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)

Forty-four patients underwent fifty carotid endarterectomies in the first eighteen months of a new solo practice of cardiovascular and thoracic surgery in Montgomery. Thirty-six of the patients (82%) were symptomatic. Important operative details including continuous EEG monitoring, "selective" shunting, "open" endarterectomy and complete heparinization were employed throughout the study. There were no deaths and no strokes. Two patients (4%) had transient cranial nerve palsy and one patient (2%) had a transient ischemic attack consisting of dysarthria. One patient (2%) had a wound hematoma requiring reoperation. These results, in light of recent medical trials and randomized medical and surgical studies, encourage the continued place of carotid endarterectomy in the treatment of significant carotid disease in both symptomatic and asymptomatic patients.
Ala Med 1991 Nov
PMID:Contemporary results of carotid endarterectomy. 162 6

A 41-year-old woman presented with a 6-month history of gradually progressive postural instability and dysarthria associated with cerebellar and extrapyramidal signs. No Kayser-Fleischer (K-F) rings were observed on biomicroscopic examination of each cornea. The only evidence of hepatic dysfunction was a modest elevation of alanine-aminotransferase. The diagnosis of Wilson disease (WD) was based on low serum ceruloplasmin, abnormal serum copper and urinary copper excretion, and DNA marker segregation analysis. WD should be considered in the presence of characteristic neurologic and laboratory features, regardless of age at onset, evidence of hepatic dysfunction, or absence of K-F rings.
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PMID:Neurologic presentation of Wilson disease without Kayser-Fleischer rings. 878 87

Classical Menkes disease is a neurodegenerative disorder caused by mutations in the copper-transporting ATPase ATP7A gene which, when untreated, is usually fatal in early childhood. A mild form of Menkes disease was originally reported in 1981 and clinical progress of the patient at 10 years described subsequently. The causative mutation is c.4085C>T in exon 21, causing an alanine to valine substitution in the highly conserved TM7 domain at the C-terminal end of the Menkes protein. Here we report his status at 34 years of age. Intellectual impairment is mild. Ataxia has nearly resolved but motor retardation, dysarthria and an extreme slow speech rate remain. In contrast to patients with the occipital horn syndrome, there have been no connective tissue complications of his mild Menkes disease. He has been under long-term copper therapy for more than 30 years and he continues to enjoy a good quality of life.
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PMID:The mild form of menkes disease: a 34 year progress report on the original case. 2343 May 51