Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chronic progressive hepatocerebral degeneration with spastic paraparesis, dementia, dysarthria, ataxia, tremor, and neuropsychiatric symptoms follows long-standing portal-systemic shunting, is associated with structural changes in the central nervous system, and does not respond to conventional therapy for hepatic encephalopathy. A case of advanced chronic liver disease with severe, progressive hepatocerebral degeneration after 23 yr of portal-systemic shunting is reported in whom there was significant objective improvement in intellectual function and in the chronic neurological signs 3 mo after orthotopic liver transplantation and further improvement 12 mo after transplantation.
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PMID:Improvement in chronic hepatocerebral degeneration following liver transplantation. 231 62

Magnetic resonance imaging studies on 3 cases with Wilson's disease were performed, using high field magnetic resonance system of 1.5 tesla. All patients had neurological findings of tremor, rigidity, dystonia or dysarthria at onset. Two patients had been treated with D-penicillamine for 14 years and 7 years respectively, and one patient was not treated then. T2-weighted images revealed abnormalities of signal intensity in lenticular nucleus, thalamus, pulvinar, superior colliculus, lateral portion of substantia nigra, midbrain and pontine tegmentum, and cerebral and cerebellar white-matter. Especially noted were following three hitherto undescribed abnormalities; high signal intensity of globus pallidus which normally shows very low signal intensity, restoration of signal intensity of lateral portion of substantia nigra, and marked low signal intensity of pulvinar and superior colliculus.
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PMID:[High field magnetic resonance imaging in Wilson's disease]. 235 Sep 24

One hundred and twenty-nine cases of Wilson's disease (WD) were assessed at index admission and two follow-ups (F1 and F2) on a range of clinical and biochemical variables. The commonest psychiatric symptoms throughout were incongruous behavior, irritability, depression, and cognitive impairment. Among psychiatric cases, most improvements occurred in the interval index-F1, with subsequent leveling off. Significant improvement occurred only with incongruous behavior and cognitive impairment. Psychiatric cases whose psychiatric symptoms persisted to F2 differed from those who responded, in particular showing more dysarthria, incongruous behavior, and hepatic symptoms. Neuropsychiatric cases displayed more dysarthria and incongruous behavior than patients with neurological symptoms alone. Further evidence for associations between dysarthria and abnormal behavior emerged from this study.
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PMID:Wilson's disease: a longitudinal study of psychiatric symptoms. 237 28

A prospective neuropsychiatric study of 31 consecutive subjects with Wilson's disease is reported. Exploratory factor analysis yielded four factors: neurological, cognitive, hepatic/depressive and psychiatric. Significant associations were found between a 'psychopathic' personality factor and neurological and dysarthria scores. The d' and beta coefficients of a signal-detection memory task dissociated: the former correlated only with Mini-Mental State and Benton visuospatial task; and the latter with depressive symptoms. Using discriminant function analysis, there was efficient classification of 'psychopathic' personality by dysarthria, and of individual depressive symptoms by disturbance of gait. Biochemical markers of hepatic dysfunction were significantly associated with certain depressive symptoms. No evidence emerged to support the putative association with schizophrenia-like psychosis.
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PMID:Wilson's disease: a prospective study of psychopathology in 31 cases. 259 16

Experience with liver transplantation for patients with Wilson's disease who have major neurological impairment is limited, and this report describes the results obtained in two such patients. The first was a 30-year-old man with a 14-month history of hepatic and neurological impairment. In spite of treatment with d-penicillamine, he developed increasing dysarthria, dysphagia, akinesia and rigidity of all four limbs, and required continuous nursing care. Following transplantation, liver function was almost normal from four weeks onwards, but recovery of neurological function was much slower and was not seen until two to three months after surgery. By four months he was sufficiently mobile to be discharged, and when he returned for assessment at eight months, no abnormal neurological signs were detectable. The second patient was a 27-year-old woman with worsening liver dysfunction for eight years; one year previously she had developed dysarthria, akinesia, a fine tremor and moderate rigidity of all limbs as well as marked psychological impairment. There was no improvement on treatment with d-penicillamine or trientine, but as liver function returned to normal two months after liver grafting, her neurological and psychological function began to improve so that by three months she could be discharged.
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PMID:Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation. 332 13

This case study presents a ten-year speech treatment history of a young adult Wilson's disease patient in whom a severe dysarthria persisted despite drug and dietry controls. The patient was initially classified as "100% disabled" and was compensated because of his severe communication disorder. As he progressed, he ultimately secured full-time employment (involving verbal communication) which affords him economic independence. One aspect of therapy that played a critical role in the transfer of intelligible speech to situations outside the clinical setting was the use of a protocol for systematic client self-evaluation and for systematic elicitation and use of listener feedback. Methods that may prove helpful in the study of intelligibility maintenance in other dysarthric clients are presented. This report suggests that in some instances long-term therapy for dysarthria is both beneficial and economically justifiable.
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PMID:Ten-year study of a Wilson's disease dysarthric. 359 21

