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)

In five of seven siblings of healthy parents, dysphagia developed during adolescence or early adult life. A barium swallow was normal in one patient but showed appearances considered to be consistent with achalasia in all others. Oesophageal manometry was successfully performed in four of the five patients, including the patient with symptoms but normal radiological appearance. One patient had achalasia, two had oesophageal body motor dysfunction associated with a hypertensive, but normally relaxing lower oesophageal sphincter, and one had diffuse oesophageal spasm alone. The occurrence of three different oesophageal dysmotility disorders within members of a single sibship suggests that these conditions are intimately related and probably genetically determined as an autosomal recessive trait.
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PMID:Familial coexistence of achalasia and non-achalasic oesophageal dysmotility: evidence for a common pathogenesis. 144 73

The charts of 83 children with chest pain who underwent esophageal manometry followed by esophagogastroscopy were reviewed. Forty-seven (57%) had normal esophageal histology and normal motility (group I). Esophagitis and normal motility were demonstrated in 15 children (group II), normal esophageal histology and esophageal dysmotility in 13 (group III), and both esophagitis and abnormal motility in 8 (group IV). Diffuse esophageal spasm and achalasia were the most common motility disorders identified (in seven and four patients, respectively). The presence and duration of symptoms, the age, and the gender were not different among the four patient groups. After six months of H2-receptor blockade, 12 of 15 group II patients were asymptomatic, whereas a significantly smaller percentage (five of 18) of patients with abnormal esophageal motility responded to esophageal dilation or treatment with calcium channel blockade, H2-receptor antagonist, and/or prokinetic agents (P less than 0.01). These data suggest that the evaluation of children with chest pain should include esophageal motility testing and esophagoscopy, even in the absence of other gastrointestinal-associated symptoms, and that while treatment of esophagitis results in resolution of symptoms, motility disorders were relatively refractory to therapy.
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PMID:Spectrum of esophageal disorders in children with chest pain. 156 6

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

Two patients were referred because of persistent dysphagia which developed for the first time after Nissen fundoplication. Investigations, including oesophageal manometry, demonstrated the presence of achalasia in one case, confirmed histologically, and aperistaltic oesophagus associated with an underlying connective tissue disorder in the other case. Our observations highlight the importance of assessing oesophageal motility before referring patients for anti-reflux surgery and illustrate the effect of such surgery on patients in whom oesophageal dysmotility was not suspected.
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PMID:Aperistaltic oesophageal disorders unmasked by severe post-fundoplication dysphagia. 208 51

Secondary or "pseudo" achalasia of the esophagus can mimic idiopathic achalasia radiographically and can be difficult to diagnose. Typically, it is due to invasive carcinoma involving the gastroesophageal junction, usually gastric adenocarcinoma. Occasionally, an achalasialike condition can be produced by tumors not involving the gastroesophageal junction. We report 2 cases, 1 of lung carcinoma and the other of hepatoma, in which the patients had radiographic and endoscopic changes compatible with achalasia. However, the onset of symptoms was abrupt and the patients were elderly; these are unusual features for primary achalasia. There have been several other reports of nongastrointestinal neoplasms producing a clinical and radiographic picture similar to achalasia. Although there are several theories as to the cause, our cases would support the concept that direct tumor involvement of the gastroesophageal junction is not necessary to produce significant esophageal dysmotility.
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PMID:Achalasia secondary to nongastrointestinal malignancies. 299 89

Esophageal motility disorders consist of a complex array of disturbances in normal esophageal function associated with dysphagia, gastroesophageal reflux, and noncardiac chest pain. A thorough knowledge of normal esophageal anatomy and physiology is important to a full understanding of these motility derangements. Through a complicated interaction of neuromuscular and hormonal influences, the voluntary act of swallowing transforms into an automated sequence of peristaltic waves propelling food and liquids into the stomach in concert with coordinated relaxation of the sphincters. Anatomic and physiologic barriers exist within the esophagus protecting against gastroesophageal reflux and aspiration. With improvements in diagnostic tools such as barium contrast radiography, scintigraphy, pH measurements, and esophageal manometrics with provocative testing, motility disorders have become better defined and understood. Primary motility disorders consist of achalasia, diffuse esophageal spasm (DES), "nutcracker esophagus," hypertensive lower esophageal sphincter, and nonspecific esophageal motility dysfunction (NEMD). A host of secondary and miscellaneous motility disorders also affect the esophagus, including scleroderma and other connective tissue diseases, diabetes mellitus, Chagas' disease, chronic idiopathic intestinal pseudo-obstruction, and neuromuscular disorders of striated muscle. Gastroesophageal reflux disease (GERD) may also be promoted by associated motility disturbances. Treatment modalities include surgical myotomy; dilatation; and pharmacologic manipulations, including use of nitrates, calcium-channel blockers, H2-blockers, and psychotropic drugs where appropriate.
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PMID:Esophageal motility disorders. 329 77

