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)

Two men, aged 25 and 33 years, had progressive hemidystonia and an arteriovenous malformation (AVM) in the contralateral cerebral hemisphere. One patient with an AVM in the posterior basal ganglia of the right hemisphere had an older brother with severe generalized dystonia. The second patient had an AVM in the left cortical and subcortical parietal area with no obvious lesion in the basal ganglia. Unlike generalized dystonia, a focal lesion is commonly found in patients with unilateral dystonia. The association of AVM-induced hemidystonia and family history of dystonia suggests that genetic predisposition may be important in some patients with hemidystonia.
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PMID:Arteriovenous malformation presenting as hemidystonia. 378 74

Twenty-eight patients with focal (arm or leg) or hemidystonia due to tumour, arteriovenous malformation, infarction, haemorrhage or hemiatrophy are described. All had typical dystonic movements and/or postures, identical to those seen in idiopathic (primary) torsion dystonia. The site(s) of the lesion responsible, as defined by CT (computerized tomography) scan or pathological examination, was in the contralateral caudate nucleus, lentiform nucleus (particularly the putamen) or thalamus, or in a combination of these structures. Review of 13 other patients in the literature with hemidystonia and lesions defined by CT scan, and of 7 other patients with pathologically discrete lesions associated with hemidystonia, also indicated involvement of these structures. Dystonia may be due to abnormal input from thalamus to premotor cortex, due to lesions either of the thalamus itself, or of the striatum projecting by way of the globus pallidus to the thalamus.
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PMID:The anatomical basis of symptomatic hemidystonia. 400 32

Argentina is facing an increase in cocaine use by adolescents and young adults from every socioeconomic background. It is calculated that up to 10% of all cocaine passing through this country is locally sold and consumed. Nevertheless, local information describing common cocaine-related neurological events is scarce. From August 1988 to March 1993, 13 patients were evaluated with neurological disease associated with cocaine abuse. Among these 13 patients (Table 1), the mean age was 29; 70% were men. Patients most commonly used the nasal route (snorting). Concomitant abuse of other intoxicants, especially alcohol, was frequent (85%). The major neurological complications included one or more seizures (n = 7), ischemic stroke (n = 2) (Fig. 1-2), hemorrhagic stroke (n = 2) associated with arteriovenous malformation (Fig. 3a-b), memory disturbances (n = 1) and paroxysmal dystonia (n = 1). Psychiatric complaints were present in all patients. Mortality was not observed. There was no correlation between the appearance of complications and the amount of cocaine used, or prior experience with this drug. Only one of the 7 patients with seizures had a previous history of seizures. All had generalized tonic-clonic seizures, and one had concomitant absence episodes. Cocaine modulates central neurotransmitters and has direct cerebrovascular effects. The neurological complications appear to be related to cocaine hyperadrenergic effects, striatal dopaminergic receptor hypersensitivity and perhaps vasculitis. Structural changes in the brain of long-term cocaine abusers could explain the persistence of neurologic symptoms after drug withdrawl.
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PMID:[Neurologic complications by cocaine abuse]. 799 Jun 84

A 12-year-old girl with a 3-year history of writer's cramp in association with a basal ganglia arteriovenous malformation (AVM) is reported. The lesion was localized to the left globus pallidus and putamen, extending to the adjacent white matter of the frontal lobe. Our experience confirms a common anatomical basis of symptomatic focal dystonia: disruption of the pathways within and adjacent to these structures. Appropriate imaging should be carried out in patients with unexplained movement disorders.
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PMID:Basal ganglia arteriovenous malformation presenting as "writer's cramp". 969 42

Orthostatic tremor (OT) is not an uncommon symptom in various neurodegenerative diseases. However, the nature and pathophysiology of OT involve a complex network of tremors and dopaminergic pathways. We assessed patients who complained of prominent leg tremors described as "shaky leg." We analyzed their characteristics and evaluated them with neuroimaging and electrophysiological tools. A total of 23 patients who experienced an uncomfortable symptom of leg tremor were retrospectively enrolled from April 2014 to October 2019. Previous medical history, brain MRI, and surface electromyography (EMG) data were analyzed. The [18F]-FP-CIT brain positron emission tomography (PET) and the Unified Parkinson's Disease Rating Scale (UPDRS) were assessed for patients who showed parkinsonism. The causes of OT varied: parkinsonism (n = 5), idiopathic causes (n = 4), secondary causes (n = 3, trauma, brain lesion, arteriovenous malformation), drug reactions (n = 3, valproate, perphenazine, haloperidol), other neurological disorders (n = 5, essential tremor, dystonia, restless leg syndrome, REM sleep behavior disorder, dementia), alcohol withdrawal (n = 1), functional movement disorder (n = 1), and an unknown cause (n = 1). The frequency range varied (2.6-15 Hz) and according to the new consensus statement on the classification of OT, 4 patients had primary OT, 2 had "primary OT plus," 12 had slow OT, and 5 had orthostatic myoclonus. The prognosis associated with the use of medication was generally poor; however, clonazepam and levodopa were the most effective drugs. In conclusion, we found that different types of OT and orthostatic myoclonus were diagnosed by electrophysiological evaluation and neuroimaging tools even if they showed the same symptoms as "shaky leg." In addition, it is possible to roughly estimate the response to medication according to the type of OT and the cause. To clarify the pathophysiology of OT, a large number of longitudinal cohort studies and detailed neuroimaging and electrophysiological evaluations are needed.
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PMID:What Shall We Do for the Patients with Shaky Leg Syndrome? A Review of 23 Patients. 3291 73