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)

The first instance of familial oculopharyngeal muscular dystrophy (OPMD) affecting a Japanese family is reported. Three patients (a 62-year-old female, her sisters 66-year-old and 53-year-old) were described with suspicious other 2 cases. A 62-year-old woman (case 1) developed bilateral blepharoptosis at the age of 52. Then she became aware of difficulty in swallowing solid foods, had developed a nasal voice and aspiration of liquids. On admission, neurological examination revealed moderate bilateral blepharoptosis, nasal voice, dysphagia and hyporeflexia of the pharynx. There was mild weakness of the muscles of the temporalis, masseter, face, neck and proximal portions of the upper limbs. The levels of serum creatine phosphokinase, lactic acid and pyruvic acid were normal. Tensilon test was negative. The needle EMG showed a myogenic pattern with no waning phenomenon. Nasopharyngeal fiberscopy, laryngoscopy, esophageal fluoroscopy and hydrodynamic examination showed dyskinesis of the soft palate, retention of saliva in recessus piriformis and streaming into the larynx. Cricopharyngeal myotomy was performed for the purpose of relieving the dysphagia. The muscles were obtained from cricopharyngeus of both sides during surgery, and right deltoid muscle in biopsy. The muscles of sternohyoideus and deltoideus showed myogenic changes, and some fibers with rimmed vacuoles especially in small angulated fibers under the light microscope. Whereas the crycopharyngeus showed dystrophic change, which was apparent in the right side. There were also nemaline rods found in a few fibers undergoing necrosis. ATPase preparations revealed type 1 predominant in cricopharyngeus and type 2 predominant in sternohyoideus. Most atrophic fibers were in type 1 fibers.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Oculopharyngeal muscular dystrophy in a Japanese family]. 218 63

Aspiration, or soiling of the tracheobronchial tree, can produce life-threatening pulmonary disease. Intermittent or persistent aspiration may cause symptoms including cough, intermittent fever, recurrent tracheobronchitis, atelectasis, pneumonia, and/or empyema. The pulmonary disease may be associated with weight loss, cachexia, and dehydration. In many cases the aspiration is caused by laryngeal dysfunction, allowing pulmonary contamination by swallowed material. In other cases the aspiration is caused by a dysfunction of the oral, pharyngeal, or esophageal phases of swallowing. In some cases the aspiration is caused by a combination of laryngeal and swallowing dysfunction. Geriatric patients are more likely to experience aspiration, since muscle weakness causing mechanical disability and neurologic impairment are more common in this age group. Therefore, with the ever-increasing aging of our population, these disabilities will be on the rise, with an associated increase in pulmonary disease and death. The approach to evaluation and management of these disorders must be based on an understanding of the underlying functional impairment.
Dysphagia 1990
PMID:Approaches to the patient with aspiration and swallowing disabilities. 224 88

Mitochondria are unique among intracellular organelles because they contain their own DNA, which can be transcribed and translated to form proteins. Mitochondrial diseases include myopathies and multisystem disorders. The case of a patient showing bilateral ophthalmoplegia with proximal limb weakness, severe dysphagia and short stature, without family history, is described. The analysis of mitochondrial DNA of the patient muscle revealed a deleted form accounting for 65% of the total mitochondrial DNA. The Southern Blot Analysis of mtDNA allows a rather precise localization of deletions giving new insights in the pathogenesis of mitochondrial myopathies and representing a new precious diagnostic tool in these diseases.
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PMID:[Mitochondrial DNA deletion in a case of progressive ophthalmoplegia]. 227 55

We followed 205 of 232 patients with medically intractable cervical dystonia for at least 3 months and up to 4 years, during which time they received 1,074 injections in 505 visits. One hundred forty-five of the 205 patients (71%) improved substantially (global rating greater than or equal to 2; from 0 = no response to 4 = marked improvement in severity and function) after 1 or more visits. Of the 89 patients who reported pain, 68 (76%) had almost complete relief of their pain. While most patients noted improvement within the 1st week after injection, some had a latency of up to 8.5 weeks. Duration of maximum benefit lasted up to 12.5 months in some, but the average was 11.2 weeks. Only 58 of 205 (28%) patients, seen in 76 of 505 visits (15% of all visits), had complications, primarily mild dysphagia (35 patients) or neck weakness (17 patients). We conclude that botulinum toxin is a safe and effective therapy for most patients with cervical dystonia.
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PMID:Botulinum toxin injections for cervical dystonia. 230 Feb 49

