Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three adults, 2 of whom had polymyositis and 1 with dermatomyositis, developed dysphagia during the course of their illness. Results of esophageal manometry supplemented with esophageal radiography indicated the presence of cricopharyngeal achalasia. Because of the severity of this disorder, which is associated with aspiration of esophageal contents into the airways, surgery to divide the cricopharyngeal musculature was performed in 2 patients, giving complete relief of their symptoms. Prednisone dosage was not increased to treat this condition since it arose not from weakness but from obstruction. A biopsy specimen taken from 1 patient demonstrated inflammatory changes in the obstructing muscle. A review of these 3 patients and 3 previously reported cases indicates that cricopharyngeal obstruction can be a dominant cause of dysphagia in patients with myositis. The recognition of this entity is important in the management of patients with myositis because: it has serious and potentially life-threatening implications; and in certain cases, it can be effectively treated with surgery.
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PMID:Cricopharyngeal obstruction in inflammatory myopathy (polymyositis/dermatomyositis). Report of three cases and review of the literature. 400 73

Both achalasia and Hirchsprung's disease arise from defects of innervation of the oesophagus and distal large bowel respectively. Their consequences are confined to disorders of motility in the relevant part of the gastrointestinal tract. Many neurogenic and primary muscle disorders are associated with abnormalities of gut motility. Stroke, even when unilateral, is commonly associated with dysphagia. Transcranial magnetoelectric stimulation has established that the pharyngeal phase of swallowing tends to receive its innervation principally from one hemisphere. In many neurological disorders, dysphagia is only one part of the clinical picture but in some--for example, the Chiari malformation--dysphagia may be the sole or major feature. Disturbances of small and large bowel motility, when seen in neurogenic disorders, are associated with autonomic neuropathy and are particularly common in diabetes mellitus. Primary muscle disorders can lead to dysphagia (for example, with polymyositis or oculopharyngeal dystrophy) or defects of large bowel motility (for example, with Duchenne's muscular dystrophy). Primary gut disorders particularly associated with neurological disease include pernicious anaemia, nicotinamide and thiamine deficiencies, selective vitamin E deficiency, and coeliac disease. Inflammatory bowel disease is associated with thromboembolic complications which may include the CNS, inflammatory muscle disease, and abnormalities on MRI of the brain of uncertain relevance. Whipple's disease is a rare condition which sometimes is largely or entirely confined to the CNS. In such cases, a particular neurological presentation can indicate the diagnosis.
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PMID:Neurology and the gastrointestinal system. 1040 May 14

Myasthenia gravis (MG) and polymyositis (PM) are organ-specific autoimmune diseases. Occasional reports describe patients with clinical and pathologic features of both. Achalasia is idiopathic in nature, but autoimmune and inflammatory mechanisms have been proposed for this disorder as well. We describe a patient with dysphagia who was diagnosed at different points in time with all these three rare conditions. Despite at least putatively having immune mechanisms in common, an association between the three has not been previously described.
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PMID:Dysphagia with multiple autoimmune disease. 1094 18

The purpose of our study was to determine the frequency, radiographic features, and clinical importance of transient failure of opening of the lower oesophageal sphincter (LOS) on upright double-contrast views of the oesophagus. A computerized search of radiology records identified 16 patients who had transient failure of opening of the LOS on upright views from biphasic oesophagrams or upper gastrointestinal tract examinations using high-density barium but normal opening of the LOS on prone views using low-density barium. The radiographic findings were reviewed and correlated with the clinical and manometric findings. In all cases, barium studies revealed tapered, beaklike narrowing of the distal oesophagus on upright double-contrast views, with a normal-appearing distal oesophagus, normal opening of the LOS, and intact peristalsis on prone single-contrast views. Only seven patients (44%) had dysphagia. Five of these patients had clinical follow-up, and the dysphagia improved or resolved without specific treatment for LOS dysfunction in four. The remaining patient had persistent dysphagia, but this individual had polymyositis as the likely cause for his dysphagia. Manometry revealed incomplete relaxation of the LOS in two patients and normal relaxation in one. Our experience suggests that failure of opening of the LOS may be observed as a transient finding of little clinical importance on upright double-contrast views of the oesophagus using high-density barium, with normal opening of the LOS on prone single-contrast views using low-density barium. It is important to be aware of this finding, so that it is not mistaken for achalasia or other abnormalities of the distal oesophagus.
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PMID:Transient failure of opening of the lower oesophageal sphincter on upright oesophagrams: radiographic and clinical findings. 1584 33