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)

This paper reports five movement disorders cases to serve as a basis for discussion of the problems encountered in the clinical management of these cases, and the pathophysiological mechanisms involved in these disorders as presented. Case 1 is a description of the subjective experience of a patient with acute orofacial dystonia from promethazine. Case 2 is the use of clonazepam is post-head injury tics. Case 3 is the complication from discontinuation of haloperidol and benztropine mesylate treatment. Case 4 is myoclonus in subacute sclerosing Panencephalitis, and Case 5 is rebound tremor from withdrawal of a beta-adrenergic blocker.
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PMID:Case vignettes of movement disorders. 662 44

The patient we describe had cerebellar ataxia, slow eye movements, myoclonus, facial dystonia and signs of spinal cord and peripheral nerve involvement. The patient's mother, brother and sister died from the same disease. Neuropathological examination revealed lesions of olivo-ponto-cerebellar atrophy (OPCA) associated with spinal cord degenerative changes characteristic of Menzel's hereditary ataxia. Although myoclonus was similar to Hunt's dyssynergia cerebellaris myonica, pathological findings did not show significant involvement of the dentate nucleus or superior cerebellar peduncle and physiopathological hypotheses for myoclonus are discussed. Slow eye movement is emphasized in the propositus and we suggest that it could be specific of one type of OPCA. Its pathological significance is discussed, but a primitive and unique involvement of the paramedian pontine reticular formation is unlikely.
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PMID:Menzel's hereditary ataxia with slow eye movements and myoclonus. A clinico-pathological study. 663 53

We studied 14 patients who had a combination of idiopathic torsion dystonia and myoclonic jerks. In many cases, the same muscles were involved in both the myoclonus and the dystonia. This made observation of the crucial dystonic postures difficult and led to misdiagnosis of other dyskinesias. The jerks usually were brief (50 to 200 msec) and occurred irregularly, often showing cocontraction in antagonist muscles. Frequently, they were superimposed upon sustained dystonic contractions in the same or distant muscles. We found no time-locked EEG event before the jerks. The myoclonus probably arises from a subcortical focus, and the visible jerks probably are part of the spectrum of involuntary movements that accompany torsion dystonia.
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PMID:Myoclonic dystonia. 668 67

Clinical and pathological studies are reported from investigation of a 27-year-old man with GM1 gangliosidosis who experienced a slowly progressive dystonia that began about age 4, primarily affected the face and limbs, and eventually became almost totally incapacitating. There was only mild intellectual deterioration; myoclonus, seizures, and macular cherry-red spots were never observed. Postmortem examination revealed intraneuronal storage, localized predominantly to the basal ganglia, in which neurons contained round, multilamellated inclusions. Golgi studies revealed meganeurites arising from medium spiny neurons. Other areas of the central nervous system appeared relatively unaffected, although small basilar dilatations were observed in scattered cortical pyramidal neurons and Purkinje cell dendrites showed focal swellings. Vacuolated cells of the reticuloendothelial system were observed, including Kupffer cells and histiocytes in the spleen, marrow, and intestinal tract. Biochemical analysis revealed a generalized beta-galactosidase deficiency with specific accumulation of GM1 ganglioside in the basal ganglia.
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PMID:Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features. 679 74

Of 842 consecutive patients with movement disorders seen over a 71 month period, 28 (3.3%) were diagnosed as having a documented or clinically established psychogenic movement disorder. Tremor was most common (50%) followed by dystonia, myoclonus, and parkinsonism. Clinical descriptions of various types are reviewed. Clinical characteristics common in these patients included distractability (86%), abrupt onset (54%), and selective disabilities (39%). Distractability seems to be most important in tremor and least important in dystonia. Other diagnostic clues included entrainment of tremor to the frequency of repetitive movements of another limb, fatigue of tremor, stimulus sensitivity, and previous history of psychogenic illness. On examination, 71% had other psychogenic features. Over 60% had a clear history of a precipitating event and secondary gain and 50% had a psychiatric diagnosis (usually depression). Twenty five per cent of patients presented with combined psychogenic movement disorder and organic movement disorder; 35% resolved and this subgroup had a shorter duration of disease than those who are unresolved. Psychogenic movement disorder represents an uncommon diagnosis among patients with movement disorders. The ability to make a diagnosis rests on the presence of a multitude of clinical clues and therapeutic action should be taken as early as possible.
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PMID:Psychogenic movement disorders: frequency, clinical profile, and characteristics. 756 21

