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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twenty-five patients with oropharyngeal dysphagia due to a variety of disorders (4 with muscular dystrophy, 4 with myasthenia gravis and 13 with inflammatory myopathies) were studied clinically by esophageal manometry and isotopic clearance. Clinically patients had moderate dysphagia and 45% other symptoms such as nasal regurgitation, bronchial aspiration, etc. The most important manometric abnormality was the feeble contractions of the pharyngeal musculature, more pronounced in patients with severe dysphagia (grade II). Isotopic clearance of the oropharynx showed slowing of the pharyngeal emptying curve and an increased residual activity in this area. Isotopic oropharyngeal clearance is a useful, comfortable and noninvasive test for determining the clinical improvement which accompanies the manometric recovery of the pharyngeal muscular contraction.
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PMID:[Oropharyngeal dysphagia due to a primary change in the pharyngeal musculature. A manometric and isotopic study]. 166 Nov 17

Oculpharyngeal muscular dystrophy is an autosomal dominant inherited condition seen mainly in patients of French Canadian origin. Fifteen patients with an established diagnosis of the disease were evaluated clinically, manometrically and radiologically before and after cricopharyngeal myotomy. All patients presented with oropharyngeal dysphagia to solids and liquids, pharyngooral and pharyngonasal regurgitation, frequent aspiration at mealtime and chronic aspiration of saliva during the night. When compared with a control group, significant differences were observed in the pressure, duration and frequency of pharyngeal contraction. Cricopharyngeal myotomy did not alter pharyngeal function. At the level of the upper esophageal sphincter, resting and contraction pressure relaxation, relaxation time and coordination were examined. Relaxation time was the only significant abnormality observed between patients with oculopharyngeal muscular dystrophy and control subjects. Surgery significantly lowered the resting and contracting pressures of the sphincter. Relaxation time was brought toward normal. All patients' symptoms were significantly improved by cricopharyngeal myotomy.
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PMID:Surgery in oculopharyngeal muscular dystrophy. 735 Aug 44

A case of muscular dystrophy in a 1-year-old male castrated Domestic Shorthair cat is presented. The most striking clinical features were regurgitation, a stiff gait, an increased muscle tone and exercise intolerance. Serum biochemistry panels showed a marked increase in the muscle specific enzyme creatine kinase, and moderately elevated levels of LDH, AST and ALT. Spontaneous electrical activity of skeletal muscles in the form of "bizarre high frequency discharges" and "myotonia-like repetitive discharges" were registered. Gross pathology revealed a marked hypertrophy of the skeletal muscles. The main histopathological changes were myofiber necrosis and calcification, variation in fiber size, hypertrophied muscle fibers of type I and type II and fiber splitting. Indirect immunofluorescence showed dystrophin deficiency. Feline muscular dystrophy resembles the X-linked human Duchenne muscular dystrophy (DMD). Besides the X-linked muscular dystrophy in the mouse and Golden Retriever the feline muscular dystrophy could represent another valuable animal model for the study of DMD.
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PMID:[Muscular dystrophy in a cat]. 824 6

The purpose of this study is to clarify a correlation between the esophageal dysfunction and suffocation after meals in patients with myotonic dystrophy (MD) and to find how to prevent such accidents. Using imaging methods, we examined eight patients with MD (six of them had difficulty in swallowing), four patients with other neuromuscular diseases (Fukuyama-type congenital muscular dystrophy, congenital myopathy, Machado-Joseph disease, and Duchenne's muscular dystrophy), and two healthy control subjects. We also investigated material from an autopsy of another patient with MD who died of suffocation. In all patients with MD, fluoroscopy and computed tomography showed dilatation of the esophagus, particularly in the proximal third, and residual contrast media in the esophagus 15 to 40 minutes after swallowing. In histologic studies, morphologic changes were confined to the esophageal striated muscle in a patient with MD. These results indicate that regurgitation from the esophagus to the trachea happens more than 40 minutes after swallowing in patients with MD and that histological alterations of striated muscle are primary causes of the esophageal dysfunction. From these findings, we propose that patients with MD should not lie down at least 40 minutes after meals whether they complain of difficulty in swallowing or not.
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PMID:[Imaging and pathological studies on the esophageal dysfunction in patients with myotonic dystrophy]. 875 84

