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)

Catatonia is a neuropsychiatric syndrome that may present a difficult diagnostic dilemma. Catatonic disorder due to general medical conditions must be considered in every patient with catatonic signs. Four patients with this disorder are presented. In these patients, general medical conditions associated with catatonic disorder included dystonia, HIV encephalopathy, progressive multifocal leukoencephalopathy, encephalitis, and renal failure. Three of these patients had multifactorial presentations of medical conditions or prior psychiatric disorders. A critical literature review concerning catatonia and associated nonpsychiatric medical conditions only infrequently supported causal relationships between organic factors and the development of catatonia. The majority of patients have multifactorial etiologies.
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PMID:Catatonic disorder due to general medical conditions. 804 33

We report an unusual case of probable progressive multifocal leukoencephalopathy (PML), who initially presented with a right-sided movement disorder, including upper limb dystonia, tremor, and dyspraxia, reminiscent of corticobasal degeneration. In the further course, the patient developed disorientation, confusion, and bradyphrenia. The appearance of white matter MRI lesions as well as a positive PCR test result for JC-virus in the cerebrospinal fluid finally led to the correct diagnosis.
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PMID:A "cortico-basal degeneration"-like syndrome as first sign of progressive multifocal leukoencephalopathy. 1123 80

Dystonia is a rare complication of acquired immune deficiency syndrome (AIDS). We report four such cases related to three different causes. Cases 1 and 2 both developed dystonia secondary to biopsy-proven progressive multifocal leukoencephalopathy. One had left arm dystonia, whereas the other had bilateral upper limb dystonia. One patient had associated akinesia and rigidity. Imaging demonstrated frontal and/or parietal white matter lesions but no basal ganglia abnormalities. Case 3 developed hemidystonia and cervical dystonia from biopsy-proven toxoplasmosis with a lesion in the thalamus. Case 4 suffered from AIDS dementia complex and developed cervical dystonia while taking risperidone therapy. We also review previously reported cases of dystonia in AIDS patients with the same causes and discuss the issue of increased vulnerability of the basal ganglia to HIV infection which, in turn, leads to increased sensitivity to neuroleptics. When dystonia is seen in AIDS patients, its pattern may be a clue to the ultimate cause.
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PMID:Dystonia in AIDS: report of four cases. 1467 86

Progressive multifocal leukoencephalopathy (PML) is caused by replication of JC virus in oligodendrocytes of immunocompromised patients. Common manifestations are focal motor and sensory deficits, gait abnormalities, speech and language disturbances, cognitive disorders, headache, and visual impairment. Although the occurrence of movement disorders is rare in PML, bradykinesia, rigidity, dystonia, myoclonic jerks and myoclonic ataxia have been described. Head tremor associated with PML has not been previously reported. We report two cases of PML in whom head tremor was present.
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PMID:Head tremor and progressive multifocal leukoencephalopathy in AIDS patients: report of two cases. 1583 82

Progressive multifocal leukoencephalopathy (PML) has been described in adult immunocompromised patients and has a progressive downhill course. Though dementia and motor disturbances have been described, intractable dystonia is a very unusual manifestation. In children, PML is very rare and often misdiagnosed as other central nervous system (CNS) encephalopathy. No definitive treatment is available.
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PMID:Progressive multifocal leukoencephalopathy (PML) presenting as intractable dystonia in an HIV-infected child. 1592 49

Myoclonic dystonia is considered a form of dystonia. We present the unusual case of a 36-year-old woman with HIV infection, who developed left facial myoclonic dystonia, triggered by eating in the setting of probable progressive multifocal leukoencephalopathy involving the contralateral basal ganglia.
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PMID:Eating-induced facial myoclonic dystonia probably due to a putaminal lesion. 1729 Apr 49

Belimumab is a monoclonal antibody against soluble B-lymphocyte stimulator, an essential growth factor for B-cell maturation and activation, which was approved by the US FDA in 2011 for patients with active autoantibody-positive systemic lupus erythematosus (SLE) who have failed standard treatment. Here we present the case of a 40-year-old woman with SLE diagnosed with progressive multifocal leukoencephalopathy (PML) on belimumab. After a total of 10 infusions of belimumab, from August 2012 through April 2013, in April 2013 she developed progressive neurologic decline with episodic dystonia and autonomic symptoms. Her imaging showed multifocal, confluent regions of T2 hyperintensity in the white matter bilaterally, and CSF JCV PCR returned positive. Based on the patient's clinically mild SLE and the timing of symptom onset, belimumab likely played a key role in the development of PML. Trials of belimumab for other autoimmune diseases are ongoing; as applications for this novel drug broaden, careful monitoring for this potentially fatal adverse effect is warranted.
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PMID:A case of progressive multifocal leukoencephalopathy in a lupus patient treated with belimumab. 2510 35