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

The clinical and electromyographic characteristics of tremor were studied in 45 patients presenting with various forms of idiopathic dystonia. Dystonic tremor was shown to be postural, localized, and irregular in amplitude and periodicity, absent during muscle relaxation, exacerbated by smooth muscle contraction, and associated frequently with myoclonus. Although it resembles essential tremor, dystonic tremor seems to be a distinct entity: it is more irregular with a broader range of frequencies; it is asymmetric and remains localized; myoclonus is sometimes associated. This type of tremor is most often seen in the presence of dystonia, but may be observed without evident dystonic symptoms.
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PMID:Tremor and idiopathic dystonia. 192 28

We examined 56 members of a large Norwegian family with hereditary essential myoclonus, affecting mainly the neck and upper parts of the body, and inherited in an autosomal-dominant pattern. We observed definite myoclonus in nine individuals, probable myoclonus in one, and possible myoclonus in one. There were two other living members who had a history compatible with myoclonus but who had developed a permanent remission, so we did not observe the movements, and two who had involuntary movements only with stress. Writing usually increased the myoclonus in the neck and trunk, but did not produce myoclonus in the arm used for writing. Having a conversation with an individual who was aware of being watched would also usually increase the myoclonus. Alcohol ameliorated the myoclonus in many, but not all, affected members. Activities such as walking and concentrating during reading would usually reduce the myoclonus. Three living members with definite myoclonus also had features of mild focal dystonia, either spasmodic torticollis or blepharospasm, indicating that focal dystonia may exist as part of the clinical spectrum in hereditary essential myoclonus. In addition to examining the members of the family, we videotaped them and obtained blood samples for molecular genetic analysis.
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PMID:Hereditary essential myoclonus in a large Norwegian family. 192 29

The clinical features and course of 14 patients with progressive supranuclear palsy (PSP) were analysed. PSP formed 2.3 percent of the parkinsonian population. Blepharospasm, hypersomnia, athetosis, action dystonia, action myoclonus and family history of dementia were the unusual features. Half of the patients had dementia at presentation. Drug therapy was uniformly disappointing. The mean duration from onset to death in 4 patients who died was 4.5 years. The histopathological features in a patient with the disease for one year and who died of acute myocardial infarction showed moderately severe changes characteristic of the disease.
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PMID:Progressive supranuclear palsy. Report of 14 cases with special reference to unusual features. 193 53

Actual phenomena of various types of involuntary movements listed below were demonstrated by moving pictures, which were followed by comments on symptomatology, in particular the fundamental characteristics of an individual involuntary movement. These characteristics are the essence of each involuntary movement, and it is necessary to recognize both its phenomenon itself and its accumulated knowledge in order to realize and interpret the involuntary movement. The following involuntary movements are treated: (1) typical tremor-at-rest in paralysis agitans, (2) atypical parkinsonian tremor, (3) essential tremor, (4) chorea, (5) ballism, (6) athetosis, (7) choreoathetosis, (8) dystonia, (9) spontaneous myoclonus at rest, (10) intention or action myoclonus, (11) intention tremor and (12) hyperkinesis.
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PMID:[Symptomatology of the involuntary movement]. 201 97

Extrapyramidal dysfunction is poorly characterized in Rett's syndrome, a neurodegenerative disorder in girls. We studied the motor and behavioral findings in 32 Rett's syndrome patients, 21 months to 30 years old. In addition to the typical stereotyped movements and scoliosis, other motor disturbances included bruxism, sialorrhea, ocular deviations, parkinsonian findings, dystonia, myoclonus, and athetosis. The types of movement disorders seemed to be age-related, with the hyperkinetic disorders occurring in the younger patients and the bradykinetic disorders occurring more frequently in the older patients.
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PMID:Extrapyramidal involvement in Rett's syndrome. 223 45

