Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 59-year-old woman has been treated for 5 months with penicillamine for a rheumatoid arthritis and developed a myasthenia syndrome with ptosis, diplopia, dysphagia and asthenia. This myasthenia was slowly cured after suppression of the penicillamine and administration of Mestinon, so that after 3 months, the anticholinesterase medication could be stopped.
 ...
PMID:[Myasthenia syndrome after peroral treatment with penicillamine]. 74 27

Myasthenia gravis is an infrequent disease seen at the neonatal stage. Two main groups are identified: a) one with a genetic origin which can be secondary to pre- or postsynaptic defects and b) of an acquired origin, as transitory neonatal myasthenia seen in 10-15% of those children with myasthenic mothers. Few cases with a genetic origin have been reported in the literature; the most common symptoms being bilateral eyelid ptosis, ophtalmoparesis, easy fatigability, respiratory and feeding difficulties. This is a report of a genetic neonatal case of myasthenia gravis with dysphagia as the only clinical manifestation seen since the first days of the child's life, confirming the diagnosis using a repetitive supramaximal stimulation test and obtaining excellent results with pyridostigmine. We conclude that, although this a rare form of the disease, genetic neonatal myasthenia gravis should be considered in the differential diagnosis of newborns with difficulties to swallow. The repetitive supramaximal stimulation test is the diagnostic procedure of first choice to be used in the neonatal period.
 ...
PMID:[Congenital myasthenia gravis. Presentation of a case with dysphagia as the only clinical manifestation]. 209 41

Four patients with tumours involving or compressing the brain stem are described whose initial clinical symptoms of fluctuating paresis of the external ocular muscles and/or the pharyngeal muscles without other neurological deficits led to the primary diagnosis of focal myasthenia. The combination of an unusual clinical pattern, involvement of muscles of only one ocular nerve or severe dysphagia/dysarthria without extension of the myasthenic symptoms, should lead to further investigation to exclude other reasons of a focal myasthenic syndrome such as a brain-stem tumour.
 ...
PMID:Oculo-bulbar myasthenic symptoms as the sole sign of tumour involving or compressing the brain stem. 227 71

Dysarthria, dysphagia and repeated aspiration in a 54-year-old woman diagnosed and treated for myasthenia gravis 7 years earlier were initially thought to represent a late exacerbation of myasthenia. A cervical mass invading the jugular foramen and causing multiple lower cranial nerve palsies was biopsied and found to represent invasive ectopic thymoma.
 ...
PMID:Late pseudo-exacerbation of myasthenia gravis due to ectopic thymoma invading lower cranial nerves. 231 Oct 16

In an analysis of myasthenia crises during the past 20 years, the incidence of crisis remained fairly constant at 12-16%, but the fatality rate of crises declined from 42% to 6%, and the overall mortality of myasthenia declined from 12% to 3.3%. Most crisis episodes were caused by aspiration pneumonia or occurred in patients with severe dysphagia, who were at risk of aspiration. Cholinergic drug therapy clearly was not useful during crisis, and should probably be discontinued while the patient is on a respirator. Fifteen of 28 patients with thymectomy had 21 episodes of crisis months or years after surgery. Ultimately, 42% of crisis survivors achieved a state of improved myasthenia or remission after one or more crises.
 ...
PMID:Aspects of the natural history of myasthenia gravis: crisis and death. 695 91

Myasthenia gravis is an illness of insidious onset whose first manifestation often is dysphagia. We report the case of a 25 year-old woman who consulted for nosebleed. On her first visit she referred progressive dysphagia, but the results of endoscopic digestive examination and indirect laryngoscopy were normal. The condition evolved until the appearance of weakness of the extremities suggested myasthenia. Myasthenia gravis was diagnosed by means of electromyography and determinations of antibodies against acetylcholine receptors. We reviewed the literature on the clinical manifestations, diagnostic procedures, and treatment of this condition. This case highlights the importance of suspecting myasthenia gravis in young women with dysphagia and a family or personal history of autoimmune disease in order to reach an early diagnosis and treatment.
 ...
PMID:[ORL manifestations of myasthenia gravis]. 1114 95

In a 67-year-old woman with ptosis, double vision, dysphagia, ambiguous Tensilon tests, normal acetylcholine-receptor antibodies, normal thymus, and repeatedly abnormal responses to low-frequency repetitive stimulation, ocular myasthenia was suspected. Pyridostigmin was ineffective, but corticosteroids improved the abnormalities. Despite this therapy, lower-limb weakness developed. Reevaluation disclosed abnormal increase of serum lactate during slight exercise, myogenic electromyography, ragged-red fibers, reduced oxidative enzyme staining and abnormally shaped and structured mitochondria on muscle biopsy, and a respiratory chain complex-I defect on biochemical investigation of the muscle homogenate. Respiratory chain disorder due to complex-I defect with abnormal decremental response to low-frequency repetitive stimulation was diagnosed. It is concluded that respiratory chain disorders due to a complex-I defect may mimic ocular myasthenia clinically, electrophysiologically, and even therapeutically.
 ...
PMID:Respiratory chain complex-I defect mimicking myasthenia. 1189 8

