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)

Organic mercury compounds have greatest affinity to the central nervous system (cerebellar white matter, basal ganglia, occipital and frontal cortex). Anatomical changes observed in the brain are of degenerative type. Similar changes are found also in the myocardium, liver and kidneys. The authors observed for 2 years a family of three persons who contracted poisoning with organic mercury compounds after easting the meat of pigs and hens fed through negligence with wheat destined for sowing, containing methyl-mercurocyanoguanidine. The level of total mercury determined by the method of cold atomic absorption was in these patients four months after poisoning 650,500 and 175 ng/ml of blood (normal value from 1.56 to 18.72 ng/ml). During the observation it has been established that the severity of poisoning was related to the level of mercury found in the organism. Pharmacological treatment (Cuprenil, Thioctacid, vitamin B complex) and rehabilitation brough slight improvement after 2 years. Two patients with total blood mercury level 650 and 500 ng/ml were completely disabled due to encephalopathy with high grade ataxia, dysarthria and concentric narrowing of the field of vision. In the third patients with less severe poisoning (175 ng/ml) pathological manifestations disappeared completely after short treatment.
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PMID:[Encephalopathy after poisoning with organic mercury compounds]. 48 88

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

Wilsons disease is an autosomal recessive genetic disorder in which copper accumulates in tissues, especially in the liver and the brain. The genetic defect affects the P type ATPase gene (ATP7B). More than 500 mutations causing Wilsons disease have been described. The most common mutation in Central Europe concerns H1069Q. The symptoms of Wilsons disease include hepatic or neurological conditions. The hepatic condition is manifested as steatosis, acute or chronic hepatitis or cirrhosis. The neurological conditions are most often manifested after the age of 20 as motor disorders (tremor, speech and writing disorders), which may result in severe extrapyramidal syndrome with rigidity, dysarthria and muscle contractions. The dia-gnosis is based on clinical and laboratory assessments (neurological signs, liver lesions, low ceruloplasmin, increased free serum copper, high Cu volumes in urine, KayserFleischer ring). The dia-gnosis is confirmed by a high Cu level in liver tissue or genetic proof. Untreated Wilsons disease causes death of the patient. If treated properly the survival rate approximates to the survival rate of the common population. The treatment concerns either removal of copper from the body using chelating agents excreted into the urine (Penicillamine, Trientine) or limitation of copper absorption from the intestine and reducing the toxicity of copper (zinc, ammonium tetrathiomolybdate). In the Czech Republic, Penicillamine or zinc is used. A liver transplant is indicated in patients with fulminant hepatic failure or decompensated liver cirrhosis. In the family all siblings of the affected individual need to be screened in order to treat any asymptomatic subjects.
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PMID:[Wilsons disease]. 2390 62