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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An Italian male aged 50 years with oculopharyngeal muscular dystrophy is reported. Eleven of his relatives, over a period of three generations, had ptosis, dysphagia, nasal voice and difficulty in walking. The distribution of muscle weakness in the propositus and in one of his sisters was proximal in the upper, but distal in the lower limbs, confirming the existence of a relationship between oculopharyngeal dystrophy and distal myopathy. The first muscle biopsy appeared normal except for some round-cell collections, whereas the second one, 5 years later, showed marked dystrophic changes. Some patients with oculopharyngeal dystrophy may apparently pass through a secondary muscular inflammatory stage.
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PMID:Familial oculopharyngeal muscular dystrophy with distal spread. 619 73

This paper reports the findings in a 32-year-old man who presented in adult life with a myasthenic syndrome characterized by dysphagia, dysphonia, fluctuating ptosis, episodic diplopia and a variable weakness of the limbs and trunk. Electromyography showed a small decremental response, increased neuromuscular jitter and blocking of some components. Histochemical and electron microscopic studies revealed changes in end-plate morphology and prominent tubular aggregations within the muscle fibres. Radiochemical investigations using di-iodinated 125I-alpha-bungarotoxin demonstrated a reduction in the number of AChR and alterations in receptor affinity which suggested an abnormality of the AChR macromolecule.
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PMID:Alterations in the number and affinity of junctional acetylcholine receptors in a myopathy with tubular aggregates. A newly recognized receptor defect. 626 5

A family from eastern Switzerland with oculopharyngeal muscle dystrophy is described. The history shows seven affected persons in three generations. The inheritance pattern is autosomal dominant with complete penetrance. Bilateral ptosis and dysphagia, the hallmarks of the disorder, appear in the fourth decade and progess slowly. The late stage is characterized by ptosis, causing reclination of the head and marked upright posture. Dysphagia may be disabling, causing starvation, or, as in the index case, death by aspiration pneumonia. Surgical procedures are available to correct the ptosis and alleviate dysphagia.
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PMID:[Oculopharyngeal muscular dystrophy]. 647 19

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

Distal limb myopathy with onset at 30 years, followed by the development of progressive ptosis, external ophthalmoplegia, and pharyngeal myopathy was observed in a 37-year-old Melanesian man from the Gulf Province of Papua New Guinea. Ptosis and external ophthalmoplegia without apparent distal muscle involvement or dysphagia with onset at 35 and 25 years of age, respectively, were noted in the patient's 44- and 27-year-old sisters. Autosomal recessive inheritance appears to be likely in this family. This myopathic syndrome has not previously been reported in Melanesians.
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PMID:Oculopharyngeal and distal myopathy: a case study from Papua New Guinea. 672 Jul 43

Poisonings due to Viperidae bites are quite common in our country. There is a mortality of 3 to 7 cases out of 35 million inhabitants and a variable morbidity which increases in some years. From 1965 to 1980, about 125 cases of bites by Vipers latasti, 80 by V. aspis and 23 by V. seoanei received treatment. Fifty per cent of the cases received small doses of venom and presented proteolytic and coagulant reactions. With stronger doses the reactions were anticoagulant and hemolytic. Two cases affected by bites of V. aspis developed a neurotoxic syndrome with ptosis, dysphagia, dysphasia and paralysis of the bitten extremity. The specific treatment in the severe and moderate cases has been Pasteur and Zagreb antivenom.
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PMID:Clinical aspects of bites by viper in Spain. 708 48

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

It is well recognized that food contamination can result in botulism either from ingestion of performed toxin, in classical botulism, or through absorption of toxin from bacteria within the gut, in infant botulism. Botulism due to contamination of wounds with Clostridium botulinum is not commonly recognized. We report a case of wound botulism occurring in an eight-year-old boy, characterized by early ptosis, dysphagia and dysarthria and then followed by progressive generalized paralysis and fixed dilated pupils, but with intact sensorium. Management consisted of early wound debridement and prolonged intensive respiratory and nutritional support. Recovery was complete.
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PMID:Wound botulism. 742 26

We reported a unique case of myasthenia gravis in association with tuberculous mediastinal lymphadenitis. A 56-year-old man suffering from generalized myasthenia gravis underwent thymothymectomy followed by good clinical recovery for 2 years. Thereafter, the patient complained of acute onset of ptosis, diplopia, dysphagia and limb weakness with elevated titers of serum anti-acetylcholine receptor antibody. CT scans of the chest showed a mediastinal lymphadenopathy and the Thallium-201 SPECT revealed an abnormal mediastinal accumulation, suggesting recurrence of thymoma in the mediastinal lymphonode. Histologically, the re-operated mediastinal tumor was of tuberculous lymphadenitis. This patient gives us a caution that we must guard against errors in differentiation between thymoma and tuberculous mediastinal lymphadenitis, particularly when myasthenic patients with mediastinal tumors are expected to receive the corticosteroids therapy. (120 words).
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PMID:[Acute deterioration of myasthenia gravis in association with tuberculous mediastinal lymphadenitis, simulating recurrence of thymoma. A case report]. 761 72

Oculopharyngodistal myopathy is characterized by the adult onset of ptosis, external ophthalmoplegia, dysphagia, and distal weakness. Although dysphagia is common, other gastrointestinal involvement has not been described. We report a case with childhood onset who developed chronic intestinal pseudo-obstruction. Other myopathies associated with ophthalmoplegia and intestinal pseudo-obstruction such as mitochondrial cytopathies were excluded. Whether oculopharyngodistal myopathy is a variant of oculopharyngeal muscular dystrophy or a distinct neuromuscular disorder is unknown and requires further study.
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PMID:Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction. 763 Mar 44


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