Movement disorders (MD), other than tremor, associated with multiple sclerosis (MS) occur infrequently. We report 14 new cases of whom nine had dystonia, three parkinsonism, and two had myoclonus. We also reviewed 135 such cases from the literature. From an analysis of the individual MDs and the site of the lesions described, we conclude that paroxysmal dystonias (tonic spasms), ballism/chorea, and palatal myoclonus can be caused by demyelinating lesions. Parkinsonism, dystonia, and other types of myoclonus, however, often appear to be coincidental.
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PMID:Movement disorders in multiple sclerosis. 938 76

We report two families with a disorder, probably autosomal recessive, characterized by tremor of juvenile onset, dystonia, and myoclonus with preserved cognitive, cerebellar, and peripheral nervous system functions. During 4 years' follow-up, mild spasticity appeared. Magnetic resonance imaging (MRI) revealed mild diffuse changes in the white matter. Central conduction times for visual, motor, and sensory systems were all prolonged. Extensive metabolic work-up failed to reveal lysosomal, peroxisomal, mitochondrial, or other metabolic abnormalities.
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PMID:Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging. 756 37

Dentatorubropallidoluysian atrophy is a neurodegenerative disorder with characteristic pathology, chiefly described in reports from Japan, and is associated with an unstable CAG trinucleotide repeat in a gene on chromosome 12. We describe four European families, three British and one Maltese, with this mutation. All exhibited autosomal dominant inheritance, and there was evidence for anticipation associated with an increase of the expansion with paternal transmission in two families. Affected chromosomes from patients with dentatorubropallidoluysian atrophy had CAG expansions of 58 to 74 repeats, compared to 7 to 26 in control chromosomes, and the size of repeat was significantly inversely correlated with age of onset. The clinical features were diverse, even within individual families, and comprised a combination of a movement disorder (chorea, myoclonus, dystonia, or parkinsonism), cerebellar ataxia, epilepsy, psychosis, and dementia. A clinical diagnosis of Huntington's disease had been made in affected individuals from all families. Neuropathological examination of 2 patients showed no specific abnormality in one and degenerative changes predominantly affecting the spinal cord in the other. Investigation of 55 patients who might represent sporadic examples of dentatorubropallidoluysian atrophy did not detect any expanded alleles. Dentatorubropallidoluysian atrophy is likely to be more common than previously recognized in non-Japanese populations, and should be considered in any patient with a dominantly inherited neurodegenerative disorder with the above-mentioned clinical features.
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PMID:A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. 771 81

The clinical findings in six patients from three families with 4-hydroxybutyric aciduria are described. The onset of disease was in early infancy in all cases. All infants presented with severe global delay and severe hypotonia, and all patients had seizure disorder. Eye findings included optic atrophy in two patients, and retinitis pigmentosa in one. Three patients had choreoathetosis, two had myoclonus and one had severe dystonia. The urine 4-hydroxybutyric acid was 300-1000 times that of normal, and other organic acids related to its further metabolism or to its inhibitory effect on beta-oxidation were also increased. The administration of vigabatrine rapidly reduced the excretion of 4-hydroxybutyric acid promptly, and in the long-term its excretion could be kept at 80-200 times that of normal. However, the clinical course of the disease improved in only two, remained the same in two, and worsened in the remaining two patients.
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PMID:4-Hydroxybutyric aciduria. 772 83

Over the last 5 years the Pediatric Neurology service at King Faisal Specialist Hospital and Research Centre (KFSH&RC) has seen 131 infants and children with movement disorders. Forty-nine (37%) had identifiable biochemical defects, 25 of which were organic acidemias. Nineteen of 29 patients with dystonia had organic acidemias, primarily glutaric aciduria type 1 (7 patients), bilateral striatal necrosis (4 patients), and 3-methyl glutaconic aciduria (3 patients). All patients with parkinsonian rigidity (n = 11) had organic acidemias; again, the greatest number accounted for by glutaric aciduria type 1 (7 patients), who had both parkinsonian rigidity combined with dystonia. Myoclonus occurred in only 1 of 25 and chorea in 7 of 25 patients with organic acidemias. At the least all patients had bilateral lesions of putamen and head of caudate, seen best in MRI brain scans as increased T2 signal intensities with normal volume, and later with volume loss.
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PMID:Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations. 772 87


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