We report the case of a 62-year old man presenting with generalized muscular weakness, amyotrophy, dysarthria and dysphagia. Neurological examination showed bilateral pyramidal signs and lingual fasciculations. The clinical diagnosis was amyotrophic lateral sclerosis, since only shivers and weight loss pointed to hyperthyroidism. However, after several months the patient developed typical manifestations of hyperthyroidism. After treatment of hyperthyroidism, the neurological symptoms disappeared. Although this association is extremely rare, one must have in mind the possibility of thyroid dysfunction when studying patients with amyotrophic lateral sclerosis.
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PMID:[Amyotrophic lateral sclerosis syndrome and hyperthyroidism. Cure with antithyroid drugs]. 233 Apr 66

Systemic sclerosis is more common among men exposed to silica-containing dust than in the general male population. The clinical features of systemic sclerosis in a group of 24 black goldminers are described. The better-known presenting features of systemic sclerosis, including Raynaud's phenomenon and dysphagia, were rare in this population. Initial presentation was usually with nonspecific features including swelling of the feet or hands, weakness, arthralgia or symptoms of respiratory or cardiac disease. Clinical evidence of pleural or pericardial involvement was more common than is usually described in non-occupational systemic sclerosis. Interstitial lung disease was frequently encountered and renal disease was rare.
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PMID:Features of systemic sclerosis (scleroderma) in South African goldminers. 233 May 24

A case of bilateral eyelid ptosis was observed in a woman aged 35. She had also some weakness of the muscles of the upper extremities and periodic dysphagia. These symptoms progressed gradually during 20 years. The clinical manifestations and the results of other investigations (EMG, muscle biopsy) made possible the diagnosis of sporadic ophthalmic form of progressive muscular dystrophy.
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PMID:[A case of ophthalmic manifestations in progressive muscular dystrophy]. 236 7

Neuronal intranuclear hyaline inclusion disease (NIHID) has been recognized in 14 patients. It usually occurs in the first and second decades but has been seen in the sixth. Both sexes are affected by this sporadic multisystem degenerative disorder that has involved the central and peripheral nervous systems with fibrillar and granular intranuclear inclusions. NIHID appears to be several variants of a multisystem degenerative disease as illustrated by the combination of a spontaneous, degenerative central and peripheral nervous system disorder with neuronal intranuclear inclusions and severe atherosclerotic coronary artery disease in a 23-year-old white man. Beginning at 11 years of age, this patient had experienced diffuse muscle spasms, dysarthria, dysphagia, tremors, ataxia, oculogyric crises, progressive muscle weakness, and atrophy. At autopsy, neuronal intranuclear hyaline inclusions and neuronal loss were seen in his brain, brainstem, cerebellum, spinal cord, bowel, bladder, and esophagus. These fibrillary and granular Cowdry type A and B intraneuronal inclusions were consistent with the diagnosis of NIHID associated with severe coronary atherosclerosis.
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PMID:Neuronal intranuclear hyaline inclusion disease associated with premature coronary atherosclerosis. 244 45

We evaluated and presented here, the features of the eleven cases of food-borne botulism who admitted to the Infectious Diseases Department of Ibni Sina Hospital of Ankara University. Three of the cases admitted in 1984 and eight of them admitted in 1987. All of the cases were caused by home-prepared foods which had been eaten without cooking; the types of the food were green beans and pepper with sauce. In these cases the main symptoms and signs were generalized muscular weakness, dry mouth, dysphagia, diplopia, ptosis of the eyelids; besides these the other clinical symptoms and signs were seen in some patients. Although toxin couldn't be detected in the patients' sera by mouse-toxin neutralization, the EMG findings supported our diagnoses. To the three patients in the first group, botulinal anti-toxin was not given and two of them died. Anti-toxin was administered to the seven patients in the second group, none of them died.
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PMID:[Food-borne botulism and its epidemiological features as seen in our country during the last few years]. 248 35

We monitored respiratory patterns, transcutaneous PO2 (tcPO2) and transcutaneous PCO2 (tcPO2) in three infants with clefts and severe failure to thrive. Unexplained dysphagia, muscular weakness and cardiac enlargement were other prominent symptoms. During sleep, repeated obstructive apneas accompanied by significant hypoxemia (tcPO2 less than 6 kPa) were recorded in all infants. Relief of the respiratory obstructions by means of nasopharyngeal intubation led to rapid growth catch-up and disappearance of the cardiac and gastrointestinal symptoms. This improvement in clinical condition was paralleled by an increase in transcutaneous PO2. Palatal closure according to Veau-Wardill-Killner led to a marked decrease in the number of airway obstructions and a significant improvement in blood gas homeostasis. The clinical condition of the infants was equally improved. We suggest that a respiratory investigation should be performed in infants with clefts and poor growth in spite of adequate caloric intake. Early closure of the palate should be considered in infants with signs of a respiratory failure.
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PMID:The effect of palatoplasty on airway patency and growth in infants with clefts and failure to thrive. 251 Feb 93


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