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)

Most muscular dystrophies manifest as peripheral muscular weakness commencing at various age, however, oculopharyngeal muscular dystrophy (OPMD) is a rare hereditary disorder presenting in middle age with progressive dysphagia and bilateral blepharoptosis rather than peripheral muscular weakness. In the medical literature, OPMD has been well described in Canadians of French descent. So far, there is no publication of OPMD in the Malaysia-Singapore medical literature. This article documents this condition in a Chinese patient. A review of the literature is presented and the management of OPMD is discussed.
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PMID:Oculopharyngeal muscular dystrophy: a case report and a review of literature. 141 91

Familial dysautonomia (FD) is a rare incurable genetic disorder with multisystem involvement. Most of its clinical manifestations are related to disorders of the autonomic nervous system. The disease is associated with specific disturbances of the upper gastrointestinal tract: pharyngoesophageal dyskinesia, gastroesophageal reflux, and prolonged gastric emptying. About 40% of the dysautonomic children manifest repeat vomiting crises. In view of the extensive gastrointestinal symptomatology, children with FD are prone to repeated aspiration pneumonia and chronic respiratory failure, while inadequate calory and fluid intake may lead to a chronic state of hypovolemia and severe failure to thrive. Control of vomiting, prevention of aspiration due to abnormal swallowing, and the assurance of adequate calory intake are three major objectives in the treatment of the dysautonomic child. Medical treatment of the gastrointestinal disorders using different drugs has had limited success. This study reviews the surgical experience in ten children with FD. The type of the procedure used was determined by the severity of the upper GI disturbances. Nine children underwent gastroesophageal Nissen fundoplication and gastrostomy. In seven of them, a pyloroplasty was added. Gastrostomy alone was done in one patient only. Postoperative complications included transient dysphagia in four patients, gastric dilatation in four patients, and dumping syndrome in one. There has been no incidence of immediate postoperative death. One child died 6 months after operation from severe and irreversible respiratory failure. Following operation, the patients still suffered from dysautonomic crises but these were not associated with vomiting.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The surgical management of children with familial dysautonomia. 408 89

Diseases of the skin and the gastrointestinal tract may occur together. It is important to examine the skin of everyone showing a gastrointestinal problem. Gastrointestinal signs and symptoms in dermatologic diseases may occur with dysphagia, abdominal pain, gastrointestinal bleeding and diarrhea with or without malabsorption. In general the cause is found in a genetic disorder, or it is infectious, drug-induced, inflammatory or related to a malignant disorder. Polyposis are hamartomatous tumors or result as an inflammatory reaction. All these syndromes may present with cutaneous lesions. As malignant degeneration of polyps often develops, the early diagnosis and preventive treatment is crucial. Inflammatory bowel disease is often associated with skin complications such as pyoderma gangrenosum and erythema nodosum. Malignant disorders in the gut may metastasize into the skin or may produce rather typical paraneoplastic changes.
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PMID:[Skin symptoms in gastrointestinal diseases]. 775 66

Hallervorden-Spatz syndrome is generally considered to be an autosomal recessively hereditary disorder of unknown etiology. Some reported cases have been known to be sporadic. We present a boy who suffered from regressive developmental milestones since he was 2 years and 6 months old. He began to manifest tremors of the upper extremities, followed by unsteady gait, choreoathetosis, dystonia, dysarthria, and dysphagia at 4 years old, and subsequently became completely bedridden at 6 years old. Neurologically, opisthotonus, rigidity of extremities, dystonia, hyperreflexia, profound emaciation, and bilaterally positive Babinski signs were present. The brain magnetic resonance imaging (MRI) done at the age of 8 years revealed symmetrical low signal intensity over the bilateral globus pallidi in the T2-weighted images coexistent with an area of high signal intensity over the anteromedial portion, known as "eye of the tiger" sign. Another MRI, followed up two years later, did not show marked difference in signal abnormalities over the globus pallidi in the T2-weighted images as compared with that of the previous one. However, progressive neurological deterioration existed.
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PMID:Clinical and MRI study of the Hallervorden-Spatz syndrome: long-term follow-up of one case. 794 31

We describe a pediatric patient with dyskeratosis congenita, whose symptoms included abdominal pain, vomiting, dysphagia, and hematochezia. Gastrointestinal symptom are prominent in this rare genetic disorder.
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PMID:Gastrointestinal problems in a child with dyskeratosis congenita. 865 Nov 92

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disorder with late-onset progressive myopathy affecting mainly head and neck striated muscles. It is more common in certain ethnic communities. Dysphagia was usually attributed to the malfunction of striated pharyngeal muscles. We studied a group of Bukharan immigrants affected by this disorder (N = 13). Esophageal studies, including endoscopy, manometry, and scintigraphic emptying were performed. Very low pharyngeal pressures were measured. Upper esophageal pressures (UEP) were in the normal range in eight patients, and above normal in three patients. Four also had low lower esophageal sphincter pressure. Esophageal body peristaltic activity was grossly impaired in all patients: mainly nonpropulsive, simultaneous, retrograde, and failed activity was recorded. Marked retention of isotopic material was demonstrated in all patients studied, usually in the middle and lower parts of the body, ranging from 17 to 100% retention. The dysphagia in OPMD is due not only to dysfunction of pharyngeal and upper esophageal striated muscle, but also has a significant smooth muscle component.
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PMID:Esophageal smooth muscle dysfunction in oculopharyngeal muscular dystrophy. 868 11

