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)

Oculopharyngeal muscular dystrophy is an inherited disorder, usually autosomal dominant, which typically becomes symptomatic during the fifth decade of life with slowly progressive ptosis and dysphagia; childhood onset has not been reported. A 13-year-old female of French-Canadian descent developed nasal speech and strabismus at 5 years of age; there was no family history of neuromuscular disease. Ptosis and mild facial and proximal muscle weakness were present by 9 years of age. Over the next 4 years, the patient developed dysphagia, palatal paralysis, weight loss, decreased ocular motility, scoliosis, shortness of breath, and obstructive apnea. Tracheostomy and gastrostomy were required. Creatine kinase and repetitive facial nerve stimulation were normal. Edrophonium testing was negative and electromyography revealed myopathic motor units in the iliopsoas muscle. A preponderance of type I fibers and scattered atrophic and angulated muscle fibers were present in 3 muscle biopsies. The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.
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PMID:Childhood onset oculopharyngeal muscular dystrophy. 176 43

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

A case of myasthenia gravis accompanied with polymyositis and malignant thymoma, detected immune complexes in the sera and around the muscle fibers, was described. A 37-year-old woman was admitted to Shinshu University Hospital in September, 1987 because of dyspnea, dysphagia and muscle weakness. She first noticed her right blepharoptosis 3 weeks before admission. Weakness of all four limbs and myalgia of lower extremities were noticed one week later. These symptoms got worse and nocturnal dyspnea, dysphagia and easy fatigability at mastication appeared. On admission, she looked ill and neurological examination revealed left blepharoptosis, bilateral facial weakness, weakness of all four limbs, more prominent in proximal muscles and tenderness of lower extremities. Edrophonium test was positive, improving her muscle weakness. Laboratory examination revealed the elevated serum levels of CK, the increased titre of circulating immune complexes and high titres of acetylcholine receptor antibodies and anti-skeletal muscle antibodies. Electromyographic study showed myogenic pattern and Harvey-Masland test revealed waning at low frequency stimulation. Muscle biopsy showed marked perivascular infiltration of lymphocytes, accompanied by phagocytosis and interstitial fibrosis. IgG deposits were shown around the muscle fibers exclusively around the infiltrates of mononuclear cells. Granular deposits of C3 were also shown specifically around the muscle fibers exclusively around the infiltrates of mononuclear cells. Thymectomy was performed on September 21, 1987. Invasion of thymoma, predominantly lymphocytic type, to right lung and pericardium was observed histologically. After thymectomy, she got better. Immunological data and immunohistochemical examination of the present case suggest that in the case of myasthenia gravis accompanied with polymyositis and malignant thymoma, immune complexes may play a primary role on the pathogenesis of myositis.
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PMID:[Detection of immune complexes in the sera and around the muscle fibers in a case of myasthenia gravis and polymyositis]. 253 18

Victor and his associates coined the term oculopharyngeal muscular dystrophy to describe a clinical syndrome characterised by dysphagia and ptosis. Subsequent authors have traced a large series in French Canadians to a single Quebec isolate and have emphasized that the condition is usually inherited as a dominant trait. In 1974 Fried reported two isolated cases in an Ashkenazi Jewish family of Hungarian extract in whom the condition was recessively inherited. In this paper we report an Irish family from North Cork with typical features of oculopharyngeal muscular dystrophy in whom the inheritance pattern is dominant with incomplete expression. In reporting such cases the ethnic and genetic heterogeneity of oculopharyngeal muscular dystrophy is highlighted. Case Report 1. A 68 year old farmer was admitted for investigation of recurrent chest infections. He complained of a 20 year history of progressive difficulty swallowing, productive cough and impaired vision. On examination he had a gaunt expressionless appearance with bilateral ptosis to mid pupillary level. Both right and left gag reflexes were noted to be reduced and sluggish, and on swallowing fluids were noted to regurgitate through his nostrils. Chest examination revealed the presence of bibasal coarse crepitations suggestive of aspiration. No further physical abnormalities were noted. On investigation, full blood count, urea, and electrolytes, liver function tests, sedimentation rate, thyroid function tests, muscle enzymes (PK, LDH) and electrocardiogram were normal. Chest radiograph confirmed aspiration. Tensilon test was negative. Oesophagoscopy outruled organic obstruction, and confirmed sluggish pharyngeal muscular activity. A clinical diagnosis of oculopharyngeal dystrophy was made on the basis of associated ptosis and dysphagia occurring in the presence of a supportive family history.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Oculopharyngeal muscular dystrophy in an Irish family. 275 12