We have reviewed our experience of 150 patients to assess the clinical value of radionuclide oesophageal transit measurements in relation to established oesophageal motility investigations. Achalasia and conditions characterised by incoordinate oesophageal motor activity were detected with equal frequency by manometry and radionuclide transit measurement. Radionuclide transit measurements identified abnormalities not detected by manometry in 18 patients, and manometry was abnormal in 26 patients with normal radionuclide studies, including all patients with nutcracker oesophagus and most with hypertensive lower oesophageal sphincter. The overall sensitivity of radionuclide transit measurements in detecting oesophageal dysmotility was 75%, the sensitivity of manometry was 83% and that of conventional barium radiology 30%. We conclude that radionuclide transit measurement is a useful test for patients with suspected oesophageal motility disorders. Although it has limitations as a screening test, it provides additional information which complements oesophageal manometry.
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PMID:Clinical value of radionuclide oesophageal transit measurement. 372 Dec 88

Computer analysed transit of a liquid bolus containing Tc99m (RT) was compared with manometry for the detection of oesophageal motility disorders in 151 patients with a variety of oesophageal symptoms. Manometry was abnormal in 99 of whom 44 had abnormal RT (sensitivity 44%); it was normal in 52 of whom 37 had normal RT (specificity 71%). The commonest manometric abnormalities were non-specific motility disorders characterised by abnormalities of peristaltic amplitude, waveform or baseline. Radionuclide transit was abnormal in only 32/77 (42%) of these. Achalasia, which is characterised by complete aperistalsis, was the least common diagnosis, but all five cases had abnormal RT. Simultaneous manometry and RT in 30 patients showed that the transit of a liquid bolus through the oesophagus is determined by the propagation rather than the form of the peristaltic contraction. Because non-specific motility disorders are common in clinical practice, RT is not a useful screening test for oesophageal dysmotility.
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PMID:Scintigraphic assessment of oesophageal motility: what does it show and how reliable is it? 373 2

We analysed the charts of paediatric patients suffering from oesophageal disorders in 5 departments of paediatric surgery in Switzerland from 1972-1993 finding only 16 patients with proven achalasia (0.6%). The personal history showed a wide gap of several years from the first symptoms until diagnosis and treatment due to false interpretation of symptoms. Dilatations alone have never been definitely successful. In 16 patients, a Heller's procedure was done, 2 had an additional Thal, 12 a Nissen fundoplication, one a hiatoplasty and one no antireflux procedure. 3 patients needed further postoperative dilatations for several months up to 3 1/2 years. One patient suffering from an AAA syndrome (Achalasia/Alacrimia/ACTH deficiency) did not improve after Heller's procedure with Nissen fundoplication and dilatations. We finally had to resect the oesophagus and replace it by gastric transposition. Two children were lost for long-term follow-up. In 14 patients the follow-up is more than 10 years. 14 patients take normal food and are in the normal percentiles for length and height. Achalasia in childhood shows a wide spectrum of oesophageal dysmotility. In many cases, the propulsive force might be so weak that only a very lose antireflux procedure is tolerated. Occasionally, the whole oesophagus is without appropriate function and has finally to be resected as in our patient suffering from AAA syndrome. This child is now free of clinical pathological symptoms since several years.
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PMID:Achalasia in childhood and adolescence. 798 Nov 69

The main aim of the study was to determine prospectively, in patients referred for oesophageal manometry, whether certain combinations of oesophageal symptoms are more likely than others to predict the presence of oesophageal dysmotility or a positive response to acid perfusion testing. In 524 consecutive patients, presenting predominantly with (non-cardiac) chest pain (n = 277), dysphagia (n = 186), or heartburn (n = 61), a standardized symptom assessment was completed before oesophageal manometry and acid perfusion testing. Half the patients in each group reported additional ('secondary') oesophageal symptoms as well as the predominant symptom. Oesophageal dysmotility was categorized in accordance with standard manometric criteria for achalasia, diffuse oesophageal spasm, nutcracker oesophagus, hypertensive lower oesophageal sphincter, or non-specific oesophageal motility disorder. In the predominant chest pain group, the prevalence of abnormal manometry was 33%; in the presence of secondary symptoms, especially dysphagia rather than heartburn, however, the prevalence was significantly (p < 0.01) increased. Also in the predominant chest pain group the prevalence of positive acid perfusion testing (44%) was significantly greater (p < 0.05) in those with than in those without secondary symptoms. In the predominant dysphagia group, the prevalence of abnormal manometry was higher than in the other two groups (56%; p < 0.001) but was not affected by the presence or absence of secondary symptoms; this latter finding was also true for the predominant heartburn group. The distribution of specific manometric disorders in any group was not related to the presence or type of secondary symptoms, although a combination of dysphagia and chest pain discriminated achalasia from other manometric disorders.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Predictive value of symptom profiles in patients with suspected oesophageal dysmotility. 803 53


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