Oropharyngeal dysphagia is not a single disease but a symptom complex that is recognized by difficulty in transfer of a food bolus from mouth to esophagus or by signs and symptoms of aspiration pneumonia or nasal regurgitation. Its etiologies are legion, with the most common result of underlying neuromuscular disease, including cerebrovascular accidents, Parkinson's disease, multiple sclerosis, and muscular dystrophy. There are two methods of treatment for oropharyngeal dysphagia; one is specific and directed at the underlying disease and the other is general (supportive) and designed to preserve oral intake for nutrition while preventing aspiration pneumonia. Following a general discussion of the etiology and clinical presentation of orophyarngeal dysphagia, a description of the methods for supportive care is presented as well as the approach to the treatment of cricopharyngeal dysfunction and Zenker's diverticulum.
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PMID:Oropharyngeal dysphagia. 1600 27

A 2-year-old, male Weimaraner with muscular dystrophy was presented with generalized muscle atrophy of the limbs; hypertrophy of the neck, infraspinatus, and lingual muscles; dysphagia; and regurgitation. Unilateral cryptorchidism, unilateral renal agenesis, and hiatal hernia were also detected. Spontaneous muscle activity was identified on myography. Serum creatine kinase was markedly elevated. Immunohistochemical staining for dystrophin was restricted to suspected revertant (characteristics of immaturity) fibers. Histologically, skeletal myofiber degeneration, endomysial fibrosis, and mineralization were present. Following euthanasia, necropsy revealed hypertrophy of the diaphragm and cardiac muscle fibrosis. This case of muscular dystrophy represents a slowly progressive form with organ agenesis.
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PMID:Dystrophin-deficient muscular dystrophy in a Weimaraner. 1761 4

Facioscapulohumeral muscular dystrophy (FSHD) is not a recognized neuromuscular cause of dysphagia. However, a study of pharyngoesophageal function in FSHD has not been performed or reported. The aim of this study was to ascertain by relatively noninvasive techniques whether the dystrophic muscle disease that underlies FSHD involves the pharyngeal and/or the esophageal striated and smooth muscles. We used conventional cineradiography and intraluminal esophageal manometry on separate occasions to study pharyngeal and esophageal function in 20 patients with FSHD at various stages of disease, with or without complaints of deglutition. Age- and sex-matched control data were used for comparison of the manometric component of the study. Twelve men and eight women with FSHD were studied. The mean patient age was 38.1 years (41.9 years for controls), and the age range was 19-61 years (22-55 years for controls). The mean disease duration was 16.7 years (range = 4-39 years).Five patients admitted to having intermittent oropharyngeal dysphagia (difficulty to initiate swallowing, cough after swallowing, sensation of food stuck in throat, or nasal regurgitation), and three patients admitted to intermittent esophageal dysphagia (difficulty swallowing both liquids and solids). Chest roentgengrams showed a hiatal hernia in four patients, but no active cardiopulmonary disease. Abnormal instrumental results were documented in eight patients: Cineradiography detected ineffectual pharyngeal contractions (2 patients), pharyngeal diverticula but normal pharyngeal motility (2 patients), and decreased cricopharyngeal and upper esophageal relaxation (2 patients). The mean manometric pressure of the patient group was not significantly different from the control data. However, manometry detected motility abnormalities that were not reflected in the mean data and included increased lower esophageal sphincter resting pressure with normal or abnormal relaxation (2 patients) and inconsistent, high-amplitude, long-duration, primary peristaltic contractions (1 patient). Patients with FSHD did not spontaneously volunteer intermittent complaints of deglutition. This study did not definitely establish that the cause of abnormal pharyngeal and cervical esophageal function was related to the dystrophic process that underlies FSHD. Any esophageal dysmotility was nonspecific and insignificant and was caused by an undetermined, probably neuropathic, process unrelated to the muscular dystrophy.
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PMID:Facioscapulohumeral muscular dystrophy: a radiologic and manometric study of the pharynx and esophagus. 1825 5

Two cases of dystrophin-deficient muscular dystrophy in 16-week-old male lurcher siblings are reported. The myopathies were characterised by regurgitation, progressive weakness and muscle wastage. The dogs had generalised weakness in all four limbs, with more pronounced weakness in the pelvic limbs. Reduced withdrawal in all limbs, muscle contracture and lingual hypertrophy were noted. Serum creatine kinase activities were markedly elevated. Electromyographic abnormalities included fibrillation potentials. Histopathological and immunohistochemical staining were consistent with dystrophin-deficient muscular dystrophy. Clinical improvement was noted in one of the cases with L-carnitine supplementation and supportive therapy. Genetic transmission of the disease was postulated as the dogs were siblings.
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PMID:Dystrophin-deficient muscular dystrophy in two lurcher siblings. 2562 40