Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of congenital suprabulbar paresis is reported. The associated severe dysphagia which presented soon after birth was shown by radiographic and cineradiographic studies to be due to cricopharyngeal achalasia. During four years of follow-up a clear tendency to spontaneous improvement was seen. It is therefore suggested that the condition may have a favorable outcome without resorting to surgical intervention.
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PMID:Cricopharyngeal achalasia associated with congenital suprabulbar paresis. 97 77

Worster-Drought syndrome is a congenital, pseudobulbar paresis. There is no identified molecular etiology despite familial cases reported. The authors report a boy who was diagnosed with Worster-Drought syndrome due to longstanding drooling, dysphagia, and impaired tongue movement. Magnetic resonance imaging of the brain was unrevealing. At 14 years old, he remains aphonic with normal facial and extraocular movements. Nonsense mutations in the LINS gene, p.Glu366X and p.Lys393X, were found. Results from neuropsychological testing at 14 years old were consistent with a diagnosis of intellectual disability and revealed nonverbal reasoning skills at a 5-year-old level with relative sparing of his receptive vocabulary and visual attention. Compared to prior testing at 9 years old, his receptive language improved from a 6-year-old to an 8.5-year-old level. The authors report LINS mutations associated with Worster-Drought syndrome. This highlights that despite severe and persistent aphonia, receptive language improvements can be observed within the context of intellectual disability.
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PMID:Worster-Drought Syndrome Associated With LINS Mutations. 3009 Aug 41