Clinical and biochemical studies are reported on a 32-year-old man with GM1 gangliosidosis who presented with a slowly progressive dystonia that began when he was aged 7 years and eventually became almost totally incapacitating at the age of 35. There was only mild intellectual deterioration, but myoclonus, seizures and macular cherry-red spots were never observed. Proton-density and T2-weighted MRI scans showed symmetrical hyperintense lesions of both putamina. No increase of GM1 ganglioside was found in plasma or cerebrospinal fluid, and the metabolism of GM1 ganglioside in cultured skin fibroblasts from the patient was also almost normal, although the residual activity of GM1 ganglioside beta-galactosidase activity was only 10% of normal. These findings suggest that impaired GM1 ganglioside metabolism is not present systemically as it is in the infantile and juvenile types of the disorder, but is mainly confined to the central nervous system in chronic GM1 gangliosidosis.
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PMID:A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies. 212 25

Movement disorders are subdivided based on a variety of criteria. One useful and popular approach to movement disorders, based on clinical phenomenology, categorizes these disorders into two groups, those displaying a poverty of movement (akinesia) and those displaying excessive movement (hyperkinesia). This article discusses diagnosis and treatment of the latter. By necessity, certain hyperkinesias such as hyperexplexia, akathisia, and restless leg syndrome are omitted or only briefly discussed. The major hyperkinesias, dystonia, tremor, tics, chorea (including tardive dyskinesia and ballism), and myoclonus are reviewed and a guide to practical management emphasizing symptomatic treatment is presented.
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PMID:Treatment of hyperkinetic movement disorders. 218 Dec 68

Alcohol-responsive myoclonic dystonia is reported in 26 individuals in a six-generation family, thus indicating autosomal dominant inheritance. Twenty affected family members aged between 3 and 56 years were examined on one occasion. Myoclonus in arms, shoulder, and neck distribution was seen in 17, with occasional generalized jerks in 14. Leg dystonia/hemidystonia was seen in two infant cases, writer's cramp in seven, torticollis/retrocollis in two, and finger tremor in three. The onset of myoclonus was regularly reported from 2 to 3 years of age, the onset of leg dystonia/hemidystonia from 6 to 18 months of age, writer's cramp from early school age, and neck dystonia from late teenage. The effect of alcohol had been noted in 10 individuals, and seven of them abused alcohol. Once established, the neurological signs did not progress significantly. Leg dystonia resolved in two juvenile members. Two adult members had recovered from myoclonus: one elderly man and one posthemorrhagic spastic hemiplegic man. Extensive family investigation is necessary to clarify the clinical variation of this autosomal dominant disorder of involuntary movements.
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PMID:Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. 225 50

Thirty-one subjects affected by different movement disorders underwent polygraphic and videotape monitoring during nocturnal sleep, to assess movement patterns during the night. It was possible to distinguish two categories of disorders according to their pattern of movements. In the largest group (Meige's syndrome, blepharospasm, amyotrophic choreoacanthocytosis, Tourette syndrome, tonic foot, hemiballism) abnormal movements were still present during sleep, but decreased in frequency and amplitude in all stages. The second group presented three syndromes (nocturnal paroxysmal dystonia, nocturnal myoclonus, restless legs syndrome), in which light non-rapid-eye-movement sleep induced a strong activation of abnormal movements, whereas rapid-eye-movement sleep suppressed them.
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PMID:The effect of nocturnal physiological sleep on various movement disorders. 229 64

A patient with alcohol-sensitive spontaneous, action- and stimulus-sensitive generalized reflex myoclonus is reported. Gait was abnormal but could not be clearly classified as dystonic. No other neurological abnormality was present. The possible relationship between alcohol-sensitive myoclonic dystonia and this case is discussed. Reflex myoclonus may serve as an additional clinical marker in the study of families with alcohol-sensitive myoclonus, dystonia, or both.
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PMID:Generalized reflex myoclonus in a patient with alcohol-sensitive spontaneous myoclonus and an abnormal gait. 229 65


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