptoms.
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PMID:Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. 134 97

Striatal 18F-Dopa uptake and glucose metabolism were studied by positron emission tomography with 6-L-[18F]fluorodopa and [18F]fluorodeoxyglucose, respectively, in 8 patients with idiopathic dystonia. Patients with abnormal findings on the brain CT and MRI were excluded from this study. The clinical diagnosis consisted of torsion dystonia in 3 patients, focal dystonia limited in the arm in 3 and cervical dystonia (spasmodic torticollis) in 2. The 18F-Dopa uptake, corrected by nonspecific retention in the cerebellum, at 120 min post-administration was evaluated, and increased 18F-Dopa uptake in the putamen and in the caudate head was observed in the patients with idiopathic dystonia compared to the normal controls. The striatal glucose metabolism in the patients with idiopathic dystonia showed no difference with the normal controls. These findings suggest that pathogenetic mechanism of idiopathic dystonia involves increased presynaptic activity of the dopaminergic system in the striatum.
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PMID:Increased striatal 18F-dopa uptake and normal glucose metabolism in idiopathic dystonia syndrome. 143 86


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