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)

Allgrove syndrome (isolated glucocorticoid deficiency, achalasia and alacrima) was found in eight members of an inbred French Canadian/North American Indian pedigree. The high degree of consanguinity supports an autosomal recessive mode of inheritance for this disorder. Six patients presented with hypoglycaemia and other evidence of cortisol deficiency between 2.5 and 8 years of age; however, two others became cortisol deficient after initial testing showed normal cortisol responses to ACTH, evidence that the glucocorticoid insufficiency of this syndrome may not be congenital, but may develop as late as the third decade. No evidence of mineralocorticoid deficiency has been found during 65 patient-years of follow-up. Alacrima was the earliest and most consistent clinical sign of Allgrove syndrome. Other manifestations of peripheral or autonomic neuropathy were found in four patients. The patients showed similar facial features, and three had significant velo-pharyngeal incompetence. All showed oesophageal dysmotility even in the absence of symptomatic dysphagia. In-vitro studies of lymphocyte ACTH binding showed no differences from normal controls. If such lymphocyte binding, as has been suggested, reflects adrenal ACTH receptor activity, these data would suggest that the glucocorticoid deficiency of Allgrove syndrome is not the result of a defect in that receptor. However, the observation that ACTH does not elicit increased adenylate cyclase activity even in normal lymphocytes casts considerable doubt on the physiological significance of ACTH binding to lymphocytes. It seems likely, therefore, that true ACTH receptors are not expressed on peripheral lymphocytes, and any conclusions regarding a possible receptor defect in Allgrove syndrome must await studies of receptor expression on adrenal cell membranes.
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PMID:Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. 185 Jun 71

Esophageal function was prospectively studied in 50 consecutive insulin-requiring diabetes mellitus patients. The patients were stratified in three groups: A) 18 without peripheral neuropathy (PN); B) 20 with PN but no autonomic neuropathy; C) 12 with PN and autonomic neuropathy. Twelve patients (four B, eight C) had gastrointestinal symptoms including six with dysphagia. Radionuclide esophageal emptying was abnormal in 55, 70, and 83% of patients in groups A, B, and C, respectively. Eleven of the 12 (92%) symptomatic and 23 of the 38 (60%) asymptomatic diabetes mellitus patients had abnormal emptying. Five of six patients with dysphagia had abnormal emptying. Esophageal manometry was also performed in 15 patients. Twelve patients had abnormal manometry. These included nutcracker esophagus in two, achalasia in one, and increased percentage of multipeaked and simultaneous contractions in nine. There were no significant correlations between radionuclide esophageal emptying, manometric changes and symptoms. Gastrointestinal symptoms were more common in the presence of autonomic neuropathy. Delayed esophageal emptying was more profound in the presence of PN, but abnormal esophageal emptying was present in patients with neuropathy as commonly as patients without. Furthermore, the presence of diabetic retinopathy, duration or control of diabetics, and fasting blood sugar did not influence the frequency of abnormal esophageal emptying. Our data indicate that esophageal dysfunction is common in male diabetics even in the absence of clinical PN and retinopathy, suggesting that diabetic gastroenteropathy can occur in the absence of significant diabetic complications. Commonly observed abnormal esophageal manometry in diabetics is not necessarily accompanied by significant functional disturbances or symptoms.
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PMID:Radionuclide esophageal emptying and manometric studies in diabetes mellitus. 360 23

Oesophageal emptying of solids was studied with a scintigraphic technique in 12 patients with insulin dependent diabetes complicated by autonomic neuropathy and in 22 control subjects. In the diabetics the acute and chronic effects of oral domperidone on oesophageal emptying and symptoms of heartburn and dysphagia were assessed. The number of swallows required to clear the oesophagus in the diabetics (median 9.5, range 2-30) was significantly greater (P less than 0.001) than in normal controls (median 2, range 1-14). Domperidone did not increase solid oesophageal emptying in diabetic patients either after acute or after chronic administration.
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PMID:The effect of domperidone on oesophageal emptying in diabetic autonomic neuropathy. 399 93