We present a family with congenital cataract with, in some cases, mental retardation and emotional instability, but intellectual deterioration in all affected members. The latter was accompanied by psychosis in some. The inheritance is most likely autosomal dominant, affecting two generations and consisting of a congenitally blind parent and 6 of 11 of her offspring. In addition to these features, some affected individuals had dysphagia and movement disorder, especially choreiform movements. They all showed small body mass, due possibly to poor nutrition from dysphagia. The pathological findings were unique, demonstrating selective atrophy of the granule cell layer of the dentate gyrus. There was selective expression in paraffin-embedded sections of alpha B-crystallin (CRYA2) in oligodendroglia in all areas of the nervous system examined. alpha B-Crystallin is a major optic lens protein but also a heat shock protein and molecular chaperone found in brain and a number of other tissues. Because of the association of congenital cataract and the accumulation in oligodendroglia of alpha B-crystallin, the gene for this protein was sequenced for possible mutation. No mutation was found indicating other genetic locus. This family appears to have a newly recognized genetic disorder.
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PMID:A familial syndrome of congenital cataract, mental impairment, and dentate gyrus atrophy. 912 9

This study describes five patients with slowly developing dysphagia secondary to oculopharyngeal muscular dystrophy (OPMD), a progressive neurological disorder characterized by gradual onset of dysphagia, ptosis, and facial and trunk limb weakness. OPMD is a genetic disorder that affects formerly healthy adults who typically begin to experience symptoms in the fourth or fifth decade of life. Despite the debilitating nature of the disease, it is common for affected individuals to live to old age. Because of the gradual progression of dysphagia, as well as the deterioration of articulation, resonance, and breath support, patients with OPMD may come to the attention of physicians, nurses, and speech pathologists before a diagnosis is made. We hope to heighten awareness of how these subjects developed strategies to cope with their swallowing problems without medical intervention until the disease was producing marked symptoms. Patients with suspected dysphagia should be questioned about overt problems with eating and swallowing, but also about their adaptations and compensatory strategies. A Clinical Interview Questionnaire is included that may yield additional information about hidden dysphagia.
Dysphagia 1997
PMID:Gradual onset of dysphagia: a study of patients with oculopharyngeal muscular dystrophy. 929 39

A 20-year-old woman with a four-week history of dysphagia, weight loss of four kilograms and unspecific abdominal pain was admitted because of sudden haematemesis. The physical examination showed a patient with a prominent kyphoskoliosis. The patient reported of having a situs inversus abdominalis and a tethered cord syndrome. Bladder function disorders were present since childhood. Upper endoscopy demonstrated a 4 cm large, exophytically growing necrotic tumour of the oesophagus. The CT scan showed a space occupying tumour of the oesophagus and metastases in a size of 1.5 cm in both lungs. Further imaging revealed a UICC-Stadium IVB (T2NxMIb ). Histology of the tumour biopsies showed a poor differentiated squamous cell carcinoma. Staging after the 6 th dose cisplatin (100 mg/m2/die) and 5-fluorouracil (5 x 1000 mg/m2/die) showed a mild reduction of the tumour and the metastases. The patient died ten months later of multiorgan failure after severe progress of tumour and metastatic growth. The manifestation of squamous cell carcinoma of the oesophagus is unusual in people at the age of twenty. Genetic and chromosomal analysis of the patient gave no evidence for a hereditary disorder. Drug history revealed that the patient had been treated with the alpha-receptor blocking drug phenoxybenzamine over at least 12 years for bladder dysfunction. Animal experiments of rats with exposition of phenoxybenzamine over 24 months produced gastrointestinal malignomas. By the German admission board phenoxybenzamine is only recommended for short term therapy. It seems to be likely that even in humans phenoxybenzamine acts as a mutagenic substance and should be carefully used in long-term treatment.
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PMID:[Haematemesis and dysphagia in a 20-year-old woman with congenital spine malformation and situs inversus partialis]. 1269 37

Familial dysautonomia (FD) is a neurodevelopmental genetic disorder within the larger classification of hereditary sensory and autonomic neuropathies, each caused by a different genetic error. The FD gene has been identified as IKBKAP. Mutations result in tissue-specific expression of mutant IkappaB kinase-associated protein (IKAP). The genetic error probably affects development, as well as maintenance, of neurons because there is neuropathological and clinical progression. Pathological alterations consist of decreased unmyelinated and small-fiber neurons. Clinical features reflect widespread involvement of sensory and autonomic neurons. Sensory loss includes impaired pain and temperature appreciation. Autonomic features include dysphagia, vomiting crises, blood pressure lability, and sudomotor dysfunction. Central dysfunction includes emotional lability and ataxia. With supportive treatment, prognosis has improved greatly. About 40% of patients are over age 20 years. The cause of death is usually pulmonary failure, unexplained sudden deaths, or renal failure. With the discovery of the genetic defect, definitive treatments are anticipated.
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PMID:Familial dysautonomia. 1498 33


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