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)

We report on two brothers with achalasia, adrenocortical insufficiency, alacrima, short stature, microcephaly, ataxia, optic atrophy, and developmental delay. The parents and three sibs are unaffected. Achalasia, adrenocortical insufficiency, and alacrima comprise a recently characterized familial multisystem disorder of unknown cause. Achalasia has also been described in association with microcephaly and mental retardation in one family and ataxia, optic atrophy, and mental retardation in another. The above reports and these sibs may represent variants of a single pleiotropic recessive gene. We suggest that abnormalities of the central nervous system are a manifestation of the achalasia, adrenocortical insufficiency, alacrima syndrome.
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PMID:Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities. 356 79

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

We report an autosomal recessive form of ataxia that is not allelic to Friedreich's disease in six individuals from a large kindred with family origins traced to a common founder of German-Swiss descent. The disorder begins during early childhood with a concentric contraction of the visual fields and proprioceptive loss. Eventually blindness, a severe sensory ataxia, achalasia, scoliosis, and inanition develop by third decade. Inversion recovery MRIs of the spinal cord in affected individuals demonstrate a hyperintense signal in the posterior columns. Finding the gene responsible for this disorder may aid in our understanding of the mechanisms that cause sensory neuronal degeneration.
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PMID:An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 985 54

Allgrove's or "4 A" syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12q13 in such patients. Manifestations in adult patients are rarely reported. The syndrome usually presents during the first decade of life with dysphagia or severe (occasionally fatal) hypoglycaemic or hypotensive attacks, related to adrenocortical insufficiency. Onset of adrenal insufficiency or other features may be delayed to adulthood. In contrast with paediatric patients, adult patients with Allgrove's syndrome may present with multisystem neurological disease; the childhood history of achalasia or alacrima may be overlooked. The authors describe two families with two affected siblings and a further unrelated patient with typical clinical features of Allgrove's syndrome, who exhibit signs of multisystem neurological disease including hyperreflexia, muscle wasting, dysarthria, ataxia, optic atrophy, and intellectual impairment. None of the cases have developed adrenal insufficiency but all have progressive neurological disability. Autonomic dysfunction was a significant cause of morbidity in two cases. The three index cases represent the longest described follow up of Allgrove's syndrome into adulthood. It is speculated that they represent a subgroup of patients who follow an often undiagnosed chronic neurological course. Recognition of the syndrome presenting in adult life permits treatment of unrecognised autonomic dysfunction, adrenal insufficiency and dysphagia, and appropriate genetic advice.
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PMID:Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease. 1270 Mar 13

Achalasia is an incurable neuromuscular disorder of the esophagus, resulting from destruction of the esophageal myenteric plexus. This leads to aperistalsis and failure of the lower esophageal sphincter to relax after swallowing. Symptoms of achalasia are gradual in onset and include dysphagia, regurgitation, and weight loss. Severe malnutrition can ensue. Wernicke's encephalopathy (WE) is a serious, potentially fatal, neurologic disorder caused by thiamine deficiency (vitamin B(1)), classically described as presenting with a triad of ocular abnormalities, ataxia, and confusion. The incidence is uncertain, and many cases likely go unrecognized. It is usually diagnosed in the alcoholic population. We describe its onset after the successful surgical treatment of achalasia.
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PMID:Wernicke's encephalopathy after laparoscopic cardiomyotomy for achalasia. 1759 43

Wernicke's encephalopathy is a neurological disorder caused by thiamine (vitamin B1) deficiency characterized by vertigo, ataxia, and mental confusion. Wernicke's encephalopathy has a causative association with alcoholism but recently there has been an increased prevalence also in other clinical conditions. In literature potentially fatal Wernicke's encephalopathy onset in an advanced achalasia has been previously reported only once. We describe for the first time an improvement of achalasic symptoms in a young patient affected by end-stage achalasia and anorexia nervosa (coming from ineffective Heller-Dor myotomy) after vitamin B1 supplementation. This case report suggest a potential positive impact of B1 supplementation on end-stage achalasic patients and requires systematic studies to confirm this observation.
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PMID:A case of vomiting in an anorexic achalasic patient. 2309 Aug 6

We report a young woman with the clinical picture of Allgrove syndrome in whom neurological symptoms are prominent. It usually presents in the first decade of life with a deficiency of tears, recurrent vomiting and dysphagia due to achalasia, severe hypoglycemic seizures and shock due to adrenal insufficiency. Neurological symptoms such as hyperreflexia, dysarthria, hypernasal speech, ataxia, sensory impairment, muscle weakness, and mental retardation are extremely slow to develop and manifest at a later age. Diagnosis was based on clinical presentation and laboratory findings. She is the first patient from the Czech Republic with genetic confirmation of Allgrove syndrome. This patient is one of about 100 cases described in the literature and one of the few patients with all the main typical clinical features.
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PMID:Allgrove syndrome with prominent neurological symptoms. Case Report. 2761 95