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)

Twelve relatives of a 15-year-old girl with idiopathic intestinal pseudoobstruction were studied with esophageal manometry or cine-esophagography to determine whether the disease was genetically transmitted. Four maternal relatives, including the patient's mother, 13-year-old brother, one aunt, and one of that aunt's children had mild dysphagia and esophageal motor dysfunction. In addition, the patient's mother and 13-year-old brother had a flaccid bladder and bilateral ureteral reflux, respectively. The brother had abnormal bladder smooth muscle by light microscopy. We conclude that idiopathic intestinal pseudoobstruction in this family is secondary to a generalized disease of smooth muscle which is transmitted as a dominant trait of variable expressivity, manifested in some family members as a mild disorder of esophageal smooth muscle dysfunction, at times accompanied by bladder dysfunction. We suggest that this form of idiopathic intestinal pseudoobstruction be called "hereditary hollow visceral myopathy." Esophageal manometry may prove useful as a tool for studying the inheritance of this disorder.
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PMID:Studies of idiopathic intestinal pseudoobstruction. II. Hereditary hollow visceral myopathy: family studies. 87 35

Cricopharyngeal dysphagia, a disorder of uncertain pathogenesis, is most frequently found in patients with associated gastroesophageal reflux. Seven patients who had dominant cricopharyngeal dysphagia were evaluated. Manometry showed characteristic motor incoordination. Biochemical profiles and endoscopy were normal. Electronmicroscopic examination of the cricopharyngeal muscle biopsy specimens obtained during myotomy showed significant ultrastructural abnormalities. These included numerous and aberrant mitochondria, increased glycogen, lipid inclusions, and phagolysozomes. A striking finding was the presence of numerous nemaline rods in five of seven biopsy specimens examined. The pathologic changes in this muscle in cryopharyngeal dysphagia have not been reported previously. Structural changes are thought to be a secondary response to reflux injury. Nemaline rods form part of the structural abnormality of muscle in patients who have cricopharyngeal dysphasia with no evidence of underlying generalized disease or myopathy.
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PMID:Nemaline rods in cricopharyngeal dysphagia. 740 97

Dysphagia and/or chest pain are the symptoms that characterize the motor abnormalities of the esophagus. These symptoms are not specific for motor disorders and can be seen with mucosal lesions. Symptom varies in severity and can be severe enough to put in risk the patient life. Motor dysfunction of the esophagus can be idiopathic, when it is not related to another systemic disease, or secondary, when it is associated to a generalized disease. Diagnosis and characterization of the motor disorders of the esophagus are best performed by manometry. In the present work, we expose some of the relevant clinical aspects and the manometric criteria currently accepted to classify motility disorders. Some treatment aspects are also reviewed.
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PMID:[Motor disorders of the smooth muscle of the esophagus]. 799 74