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

Dystonia may be classified by age of onset (childhood, adolescence, adult onset), body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized) and etiology (idiopathic and symptomatic). We studied 76 patients with idiopathic dystonia among 122 cases of dystonic syndrome (62.3% of the total). There were 48 female and 28 male patients. Adult-onset focal dystonia was the most frequent feature (37 patients). The onset of generalized dystonia was more frequently seen under the age of 20, whereas focal and segmental dystonia usually started over this age. Postural tremor of the hands was observed in 19.7% of the patients. Spasmodic torticollis was the most prevalent form of dystonia overall. Except for writer's cramp, which occurred more frequently in males, and generalized dystonia, which was equally divided between sexes, all other forms were more frequent in females. Our data suggest that differences in racial origin, social and economical status and environmental factors do not account for a different manifestation in dystonia pattern.
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PMID:Idiopathic dystonia. Clinical profile of 76 Brazilian patients. 130 50

The basal ganglia play important roles in the pathophysiology of various types of involuntary movement disorders, such as chorea, ballism, athetosis, dystonia, tremor and tics. These involuntary movements when occur in the childhood show the specific ages of onset and the courses. For example postural dystonia occurs in childhood but action dystonia tend to occur in later ages. Postural tremor occurs after the second decades but resting tremor does not occur in childhood. Furthermore drug induced dystonia but not levodopa induced dyskinesia occurs in childhood. The age dependent clinical features observed in these involuntary movements are thought to be due to the specific developmental processes of the pathway in the basal ganglia and its efferent projections, which are involved in the pathophysiology in the each disorder. For example, the dopamine activity is known to be increased in the striatum before ten years of age which decreases, rapidly during the first decade and further decreases in the next decade with the moderate degree till adult level. The direct pathway, which is predominant in the ventral area in the basal ganglia, matures earlier than the indirect pathway, which is predominant in the dorsal area. In this paper the pathophysiologies of the hereditary progressive dystonia with marked diurnal fluctuation, juvenile parkinsonism, idiopathic torsion dystonia, chorea, ballismus and tics, all of which occur in the childhood, are discussed from the view point of the age dependent specificities of the involved pathways in the basal ganglia and their projections during development.
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PMID:[The clinical characteristics of involuntary movements in childhood]. 914 24

Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation) is an autosomal dominant, childhood onset, postural dystonia and the first hereditary basal ganglia disorder whose causative enzyme and gene defect were clarified. The initial symptom is unilateral pes equinovarus with marked diurnal fluctuation. Progression becomes slower after mid-teens and stationary after thirties. Postural tremor may occur after 10 years of age, especially after thirties. Parkinsonian resting tremor action and torsion dystonia. and disturbed locomotion do not occur. L-Dopa shows marked and sustained effect without side effects. F-Dopa PET and [11C] raclopride PET of over 20-year-old cases are normal. Deficiency of GTP cyclohydrolase I (GCH-I) was suggested from low CSF biopterin and neopterin. Mutation of GCH-I gene and decreased GCH-I were clarified as etiology. Twenty-five mutations discordant among families have been found. Autopsy of a gene proven case revealed decreased striatal tyrosine hydroxylase (TH) and dopamine (DA) in ventral striatum where direct pathway is predominant. Decreased GCH-I causes decreased tetrahydrobiopterin (BH4), TH and DA in nigrostriatal (NS) terminal. The lowest affinity of BH4 to TH causes selective involvement of DA. Postural dystonia is caused by decreased TH and DA affecting D1-direct pathway. Thalamic ventrolateral and pedunculo-pontine nuclei are spared. Diurnal fluctuation of symptoms is due to diurnal fluctuation of TH and DA at NS-DA terminal. Decreased DA to below 20% of normal, shown by polysomnographical studies, and its physiological age related decremental changes in NS-DA terminal underlies characteristic clinical course. High D2 receptor before early thirties masks D1 related hypertonus and manifest progression before 20 years of age. Other pteridine abnormalities also cause dopa responsive postural dystonia with diurnal fluctuation. A case of juvenile parkinsonism without dystonia showed decreased TH in dorsolateral putamen where indirect pathway is predominant. These suggest that decreased TH due to decreased BH4 involves D1-direct pathway causing dystonia, and decreased TH itself involves D2-indirect pathway causing parkinsonism.
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PMID:[Segawa disease]. 957 70