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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

Twenty-four Bouviers with dysphagia were examined between October 1986 and October 1988. The type of dysphagia was characterised by the results from the clinical examination, the videofluorographic examination and the electromyographic recordings from the oral, pharyngeal, and esophageal muscles. Electromyography indicated neurogenic as well as myogenic causes of dysphagia. Tissues from 10 dogs were available for histopathologic examination. In nine dogs there was a progressive muscular degeneration of the pharyngeal and/or esophageal muscles, resembling muscular dystrophy. In two of these dogs the same abnormalities were also noticed in the masseter and temporalis muscles and in the intrinsic laryngeal muscles. In one dog small areas with hyalin degeneration and fragmentation of muscle fibres were found in the cricopharyngeal muscle. No abnormalities in nerve tissue were found. Muscular dystrophy is a hereditary disease. The mode of transmission in these Bouviers is not yet known.
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PMID:Dysphagia in Bouviers associated with muscular dystrophy; evaluation of 24 cases. 188 92

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

A rare case of progressive bilateral ptosis with dysphagia in a 70-year-old man is presented. There were similar symptoms in other members of the family. The patient was diagnosed as having oculopharyngeal muscular dystrophy, a rare autosomal dominant disorder involving progressive muscular dystrophy, one of the chronic external ophthalmoplegic syndromes. There had been slowly progressive bilateral ptosis and there was almost no levator palpebra muscular activity left, resulting in extreme head tilt. A sling suspension operation for the ptotic lids, using autogenous fascia lata, was successful. Oculopharyngeal muscular dystrophy is essentially a myogenic disorder. Affected muscles are usually those of the pharynx, causing dysphagia, and the levator palpebra muscles. Rarely are other skeletal muscles involved. The sling operation gives direct support to the dystrophic malfunctioning levator muscles by using the frontalis muscles to raise the ptotic lids, thus improving visual ability.
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PMID:[Oculopharyngeal muscular dystrophy]. 238 59

A mature female Rhodesian Ridgeback was determined to have a progressive, degenerative myopathy associated with myotonia, dysphagia, and marked muscle wasting. Clinical findings revealed a diffuse muscular disease with percussion dimpling, dysphagia, and creatine kinase elevation. A paroxysmal atrial tachycardia was found. Electromyography revealed a diffuse myopathy with high-frequency bizarre waves, myotonic discharges especially in the masticatory, laryngeal, and pharyngeal muscles. A few positive sharp waves were found in some of the appendicular muscles. Histopathologic and histochemical stains on skeletal muscle biopsy specimens demonstrated moderate fiber-size variation, myofiber architectural changes, muscle-fiber splitting, focal necrosis and phagocytosis, high percentage of internal nuclei, and atrophy of type-2 muscle fibers. A review of myotonic myopathies in the dog is presented. The clinical, electrophysiologic, and histochemical findings are similar to those for myotonic muscular dystrophy in man.
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PMID:Myotonic dystrophy-like disease in a dog. 397 11

Oculopharyngeal muscular dystrophy is a localized or restricted variety of muscular dystrophy, characterized by bilateral ptosis, myopathic facies, external ophthalmoplegia and dysphagia. A patient with this unusual myopathy is described and detailed esophageal motility studies are presented that provide conclusive evidence of both striated and smooth muscle involvement.Because these unusual localized forms of muscular dystrophy exist and may be of late onset, previous rigid concepts concerning the dystrophies should be discarded.
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PMID:Late-onset muscle dystrophy: oculopharyngoesophageal variety. 594 Mar 25

A family is presented in which 12 members over 3 generations have been affected by oculopharyngeal dystrophy. The clinical features of 7 affected members are described. All developed ptosis in middle age and dysphagia later in the clinical course. Four had mild bilateral facial weakness and mild proximal weakness. Extra-ocular movements were normal in all. A deltoid muscle biopsy from a 71-year-old affected male showed nonspecific myopathic features (random variation in muscle fibre size and atrophy of type 2A and 2B fibres). The skeletal muscles and striated musculature of the pharynx and upper oesophagus of a 75-year-old affected female examined at postmortem showed histological myopathic changes (loss of muscle fibres, variation in size of fibres with scattered small angular and rounded 'giant' muscle fibres, proliferation and central migration of sarcolemmal nuclei, increase in fat and fibrous tissue and occasional fibres undergoing segmental degeneration). This appearance was consistent with a muscular dystrophy of chronic type. Detailed neuropathological examination of the brain stem nuclei was normal. The spinal cord showed an unusual hydromyelia affecting C7 to T4 segments.
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PMID:Oculopharyngeal dystrophy: clinicopathological study of an Australian family. 656 18

An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65. Dysphagia and dysarthria occurred soon thereafter. At age 78, impairment of gait developed and progressive wasting occurred in the limbs with an initial distal distribution. Electromyography of several limb muscles displayed a mixed myopathic and neurogenic pattern with giant potentials. Examination at autopsy revealed slight loss of neurons in the anterior horns of the spinal cord, with scanty ghost cells, neuronophagia, and central chromatolysis. By light microscopy the limb muscles showed moderate small-group atrophy with severe myopathy and target fibers. The viscerocranial muscles, including the ocular, vocal, and tongue muscles, demonstrated only myopathic change with the typical features of progressive muscular dystrophy. Advanced replacement by fibrous connective tissue and fat had occurred in both the viscerocranial and the lower limb muscles. The significance of neurogenic involvement in OPMD is discussed.
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PMID:An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. 725 32

The oculopharyngeal syndrome (OPS) is a rare variant of muscular dystrophy characterized by progressive ptosis and dysphagia. Previous esophageal motility studies in OPS have yielded conflicting results because of low-fidelity esophageal recording systems. Although cricopharyngeal myotomy improves symptoms, accurate postoperative manometric findings have not been reported. Using a low-compliance, high-fidelity system and a radially oriented esophageal motility catheter in an OPS patient we found a hypertonic upper esophageal sphincter (UES), a hypotonic proximal esophagus, and elevated pressures in the distal two-thirds with prolonged duration of contraction. Clinical improvement followed myotomy. We also found a similar manometric pattern but a normotensive UES in an asymptomatic sibling.
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PMID:Hypertonic upper esophageal sphincter in the oculopharyngeal syndrome. 734 59

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


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