Thirty-four consecutive patients referred to a gastroenterology clinic with suspected esophageal motility abnormality as a cause of their chest pain or dysphagia, or both, were prospectively studied in an 18-mo period. Peristaltic response to 10 wet (5 ml H2O) swallows was recorded in all studies with a low-compliance infusion system. To provoke symptoms and motility abnormalities after baseline evaluation, all patients had acid infusions (0.1 N HCl) and administration of edrophonium (80 micrograms/kg i.v.), pentagastrin (6 micrograms/kg s.c.), and bethanechol (40 micrograms/kg s.c.). Tracings were coded, read, and interpreted blindly. Baseline tracings were abnormal in 23 of 34 patients (68%), including increased amplitude peristaltic contractions ("nutcracker esophagus") in 10 and nonspecific esophageal motor disorders in 13. Acid infusion produced substernal burning in 3 of 33 patients, in motility change in 1 patient. Edrophonium produced chest pain with manometric changes in 6 of 34 (18%) patients. Pentagastrin produced chest pain with manometric change in 1 patient. Bethanechol produced chest pain with manometric change in 2 patients. One patient with low amplitude had elevation of esophageal baseline and multiple simultaneous contractions but no chest pain (subsequently developed achalasia). It was concluded that (a) abnormal motility is a common finding in a symptomatic group of patients with presumed esophageal motility disorder, (b) the "nutcracker" esophagus is the most frequent defect, and (c) attempted provocation of symptoms with acid or drugs is not generally effective; however, edrophonium is the best tolerated and most effective of currently available drugs.
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PMID:Prospective manometric evaluation with pharmacologic provocation of patients with suspected esophageal motility dysfunction. 683 64

We described a 12-year-old girl with systemic lupus erythematosus (SLE) associated with myasthenia gravis (MG). She had absence seizures from 6 years old. She admitted to our hospital at 12 years of age because of absence seizures and dyspnea. The diagnosis of SLE was made on the basis of convulsion, arthritis, pleurisy, and positive antinuclear factor and was started therapy with prednisolone. The clinical course was complicated by the appearance of dysphagia and hoarseness. On the basis of positive Tensilon test and a high level of serum anti-acetylcholine receptor antibody, we made a diagnosis of the systemic type of MG. Her condition was improved by methylprednisolone pulse therapy and gamma-globulin therapy after plasmapheresis. The association of early-onset SLE with MG is rare.
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PMID:[A childhood case of systemic lupus erythematosus associated with myasthenia gravis]. 929 15

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.
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PMID:Respiratory chain complex-I defect mimicking myasthenia. 1189 8

An 83-year-old woman was admitted to our hospital complaining of respiratory distress. She developed blepharoptosis and dysphagia two months previously. On admission, blood pressure was 150/84 mmHg. There were bilateral blepharoptosis and bulbar palsy. Tendon reflexes were brisk, but pathological reflexes were absent. Repetitive stimulation test demonstrated decrement. Tensilon test was positive. Thus, a diagnosis of myasthenic crisis was made. Vital capacity was 0.71, which necessitated intubation and artificial ventilation. During the first course of immunoadsorption plasmapheresis, blood pressure fell to 80/50 mmHg. ECG showed deeply inverted T waves in leads V2 through V6. Echocardiographic examination demonstrated extensive akinesis around the apex. CK was slightly increased. A diagnosis of "Takotsubo"-shaped cardiomyopathy was made. To maintain blood pressure, dopamine was continuously injected. Left ventricular function returned to normal within a week. No thymoma was seen on the chest CT scan. She was treated with pyridostigmine and tacrolimus. Ten weeks after admission, she was weaned off the ventilator and she had no dysphagia anymore. Anti-acetylcholine receptor antibody titers had decreased. In Japan, approximately 17% of patients with myasthenia gravis are in the seventh decade or older. Approximately 10% of the patients of this age group suffer from severe generalized form. Careful ECG monitoring is necessary while treating elderly patients with myasthenic crisis, because they are at potential risk of developing "Takotsubo"-shaped cardiomyopathy.
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PMID:[A case of transient left ventricular ballooning ("Takotsubo"-shaped cardiomyopathy) developed during plasmapheresis for treatment of myasthenic crisis]. 1523 76

A 54-year-old woman was admitted to our hospital because of diplopia, dysphagia, dropped head, and muscle weakness with easy fatigability. A neurological examination showed bilateral ptosis, ocular motility disorder, dysphagia, and weakness of the neck extensor muscles. Edrophonium and repetitive nerve stimulation tests of the thenar muscles showed positive results. The serum titer of anti-acetylcholine receptor antibody was negative. A thymoma was not detected in her chest CT. Finally, she was diagnosed with anti-MuSK antibody-positive myasthenia gravis based on the high serum titer of anti-MuSK antibody (239 nmol/l). Her symptoms improved after administration of prednisolone. However, the symptoms were aggravated when the prednisolone dosage was reduced, and the titer of anti-MuSK antibody rose at the same time. We evaluated the possible association between changes in the severity of her clinical symptoms and the titer of the antibody during prednisolone therapy. It was revealed that the titer of the antibody was correlated to the severity of clinical symptoms expressed by a QMG (Quantitative Myasthenia Gravis) score. These findings indicate that monitoring the titer of anti-MuSK antibody can be useful for assessing disease activity as well as decision making during treatment.
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PMID:[Titer of anti-muscle-specific receptor tyrosine kinase (MuSK) antibody correlated with symptomatic improvement in response to corticosteroid therapy in a patient with anti-MuSK antibody-positive myasthenia gravis: a case report]. 1763 10

Myasthenia gravis is a rare, chronic, autoimmune disorder characterized by postsynaptic dysfunction at the neuromuscular junction. The disease affects more females than males. We describe the case of a 17-year-old female adolescent with recurrent episodes of dysarthria and dysphagia and a history of aspiration pneumonia. A bedside edrophonium (Tensilon) test in our emergency department confirmed the diagnosis of myasthenia gravis.
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PMID:Myasthenia gravis in an adolescent patient presenting to the pediatric emergency department. 2045 93


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