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

We describe two sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. Nerve conduction velocity of several motor nerves was slow, and although no sensory abnormalities were present, sural nerve biopsy revealed severe nonspecific demyelination. No similar patients could be found in the literature and we therefore suggest the possibility that these individuals have a newly recognized hereditary syndrome.
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PMID:Peripheral motor neuropathy associated with autonomic dysfunction in two sisters: new hereditary syndrome? 728 84

Review of 20 patients with glucocorticoid deficiency (three cases also with salt loss) associated with absent tear secretion (19 cases) and achalasia of the cardia (15 cases) revealed neurological abnormalities in 17 including hyper-reflexia, muscle weakness, dysarthria, and ataxia together with impaired intelligence and abnormal autonomic function, particularly postural hypotension. These findings indicate that significant neurological problems are common in this multisystem disorder.
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PMID:Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. 833 72

Achalasia is very uncommon in children. It is still more when it is associated with alacrima and adrenal insufficiency, a disorder known as Allgrove's Syndrome (Triple-A-Syndrome). This paper describes a 21-years-old man with lack of lacrimation, achalasia and glucocorticoid deficiency. Additional features included: Hyperreflexia, pes cavus, muscle weakness, and nasal speech. Indicating that the disorder has a wide spectrum of clinical manifestations. This case has been diagnosed at adulthood.
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PMID:[Allgrove syndrome (achalasia-alacrima-adrenal gland insufficiency): report of a case]. 892 56

Several endoscopic dilatations of the distal esophagus had been performed on this 77 year old woman with achalasia and secondary epiphrenic diverticulum. At present, swallowing was not essentially hampered and the body weight was stable. She was admitted for general weakness and a fall. The investigations revealed a traumatic pelvic fracture, as well as microcytic hypochromic anemia and marked hypoproteinemia. Endoscopy of the upper gastrointestinal tract showed an extreme inflammatory reaction of the mucosa. It was postulated that bacterial overgrowth had spread from the esophageal diverticulum to the upper intestinal tract and induced infectious anemia and protein-loosing enteropathy. Anemia and hypoproteinemia responded well to a treatment with cotrimotazole but relapsed after discontinuation of the antibiotics.
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PMID:[Generalized weakness in pre-existing achalasia]. 932 24

A 64-year-old man had intense dysphagia and aspiration of 1 month's duration. The patient had lower esophageal sphincter (LES) achalasia and cricopharyngeal dysfunction, with generalized muscle weakness discovered by neurologic examination. Endoscopy showed no lesions of the mouth, pharynx, larynx, or esophagus. The diagnosis of achalasia was made by manometry. The LES did not relax with deglutition; the contractions in the esophageal body were nonperistaltic and of low amplitude; and the upper esophageal sphincter pressure did not decrease after deglutition. A scintigraphic study of the oral and pharyngeal phases of swallowing showed a mouth and pharyngeal retention of 90% of the volume swallowed.
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PMID:Cricopharyngeal dysfunction in a patient with achalasia. 960 Mar 73

Hereditary primary adrenal insufficiency syndromes due to ACTH resistance include hereditary glucocorticoid deficiency (HGD) and Allgrove's syndrome (AS). Patients with both conditions present in childhood with failure to thrive, weakness, and fatigue or adrenal crisis; patients with AS in addition have alacrima and achalasia (triple A syndrome). We studied four kindreds with HGD and four kindreds with AS for abnormalities of the ACTH receptor (ACTHR) gene. The ACTHR coding sequence in all AS kindreds and two HGD kindreds was normal. Analysis of the ACTHR gene of the proband in one of the HGD kindreds showed him to be homozygous for the previously described G221T transition causing a Ser74Ile substitution of the protein, which has been shown to inactivate the ACTHR in signal transduction. The proband in another HGD kindred was found to be a compound heterozygote with the G221T transition in one allele and a novel C818A transition in the other allele of ACTHR. The C818A transition caused the substitution of the highly conserved Pro273 by His in the receptor protein. In vitro expression of the mutated ACTHR in mouse melanoma M3 cells showed that at a medium ACTH concentration of 3 nM, cells transfected with the wild-type ACTHR produced twofold and threefold, respectively, of the amount of intracellular cAMP when compared to cells transfected with the ACTHR carrying the Pro273His and the Ser74Ile mutation, respectively, confirming that HGD in this kindred is caused by loss-of-function mutations of the ACTHR. These results showed that the genetic cause of the ACTH-resistant syndromes is heterogeneous.
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PMID:Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency. 975 16

