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)

A retrospective study of 13 patients (4 males/9 females) with acquired hemidystonia in childhood is reported. The mean age of onset of hemidystonia was 6.4 years (range 1-13.4 years); the mean duration of dystonia at the time of last follow-up was 11.4 years (range 3.6-23 years). Hemidystonia was caused by ischemic infarction in 9 patients and was attributed to perinatal trauma in 1; in 4 of the 9 patients with stroke and in the remaining 3 patients laboratory investigations were suggestive of primary antiphospholipid syndrome. Eleven of the 13 patients had delayed onset of dystonia: between 1 month and 8.9 years (mean 3.4 years). Ten patients had neuroradiological evidence of contralateral basal ganglia damage. A history of hemiparesis and evidence of striatal damage on CT or MRI were important risk factors for the development of dystonia. Response to medical treatment (trihexyphenidyl dose as high as 40 mg daily) in 5 patients was disappointing; 4 of the 5 patients who underwent functional stereotaxic operations were improved, but dystonia was still present at the end of the follow-up. Our study provides additional evidence that lesions of the striatum may induce dystonia, supporting the theory of striatopallido-thalamic disconnection. Furthermore, our results indicate that the occurrence of delayed dystonia must be considered in the diagnostic approach to childhood-onset dystonia.
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PMID:Acquired hemidystonia in childhood: a clinical and neuroradiological study of thirteen patients. 888 43

Background: Although clinically evident and MRI confirmed, basal ganglia involvement, is usual in primary antiphospholipid syndrome, extrapyramidal disorders such as parkinsonism and dystonia are very rare. We were unable to find any report in the literature on dystonia-parkinsonism in patients with primary antiphospholipid syndrome. Here we report an adult patient with dystonia-parkinsonism and primary antiphospholipid syndrome.Case report: A 60 year old, right-handed man came to our attention due to writer's cramp, bradykinesia and stiffness of his right hand. Neurological examination revealed constant, marked dystonic posturing, rigidity and bradykinesia of the right hand. Hyper-gammaglobulinemia was demonstrated on electrophoresis-serum IgG was increased. Anticardiolipin antibodies were examined by counterimmunoelectrophoresis (ELISA): IgG was negative, while IgM was positive. There was also slight thrombocytopenia. Magnetic resonance imaging brain scan axial T2W/UTSE revealed several hyperintense lesions in the basal ganglia and in the periventricular white matter and diffuse hyperintensity of the subcortical white matter bilaterally in the parietal regions. There was asymmetric parenchimal atrophy, more prominent in the left hemisphere. No clinical improvement was achieved by levodopa, dopamine agonists or anticholinergics. According to the criteria for primary antiphospholipid syndrome our patient had thrombocytopenia and high levels of IgG and IgM anticardiolipin antibodies so he was presumed to have a primary antiphospholipid syndrome.Conclusion: Various movement disorders may appear secondary to stroke, antiphospholipid syndrome, Behcet's disease or brain tumor. These cases may help in the understanding of pathophysiology of movement disorders. Dystonia and parkinsonism as well as other movement disorders may be associated with primary antiphospholipid syndrome.
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PMID:Antiphospholipid syndrome and dystonia-parkinsonism. A case report. 1124 96

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent thrombotic events and/or pregnancy morbidity that may be isolated (Primary APS) or associated with other diseases, mainly of autoimmune origin (Secondary APS). A variety of neurological symptoms may occur in association with the disease, including movement disorders. We report on a 79 year old woman with an unremarkable past medical history who progressively developed psychomotor agitation and insomnia through a period of four months, followed by an acute onset complex hyperkinetic syndrome with chorea, focal left foot dystonia, oral dyskinesias and severe speech impairment. Brain MRI showed multiple subcortical lesions without basal ganglia involvement, and a large cortical lesion in the left posterior temporal lobe that appeared to be ischemic. These findings along with a strongly elevated titer of anticardiolipin (aCL) and anti-beta(2) glycoprotein-I antibodies and positive Lupus Anticoagulant (LAC) suggested a diagnosis of Antiphospholipid Syndrome, confirmed 14 weeks later as a Primary syndrome. The autoimmune mechanisms possibly responsible for the patient's clinical picture are discussed. This case underlines the importance of taking into account APS as a cause of unusual movement disorders even in elderly patients without evidence of previous thrombotic events.
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PMID:Complex movement disorders in primary antiphospholipid syndrome: a case report. 1934 15

Movement disorders have been known to be associated with a variety of autoimmune diseases, including Sydenham's chorea, pediatric autoimmune neuropsychiatric disorders associated with streptococcus, systemic lupus erythematosus, antiphospholipid syndrome, gluten sensitivity, paraneoplastic and autoimmune encephalopathies. Tremors, dystonia, chorea, ballism, myoclonus, parkinsonism, and ataxia may be the initial and even the only presentation of these autoimmune diseases. Although antibodies directed against various cellular components of the central nervous system have been implicated, the pathogenic mechanisms of these autoimmune movement disorders have not yet been fully elucidated. Clinical recognition of these autoimmune movement disorders is critically important as many improve with immunotherapy or dietary modifications, particularly when diagnosed early. We discuss here the clinical features, pathogenic mechanisms, and treatments of movement disorders associated with autoimmune diseases, based on our own experience and on a systematic review of the literature.
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PMID:Movement disorders in autoimmune diseases. 2255 4

