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

A 35-year-old man with a past history of achalasia developed progressive spastic tetraparesis, distal limb atrophy, dysarthria, and dysphagia. A clinical diagnosis of amyotrophic lateral sclerosis (ALS) was considered before neurophysiological investigation, which disclosed a polyneuropathy and a prolonged central conduction time. One year later, the patient developed dysautonomic symptoms. Following confirmation of adrenal insufficiency, a diagnosis of Allgrove syndrome was made. This is a rare case, and we emphasize its clinical similarity with ALS.
 ...
PMID:Allgrove syndrome in adulthood. 1118 Feb 14

Dysphagia is a common problem in older patients and is becoming a larger health care problem as the populations of the United States and other developed countries rapidly age. Changes in physiology with aging are seen in the upper esophageal sphincter and pharyngeal region in both symptomatic and asymptomatic older individuals. Age related changes in the esophageal body and lower esophageal sphincter are more difficult to identify, while esophageal sensation certainly is blunted with age. Stroke, Parkinson's disease, amyotrophic lateral sclerosis, Zenker's diverticula, and several other motility and structural disorders may cause oropharyngeal dysphagia in an older patient. Esophageal dysphagia can also be caused by both disorders of motility (achalasia, diffuse esophageal spasm, scleroderma and others) and structure (malignancy, strictures, rings, external compression, and others). Many of these disorders have an increased prevalence in older patients and should be sought with an appropriate diagnostic evaluation in older patients. The treatment of dysphagia in older patients is similar to that in younger patients, but more invasive therapies such as surgery may not be possible in some older patients making less aggressive medical and endoscopic therapy more attractive.
 ...
PMID:Dysphagia in aging. 1634 Jun 44

Triple A or Allgrove syndrome is a rare autosomal recessive disease with alacrima, achalasia, and ACTH-resistant adrenal insufficiency. It is usually associated with neurological disorders. Recently, mutations in the AAAS, a candidate gene mapped to chromosome 12q13, were identified. We report a family with seven affected siblings. All of them have signs of alacrima, four were operated on for achalasia, five have neurological abnormalities including cranial nerve abnormalities, amyotrophic lateral sclerosis, pyramidal syndrome, distal motor neuropathy, and amyotrophy, and two have adrenal insufficiency. Triple A syndrome should be considered in any young patient with alacrima.
 ...
PMID:[Allgrove syndrome. Report on a family]. 1688 10

We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. A diagnosis of juvenile ALS was considered. However, surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms. Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS.
 ...
PMID:Triple A syndrome mimicking ALS. 1861 37

Allgrove syndrome or triple-A syndrome is an autosomal recessive disorder characterized by adrenal insufficiency, achalasia and alacrima. Affected patients may also present with a constellation of central and peripheral nervous system manifestations. The gene for Allgrove syndrome (ALADIN) is located on chromosome 12q13. Here we report a 23-year-old man with alacrimia, achalasia, optic atrophy and progressive amyotrophic lateral sclerosis-like presentations. Sequencing of ALADIN gene showed a novel 6-bp sequence variant that the patient was homozygous and his father was heterozygous for the defect. A probable mechanism of action of this newly diagnosed missense mutation would be to cause abnormal splicing of the ALADIN gene.
 ...
PMID:A novel DNA sequence variation in the first genetically confirmed allgrove syndrome in iran. 1907 97