Dysphagia is related to the impairment of food passage from the mouth to the stomach. Globus pharyngis implies the frequent and often painful sensation of a lump in the throat that usually does not interfere with swallowing and may even be relieved by food intake. The diagnosis is based upon a careful history, clinical examination, endoscopy, dynamic imaging (videofluoroscopy, cinematography, videosonography) and electrophysiologic procedures (including pharyngoesophageal manometry, electromyography and pH determinations). Structural lesions of the cervical spine such as diffuse idiopathic skeletal hyperostosis are rare causes of dysphagia. Dysphagia following anterior cervical fusion as well as globus and dysphonia due to dysfunction of the vertebral joints are more likely. Symptoms with swallowing fluids indicate a neurogenic origin. Dyscoordinated swallowing, nasal reflux, dysphonia or general weakness may also occur. Chronic aspiration with respiratory compromize is the main consequence in a variety of neurological disorders as well as in cases of postsurgical dysphagia. Relaxation of the upper esophageal sphincter indicates coordinated muscle movement between the pharynx and esophagus. Dysfunction of the pharyngoesophageal segment may lead to cricopharyngeal achalasia. A dyskinetic sphincter commonly represents an extrapharyngeal cause: i.e., disease associated with gastroesophageal reflux. Disorders of the esophageal phase of deglutition can produce retrosternal pain, heartburn, regurgitation and vomiting, as well as laryngeal and respiratory signs. Esophageal motility disorders include lower achalasia, tumors, peptic strictures, inflammatory diseases, drug-induced ulcers, rings and webs. Motility disorders present with aperistaltic, spontaneous contractions, diffuse esophagospasm, or a hypermotile esophagus. Gastroesophageal reflux with esophagitis must always be excluded, especially in patients with a globus sensation. The multiple features of the appearance of the symptoms of dysphagia and globus makes multidisciplinary approach necessary in order to establish a diagnosis and begin effective treatment.
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PMID:[Deglutition disorders]. 977 28

An eight-year-old, male boxer dog was presented with a one-month history of hindlimb weakness followed by compulsive ineffective drinking, dysphagia, regurgitation and nasal reflux during drinking. A neurological examination revealed weakness and conscious proprioception deficits in both hindlimbs with normal spinal reflexes. The dog's swallowing function was examined by fluoroscopy. This showed normal prehension of the barium paste, bolus formation and contraction of the pharyngeal muscle, but no opening of the upper oesophageal sphincter was detected. A serum thyroid stimulating hormone level of 0.402 ng/dl and serum total T4 of 0-01 microg/dl were determined. The dog fully recovered one month after L-thyroxine therapy. The association found between cricopharyngeal achalasia and hypothyroidism suggests that hypothyroidism should be included in the list of differential diagnoses for dogs with cricopharyngeal achalasia.
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PMID:L-thyroxine responsive cricopharyngeal achalasia associated with hypothyroidism in a dog. 1630 Jan 18

Allgrove syndrome (triple A syndrome) is a rare autosomal recessive disorder characterized by achalasia, alacrima, adrenal insufficiency, and--occasionally--autonomic instability. Disease causing mutations have been found in the AAAS gene on 12q13, but no strong phenotype-genotype correlation could be found. We present a 28 year-old woman with classical systemic features of triple A syndrome with prominent neurological dysfunctions/deficits, including distal muscular atrophy, progressive muscle weakness and wasting of both legs, sensibility dysfunction, hyperreflexia and autonomic dysfunction presented with excessive sweating. DNA sequencing of the AAAS gene revealed compound heterozygosity for previously reported mutations. A similar genotype was previously reported, but with a remarkably different phenotype.
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PMID:Heterogeneity of the triple A syndrome and assessment of a case. 1697 37


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