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 report six previously healthy children who several days after a prodromal illness had an acute encephalopathy that ran a biphasic course. It appears to constitute a recognizable syndrome with a good prognosis that can be differentiated from other encephalopathies of obscure origin as previously defined by Lyon et al. The active phase was dominated by coma or confusion and by abnormal movements, including disordered gesticulation and attacks of orofacial dyskinesia or limb dystonia associated with permanent rigidity and culminating in opisthotonic posturing. Repeated seizures were observed in only two patients. Permanent slow waves were recorded on the electroencephalogram in all patients, even during bursts of abnormal movements. Cerebrospinal fluid and results of serologic studies were normal throughout the course of the disease, and attempts at viral isolation and antiviral antibody detection yielded negative results. Brain imaging either showed no abnormalities or suggested a moderate degree of brain edema. The recovery phase, which extended for several weeks, was characterized by a rapid return of motor function and persistent behavioral and cognitive disturbances. Nonverbal reasoning recovered long before verbal expression returned to normal. Four patients eventually recovered fully, whereas two had mild sequelae.
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PMID:Coma associated with intense bursts of abnormal movements and long-lasting cognitive disturbances: an acute encephalopathy of obscure origin. 144 43

The present study investigates the occurrence of post-traumatic movement disorders in survivors of severe head injury. We studied a series of 398 consecutive patients who were admitted to the hospital with a Glasgow Coma Score of 8 or less after they sustained a head trauma. One hundred thirty-four out of 398 patients (34%) died after they were admitted to the hospital or in the further course. A recent follow-up was obtained in 221 of the 264 remaining patients (84%). Follow-up consisted of a three-level assessment, including questionnaires, telephone interviews, and personal examinations. Fifty out of 221 patients (22.6%) had developed movement disorders secondary to the head trauma, which were transient in 23 patients (10.4%) and persistent in 27 patients (12.2%). Forty-two patients (19%) had tremors, nine (4.1%) had dystonia, and seven (3.2%) had other movement disorders. Twelve patients (5.4%) had disabling low-frequency kinetic tremors (2.5 to 4 Hz) or dystonia, or both. Low-frequency kinetic tremors developed with a latency from 2 weeks to 6 months after trauma, and dystonia with a latency from 2 months to 2 years. When compared with patients without movement disorders, this subgroup was characterized by a different distribution profile of Glasgow Coma Scores with a higher proportion of lower scores on admission (p < 0.05). When we compared the initial CT findings, there were highly significant associations between generalized brain edema and the occurrence of any movement disorders, between generalized brain edema and the occurrence of persistent movement disorders, and between generalized brain edema and the occurrence of kinetic tremors and dystonia. We detected similar associations for focal cerebral lesions, but not for subdural and epidural hematomas. In conclusion, transient or persistent movement disorders are common sequelae in survivors of severe head injury. Disabling movement disorders such as kinetic tremors and dystonia, however, occur only in a small group of patients.
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PMID:Post-traumatic movement disorders in survivors of severe head injury. 896 Jul 32

Dystonia is a rare consequence of head trauma. We describe one case of post-traumatic spasmodic torticollis and review thirty-one cases reported in the literature. The time course among the head injury and the onset of dystonia ranged from two hours to nine years. Eleven cases had mild head injury and twenty had severe. On CT studies, the most frequent lesion was extradural, subdural and thalamic hemorrhagies; on MRI there were lesions in contralateral basal ganglia or thalamus. In our case, initial CT findings were bilateral hygroma and generalized brain edema. A follow-up CT sixt days after head injury showed cerebral atrophy and MRI scan (one year later) showed cerebral atrophy either. The pathophysiologic mechanisms related to the appearence of dystonia are poorly understood. However, there are evidences suggesting that some dysfunction of lenticulothalamic neuronal circuits plays an important role. The period of time between the head injury and the appearance of post-traumatic dystonia, seems to be related to aberrant central neurons.
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PMID:[Post-traumatic spasmodic torticollis]. 969 45

Maple syrup urine disease (MSUD) is an inborn error of metabolism resulting from a defect in the oxidation of the branched-chain amino acids leucine, isoleucine, and valine. Patients present in early infancy with brain edema; delay in diagnosis and treatment is common and associated with residual neurologic damage, which includes alternating muscular hypotonia and hypertonia, dystonia, and seizures. These signs can result in trauma, especially to the anterior maxilla, which is the most traumatized region. In patients with MSUD, a fixed prosthesis is recommended because a removable one can be dangerous because of the risk of aspiration. Rehabilitation, using dental implants, is especially challenging in these patients because of the strong muscular forces of the tongue and lips. An implant-supported fixed prosthesis might provide an effective functional, esthetic, and predictable solution for patients with late-treated MSUD. The present report describes a 10-year follow-up of the successful, posttraumatic use of a dental implant to replace an anterior maxillary tooth in a patient with MSUD.
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PMID:Posttraumatic dental implant placement in a patient with maple syrup urine disease. 1676 96

Children with acute encephalopathy (AEP) or acute encephalitis(AE) show variable findings in the clinical manifestations and on the neuroimaging. Patients with AE present variable symptoms: disturbance of consciousness, seizure, ataxia, dystonia, abnormal behavior, apnea, and others. This variability depends on the location of lesions including basal ganglia, brain stem, cerebellum, or cerebral gray/white matter. In AEP, MRI findings can be categorized into (1) severe brain edema, (2) acute necrotizing encephalopathy, (3) cortical necrosis that appears 4-5 days after the onset, and (4) others. Serum AST elevates in approximately 50% of AEP patients, and among them around 60% develops DIC. The high AST group includes Reye syndrome(RS), mimic RS and AEP with shock syndrome.
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PMID:[Clinical variability in viral infection related acute encephalitis or encephalopathy]. 2140 Aug 54

Perhaps no other organ in the body is affected as often and in as many ways as the brain is in patients with chronic kidney disease (CKD). Several factors contribute to the neurological disorders in CKD including accumulation of uremic toxins, metabolic and hemodynamic disorders, oxidative stress, inflammation, and impaired blood brain barrier among others. The neurological disorders in CKD involve both peripheral and central nervous system. The peripheral neurological symptoms of CKD are due to somatic and cranial peripheral neuropathies as well as a myopathy. The central neurological symptoms of CKD are due to the cortical predominantly cortical, or subcortical lesions. Cognitive decline, encephalopathy, cortical myoclonus, asterixis and epileptic seizures are distinct features of the cortical disorders of CKD. Diffuse white matter disease due to ischemia and hypoxia may be an important cause of subcortical encephalopathy. A special and more benign form of subcortical disorder caused by brain edema in CKD is termed posterior reversible encephalopathy. Subcortical pathology especially when it affects the basal ganglia causes a number of movement disorders including Parkinsonism, chorea and dystonia. A stimulus-sensitive reflex myoclonus is believed to originate from the medullary structures. Sleep disorder and restless leg syndrome are common in CKD and have both central and peripheral origin. This article provides an overview of the available data on the nature, prevalence, pathophysiology, consequences and treatment of neurological complications of CKD.
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PMID:The nature, consequences, and management of neurological disorders in chronic kidney disease. 2879 4