Hyperkinesias are heterogeneous conditions that share the feature of production of involuntary, abnormal, excessive movements. Tremor, dystonia, and chorea are amongst the most common of these phenomena. In this focused review there is a discussion of difficult issues in hyperkinesias. The first one is the differential diagnosis between essential tremor (ET) and Parkinson's disease (PD). They are readily distinguishable in the majority of patients but in a few subjects ET coexist with parkinsonian features whose underlying mechanism remains to be determined. The second topic of the review is dystonic tremor. Although increasingly diagnosed and reported as accounting for the majority of scans without evidence of dopaminergic deficits, its diagnostic criteria are ill-defined and differentiation from PD and ET can be challenging. In the last section, there is a discussion of the differential diagnosis of Sydenham's chorea (SC), the most common cause of chorea in children. In a few patients, vascular disease, systemic lupus erythematosus, and primary antiphospholipid antibody syndrome can mimic SC.
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PMID:Difficult diagnoses in hyperkinetic disorders - a focused review. 2311 89

Neurological manifestations or disorders associated with the central nervous system are among the most common and important clinical characteristics of antiphospholipid syndrome (APS). Although in the most recently updated (2006) APS classification criteria, the neurological manifestations encompass only transient ischemic attack and stroke, diverse 'non-criteria' neurological disorders or manifestations (i.e., headache, migraine, bipolar disorder, transverse myelitis, dementia, chorea, epileptic seizures, multiple sclerosis, psychosis, cognitive impairment, Tourette's syndrome, parkinsonism, dystonia, transient global amnesia, obsessive compulsive disorder and leukoencephalopathy) have been observed in APS patients. To date, the underlying mechanisms responsible for these abnormal neurological manifestations in APS remain unclear. In vivo experiments and human observational studies indicate the involvement of thrombotic events and/or high titers of antiphospholipid antibodies in the neuro-pathogenic cascade of APS. Although different types of neurologic manifestations in APS patients have successfully been treated with therapies involving anti-thrombotic regimens (i.e., anticoagulants and/or platelet antiaggregants), antineuralgic drugs (i.e., antidepressants, antipsychotics and antiepileptics) and immunosuppressive drugs alone or in combination, evidence-based guidelines for the management of the neurologic manifestations of APS remain unavailable. Therefore, further experimental, clinical and retrospective studies with larger patient cohorts are warranted to elucidate the pathogenic linkage between APS and the central nervous system in addition to randomized controlled trials to facilitate the discovery of appropriate medications for the 'non-criteria' neurologic manifestations of APS.
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PMID:'Non-Criteria' Neurologic Manifestations of Antiphospholipid Syndrome: A Hidden Kingdom to be Discovered. 2765 14

Movement disorders (MDs) are common in patients with autoimmune disorders affecting the central and peripheral nervous system. They may be observed in autoimmune disorders triggered by an infectious agent, such as streptococcus in Sydenham's chorea, or in basal ganglia encephalitis with antibodies against the dopamine-D2 receptors. In these patients chorea or dystonia are usually the most prominent hyperkinetic MDs. MDs are also observed in patients with diffuse or limbic encephalitis with antibodies directed against neuronal cell-surface antigens. Anti-NMDA receptor encephalitis is one of the most common and may present with a variety of MDs, including: chorea, stereotypies, dystonia and myorhythmia. The recognition of other abnormal motor phenomena such as "faciobrachial dystonic seizures" and neuromyotonia, observed in patients with LGI1 and Caspr-2 antibodies, is important because they may herald the onset of overt limbic encephalitis. Autoimmunity directed against the intracellular enzyme glutamic acid decarboxylase usually presents with MDs, most commonly stiff-person syndrome or cerebellar ataxia. Chorea may be observed in rheumatologic disorders such as systemic lupus erythematosus or antiphospholipid syndrome. Disorders with uncertain autoimmune mechanisms such as Hashimoto's encephalitis and idiopathic opsoclonus-myoclonus syndrome commonly present with tremor, myoclonus and ataxia. A rapid diagnosis of an autoimmune disorder, which typically presents with subacute onset, is critical as early therapeutic intervention improves long-term prognosis and may be life-saving. Treatment usually involves some form of immunotherapy and symptomatic therapy of the abnormal movements with dopamine depleters, dopamine receptor antagonists, or GABAergic drugs. Detection and removal of an underlying tumor is essential for optimal outcome.
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PMID:Autoimmune and paraneoplastic movement disorders: An update. 2940 2