This report describes a female patient with myasthenia gravis who developed respiratory failure due to vocal cord paresis. The diagnosis was delayed due to the absence of other myasthenic symptoms (e.g. ptosis, muscle weakness and dysphagia). On direct laryngoscopy, her vocal cords were seen to be in the paramedian position and to move apart after the intravenous injection of edrophonium. The patient initially presented with ocular myasthenia and later returned with isolated respiratory failure. A review of the pertinent literature revealed few reports on myasthenia gravis presenting in this manner.
 ...
PMID:Respiratory failure due to vocal cord paresis in myasthenia gravis. 1209 77

Histomorphologic evaluation of the pharyngoesophageal sphincter (pes) in the decreased persons aged 11-82 was done. These persons, in the lifetime, never suffered from: a) neurologic diseases (among others-myasthenia, progressive muscle atrophy), b) neoplasm of the esophagus, c) dysphagia. The aim of the report was the explanation whether the degenerative changes in pes, seen in the course of ageing, should be included into the risk factors of the high pressure occuring in its area after total laryngectomy. The analysis of the histopathological specimens revealed that after 40 years of age connective tissue in the pes is spreading and the number of muscular fibers is decreasing. Till 60 years of age the degenerative process in pes is very differentiated. Some histopathological specimens, in persons of this age section, didn't differ much from those seen in young cases. In the following decades o life degenerative process intensifies successively. In the histopathological specimens intensive proliferation of the fibrotic and fat tissue was found and considerable decrease of muscular fiber number. The investigations on risk factors of high pressure in the area of pes (results made know in paper given for print) revealed that in elder patients after total laryngectomy, its values are higher than in young ones. In patients till 55 years of age, in 72.29% (n = 26/36) of examined cases, the pressure in the pes area didn't exceed 3.99 kPa (30 mmHg). In the age of 55 years and above such a pressure was observed only 39.1% (n = 18/46) of examined. Degenerative changes in pes, depending on age, can be in part of patients (particularly in elder ones) one of the risk factors of the high pressure in the pes area, which should be taken in account in prognosis of esophageal speech mastering by the patient.
 ...
PMID:[Histomorphology of the pharyngoesophageal sphincter as prognostic factor of developing esophageal speech]. 1458 96

In summary, the management of oropharyngeal dysphagia often involves a polydisciplinary evaluation, the aims of which are to identify and characterize oropharyngeal dysphagia as well as identify the underlying cause whenever possible. A specific diagnosis of the underlying cause of neurogenic dysphagia is rarely made on the basis of videoradiographic or manometric observations because observed patterns of oral, laryngeal, pharyngeal and cricopharyngeal dysfunction can exist in a range of neurogenic disorders. Finding the underlying cause of oropharyngeal dysphagia often requires the clinical team to think broadly, owing to the wide array of diagnostic possibilities. Special emphasis should be placed on detecting treatable underlying systemic conditions such as thyrotoxicosis, myopathy, myasthenia, and neoplasms. While seeking evidence for a systemic disorder, the second aim of clinical evaluation is to identify surgically (or endoscopically) treatable structural abnormalities. Careful radiographic and/or endoscopic examination of the oropharynx and proximal esophagus is aimed at detecting signs of neoplasm, infection, strictures, or diverticuli, each of which implies a specific therapy. After important etiologic abnormalities have been sought, functional abnormalities of the oropharyngeal swallow should be defined. Characterization of the temporal disruption of the swallow coordination and identification of the underlying mechanism leading to that dysfunction requires a videofluoroscopic or cineradiographic examination. In some instances, especially with suspected UES dysfunction, concurrent use of pharyngeal manometry with videofluoroscopy can allow further delineation of the underlying pathology and direct treatment. From this point onwards, management decisions will be applicable to those patients in whom a structural surgically treatable abnormality has been excluded. When considering further treatment strategies, the clinician must first establish whether institution of non-oral (e.g. gastrostomy) feeding is indicated. This will depend on establishing the likelihood that the patient will be able to sustain adequate nutrition safely via the oral route and on the unproven, but reasonable, premise that non-oral feeding is likely to reduce the risk of aspiration pneumonia. This decision is made in conjunction with the speech language pathologist who can, on the basis of videofluoroscopic analysis of therapeutic maneuvers, estimate the likelihood that such maneuvers will reduce the risks of oral feeding and enhance the efficiency of the swallow. The natural history and prognosis of the underlying cause for dysphagia, as well as the patient's cognitive ability, will also influence the choice between oral and non-oral feeding. Introduction of appropriate dietary modification and specific swallow therapy by the speech language pathologist is appropriate at this point. The choices among therapies will be directed by the videofluoroscopic findings and the individual patient's ability to comprehend and cooperate with the various strategies. This process will frequently involve a subsequent videofluoroscopic examination to assess progress and the advisability of ongoing swallow therapy and ascertain whether alternatives should be considered. The place of cricopharyngeal myotomy, and other procedures such as laryngeal suspension, in this class of patient remains controversial. The clinician can predict an overall response rate from myotomy of around 60%, but, at present, cannot predict the likelihood of response in an individual patient with certainty. Until further well designed studies in clearly defined subsets of patients are conducted, the decision about myotomy will remain empirical after informing the patient of the risk and possible, but unproven, benefit.
 ...
PMID:Conferencia magistral oropharyngeal disorders: diagnosis and treatment. 1514 91


1 2 3 Next >>