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)

We performed a neurochemical study of the brain of two unrelated patients, living in different continents, with neuroacanthocytosis. The levels of monoamines and their metabolites, gamma-aminobutyric acid and substance P, were measured in several brain areas and the monoamine metabolites in cerebrospinal fluid. The binding of 3H-spiperone to striatal membranes and to lymphocytes was also measured. Both patients had a progressive neurological disorder with onset in the third decade of life and characterized by a complex movement disorder, epilepsy, muscular wasting, and changes in behavior. The movement disorder initially manifested with oromandibular dystonia and limb chorea, but at the time of death was characterized by a severe dystonic syndrome. The chemical changes were similar in the two patients. The most important neurochemical findings were a depletion of dopamine and its metabolites in most brain areas, most notably in the striatum, and elevation of norepinephrine levels in the putamen and globus pallidus. Substance P was markedly reduced in the striatum and substantia nigra. Our findings may provide clues to the neurochemical mechanisms underlying dystonia.
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PMID:Neurochemical findings in neuroacanthocytosis. 290 27

Dystonia musculorum deformans is a rare involuntary movement disorder of unknown etiology. We treated three brothers in one family on our rehabilitation unit, resulting in definite improvement in their ability to walk and control the dystonic movements, and in their speech and swallowing. All three benefited from orthoses to prevent equinovarus and maintain ankle stability. Intense concentration, such as needlepoint, seemed to reduce the amount of extra motion. Performing another activity during dystonic movements, such as pointing to a communication board, also seemed to give some relief. A special seating system using a collapsible wheelchair, a low center of gravity, and antitip wheels reduced one brother's frequency of falling. Swallowing finely cut foods was not a problem with any of our patients, although one had to be instructed in a special technique. An electronic communication board was very helpful. Our success in these cases should encourage others working in rehabilitation to consider such patients and to apply the principles of rehabilitation, particularly the total team approach, in their care.
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PMID:Dystonia musculorum deformans: three cases treated on a rehabilitation unit. 296 19

Glutaric acidemia, which is due to inherited deficiency of glutaryl-CoA dehydrogenase, is characterized clinically by progressive dystonia and dyskinesia in childhood, and pathologically by degeneration of the caudate and putamen. Results using newer imaging techniques (computer tomography and magnetic resonance image scanning) suggest that neurological involvement in this condition begins before birth, and that gliosis of the basal ganglia is a relatively late event. Glutaric acidemia type II is usually due to inherited deficiency of electron transfer flavoprotein (ETF) or ETF:ubiquinone oxidoreductase, but some patients with typical disease may have another, to date undefined, abnormality. There may also be a clinical phenotype of glutaric acidemia type II which, like glutaryl-CoA dehydrogenase deficiency, is characterized by a movement disorder and by degeneration of the basal ganglia.
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PMID:Recent progress in understanding glutaric acidemias. 312 45

Clinical presentation of primary CNS lymphoma with an extrapyramidal movement disorder has not been recorded. A 66-year-old woman presented with chorea involving her left arm and subsequently developed right-sided segmental dystonia with prominent hemifacial dystonic spasms, milder torticollis and dystonia of the right arm. Investigations revealed primary CNS lymphoma with extensive involvement of the right-sided basal ganglia as well as lesions confined to the head of the left caudate nucleus and the corpus callosum. Chorea of her left arm subsided with progressing disease while remission of right-sided segmental dystonia was observed following radiotherapy of the brain. This patient's findings and a review of the literature suggest a possible relation between cranio-cervical dystonia and pathology affecting the head of the caudate nucleus.
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PMID:Primary CNS lymphoma presenting as a choreic movement disorder followed by segmental dystonia. 321 Nov 77

Movement disorders are usually of central origin, but sometimes involuntary movements occur after peripheral trauma. Twenty eight patients, 13 women and 15 men, mean age 37 years (range 15-78), were studied with dystonia or tremor in whom the onset of abnormal movements was related, in time and in distribution, to injury of a body part. Among 23 patients with latency of less than one year after injury, focal dystonia of the involved body part was found in 18, nine of whom had associated reflex sympathetic dystrophy (RSD). One of five patients with peripherally induced tremor had RSD. Abnormal electromyography or nerve conduction velocities were found in the affected limb in four patients, but other electrophysiologic techniques provided evidence for disturbed central function. In 15 patients (65%) possible predisposing factors may have contributed to the pathogenesis of the trauma induced abnormal involuntary movements.
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PMID:Dystonia and tremor induced by peripheral trauma: predisposing factors. 322 Dec 19

A 49-year-old man developed a syndrome of crural-axial dystonia combined with segmental myoclonus 3 months after the onset of meralgia paraesthetica of the left leg. The association of this remarkable movement disorder with the pain syndrome is discussed.
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PMID:Crural and axial myoclonic dystonia following meralgia paraesthetica. 322 4

Three patients with homocystinuria due to cystathionine beta-synthase deficiency who developed progressive generalised dystonia are described. Although cerebrovascular thrombosis is usually thought to be responsible for neurological dysfunction in homocystinuric patients, neuropathological studies in one case and clinical and radiological evidence in the other two suggested that dystonia was not caused by brain infarction. Movement disorder associated with homocystinuria may result from the neurochemical changes in the basal ganglia related to the inherited defect in sulphur amino acid metabolism.
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PMID:Dystonia in homocystinuria. 340 94

From among 1377 patients with movement disorders, four patients had an unusual movement disorder characterised by paroxysmal bursts of involuntary, regular, repetitive, rhythmic, bilateral, coordinated, simultaneous, stereotypic myoclonus and vocalisations, often associated with tonic symptoms, interference with voluntary functioning, presence of hyperactivity, attention and learning disabilities, and resistance to treatment with haloperidol and other drugs. This symptom complex may represent a new disease entity, referred to here as paroxysmal myoclonic dystonia with vocalisations or a variant or combination of other movement disorders such as Gilles de la Tourette, myoclonic, or dystonic syndromes.
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PMID:Paroxysmal myoclonic dystonia with vocalisations: new entity or variant of preexisting syndromes? 345 1

Two hundred consecutive patients affected by essential tremor (ET), referred to the Movement Disorders Center of the University of Bologna between January 1977 and December 1981, were studied to identify the different clinical features of this disorder, and its associated neurological signs. In this series, 169 patients suffered from typical essential tremor (TET); in the other 31 cases uncommon clinical features were detected: 25 presented postural, action and rest tremor (continuous tremor: CT); 5 had orthostatic tremor (OT) and 1 was affected by writing tremor (WT). Buccolinguofacial dyskinesias (BLFD) were associated with ET in 19 cases; 2 presented dystonia, and in 6 mild extrapyramidal signs were detected. Uncommon types of tremor: ET plus BLFD and ET associated with extrapyramidal signs had an higher incidence in older people. No patient developed Parkinson's disease (PD) during the follow-up period (2-5 years).
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PMID:Different clinical features of essential tremor: a 200-patient study. 357 75

We studied seven patients with AIDS or AIDS-related complex (ARC) and movement disorders. Three had hemichorea-ballismus, two had segmental myoclonus, one had postural tremor with dystonia, and one had paroxysmal dystonia. Besides the hyperkinesias, two patients had parkinsonism, and one had cerebral Whipple's disease. In two, the movement disorder preceded other evidence of AIDS; in three others, the diagnosis of AIDS was not considered until there was a movement disorder. The movement disorders were attributed to toxoplasmosis in four patients (one confirmed at autopsy), viral encephalitis, vacuolar myelopathy, and CNS Whipple's disease.
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PMID:Movement disorders and AIDS. 379 36


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