Thirty-one patients with Wilson's disease were evaluated with detailed neurologic and medical examinations. Mean age (+/- SD) at onset was 21 +/- 5 years and at examination was 28 +/- 6 years. Of the 90% of patients who were first treated with penicillamine, 31% deteriorated initially despite therapy, and half never recovered to pretherapy baseline. At the time of our evaluations, the most common neurologic findings were dysarthria (97%), dystonia (65%), dysdiadochokinesia (58%), rigidity (52%), gait and postural abnormalities (42%), and tremor (32%). Chorea and dementia were rare. Twenty-two patients underwent magnetic resonance imaging. All but one of the 19 symptomatic patients had abnormal scans. The three asymptomatic patients had normal scans. Most lesions were seen in the caudate, putamen, subcortical white matter, midbrain, and pons. Generalized brain atrophy was also common. Lesions were less common in the thalamus, cerebellar vermis, midbrain tegmentum, globus pallidus, red nucleus, and dentate nucleus. Dystonia and bradykinesia correlated with putamen lesions, and dysarthria correlated with both putamen and caudate lesions.
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PMID:Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging. 382 91

Long-term treatment with triethylene tetramine dihydrochloride, (trientine, TETA) was evaluated in 19 patients with Wilson's disease (WD). Two were given the drug as first choice and 17 after treatment with penicillamine. The change was made because of side-effects, lack of improvement or worsening of neurological symptoms. All penicillamine-induced side-effects reverted. Thirteen patients still receive trientine, and the mean total observation time on this treatment is 8.5 years/patient. Seven of the 13 are free from symptoms related to WD, five have mild to moderate neurological symptoms, mainly dysarthria. One patient with neurological symptoms who received trientine from the start of treatment deteriorated rapidly and is now severely dystonic. The symptoms initially worsened and later improved in one patient. All other patients improved during trientine treatment. Three patients died: two from a multifocal cancer including the liver and one non-complier from a ruptured spleen. Two patients underwent liver transplantation for progressive liver failure: one non-complier and one with liver cirrhosis whose liver function deteriorated despite treatment; both are now free from symptoms. Unexpectedly, two patients developed a serious colitis, one with duodenitis as well, that improved after withdrawal of the drug. No other unfavourable effects of trientine were recorded.
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PMID:Long-term treatment of Wilson's disease with triethylene tetramine dihydrochloride (trientine). 758 74

In a 21-year-old woman with a smaller and sloppy handwriting, drooling especially when stooping, sporadic choking, clumsiness, and frequent stumbling, Wilson's disease was diagnosed. The medical history disclosed a short period of haemolytic anaemia with transient hepatic failure, and irregular menstruation periods with infertility. On examination there were no signs of liver or spleen enlargement. She was slow, had an expressionless face and mild dysarthria, and slight impairment of the coordination of the limbs. Magnetic resonance imaging of the brain showed bilateral hyperintensive lesions of the basal ganglia on T2W images. Zinc therapy induced a good biochemical response and there was also some clinical improvement. Linkage analysis within the family identified one other asymptomatic homozygotically affected sister. A diagnostic delay occurs frequently due to relative unfamiliarity with this rare disease and due to its variable clinical expression.
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PMID:[Wilson's disease; diagnosis with the aid of magnetic resonance tomography]. 772 83

Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism. The corresponding gene locus has been localized on the long arm of chromosome 13. Three different clinical variants of the disease can be distinguished: hepato-cerebral, abdominal/hepatic, and central nervous type. The heterogeneity of symptoms can cause problems in differential diagnosis, especially when another concordant disorder can also explain the pathogenesis of symptoms. The case report of a young man who suffered from brainstem contusion demonstrates the possibilities of misinterpretation because presenting symptoms could be attributed either to traumatic brain injury followed by adjustment disorder or Wilson's disease. Clinical signs included leftsided hemiparesis, bilateral gaze direction nystagmus, marked dysarthria with consecutive pervasive mutism, choreo-athetoid movements, spasmodic torticollis and diplopia dependent on gaze direction. Slit lamp examination showed Kayser-Fleischer's corneal ring. EEG- and computer assisted tomography investigations revealed non-specific findings. The patient was treated with D-Penicillamine. Alternative treatment with oral zinc preparations is discussed.
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PMID:Case report: concordant traumatic brainstem contusion delayed diagnosis in a young man with Wilson's disease. 778 83


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