Esophageal motility disturbances are common in diabetics in general and are most prevalent in these with peripheral neuropathy or autonomic neuropathy. The usual findings are a decrease in the amplitude of esophageal contractions in the smooth muscle portion of the body, frequent absence of primary peristalsis, simultaneous or repetitive body contractions, and a decrease in the velocity of peristalsis. Radiographically, this may be manifest as delayed esophageal emptying. These changes do not produce symptoms. Dysphagia and chest pain should be thoroughly evaluated and not ascribed to the diabetes. Candidiasis may be more common in diabetics.
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PMID:Esophageal disorders in diabetes mellitus. 642 49

A cross-sectional study was designed to identify a relationship between the presence of symptoms usually related to nervous system involvement as well as other chronic complications of diabetes with three objectively defined degrees of autonomic neuropathy (AN). Symptoms usually related to peripheral sensitive neuropathy and AN were assessed using a questionnaire applied to 132 diabetics (38 IDDM and 94 NIDDM), 65 without and 67 with AN. AN was classified as follows according to 5 cardiovascular autonomic tests described by Ewing: 1) early involvement-1 abnormal test (N = 27); 2) definite involvement-2 or 3 abnormal tests (N = 26); 3) severe involvement-4 or 5 abnormal tests (N = 14). A statistically significant association was observed between degree of autonomic involvement and the presence of the following symptoms: dizziness on standing, dysphagia, vomiting, diarrhea, fecal incontinence, gustatory sweating, urinary retention, numbness and hyperesthesia of the feet or legs. Constipation and cystitis were not significantly related to cardiovascular AN. Only 3% of the patients without neuropathy and with early involvement had four or more than four of the symptoms. The prevalence of proliferative retinopathy and nephropathy was increased among patients with more severe degrees of AN. For IDDM patients there was a positive correlation between the degree of cardiovascular AN and the duration of diabetes. We conclude that: 1) severe cardiovascular AN is usually related to 4 or more of the evaluated symptoms and those patients usually have the other complications of diabetes; 2) severe AN could be a risk factor or an indicator of the same underlying process that determines the beginning of proliferative retinopathy and/or nephropathy.
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PMID:Relationship between the degree of cardiovascular autonomic dysfunction and symptoms of neuropathy and other complications of diabetes mellitus. 858 Aug 65

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

The transthyretin Tyr77 variant of familial amyloid polyneuropathy (FAP) has been identified in a few North American and European patients, but the full spectrum of its clinical manifestations is still not known. We report a 3-generation family of Jewish-Yemenite origin with Tyr77 FAP presenting with atypical features. The affected individuals had sensorimotor and autonomic neuropathy and cardiomyopathy accompanied by prominent dysphagia, hearing loss and asymptomatic carpal tunnel syndrome. Brain MRI in the proband showed multifocal white matter lesions. These features extend the reported Tyr77 phenotype and support the modifying effect of additional factors on the disease expression.
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PMID:Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy. 1575 13

Acute pandysautonomia is a rare acute autonomic neuropathy that mainly affects young women. We report a case of idiopathic acute pandysautonomia associated with an esophageal achalasia in a 30-year-old woman. The clinical features were inaugural dysphagia followed by signs of parasympathetic failure of the entire digestive tract, bladder and pupils. Twenty-four hours of electrocardiographic recording showed involvement of sympathetic adrenergic nerves. Esophageal achalasia was patent on esophageal manometry. Upper digestive tract motility was first involved and then extended to the entire digestive tract with intestinal obstruction, which required emergency ileostomy. Recovery of autonomic functions was slow. After 16 months, dysphagia and gut paresis improved and digestive continuity was restored. In case of subacute intestinal pseudo-obstruction associated with autonomic dysfunction, acute pandysautonomia should be suspected. In our report, the association with esophageal achalasia is uncommon.
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PMID:[Slowly regressing acute pandysautonomia associated with esophageal achalasia: a case report]. 1840 50