Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Kearns-Sayre syndrome is combined with a progressive external ophthalmoplegia (PEO), retinal pigmentary degeneration and heart block. In some patients, progression of incomplete forms has been described and potentially fatal conduction disturbances may occur. The disease is considered as a systemic mitochondrial disorder. As part of an ongoing prospective study 6 patients (3 female, 3 male; age 32 +/- 9 years) with PEO and typical ultrastructural changes of a mitochondrial myopathy in their skeletal muscle were examined. The ECG disclosed atrio/intraventricular conduction defects in 5 patients: 1 patient had a third degree AV block which was treated by a pacemaker. Another patient had left anterior fascicular block with complete right bundle branch block. In 3 other patients an incomplete right bundle branch block was registered. In 1 patient, His-bundle electrography disclosed a block distal to His by atrial high rate pacing before and after i.v. injection of ajmaline; prophylactically a pacemaker was implanted. The mean HV-interval increased significantly under ajmaline by 44% in patients with sinus rhythm. Hemodynamic studies were normal in 5 patients at rest; only 1 patient was abnormal during exercise. Myocardial biopsy demonstrated mitochondrial abnormalities such as variability in shape and size. In 4 patients concentric cristae mitochondriales were seen. Our results suggest that atrioventricular conduction defects are common in patients with PEO. By means of endomyocardial catheterbiopsy a mitochondrial cardiomyopathy could be detected.
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PMID:[Heart involvement in progressive external ophthalmoplegia (Kearns-Sayre syndrome): electrophysiologic, hemodynamic and morphologic findings]. 370 87

The Kearns-Sayre syndrome is an uncommon disease, characterized by the triad of external ophthalmoplegia, retinitis pigmentosa, and heart block. Cardiac manifestations of this syndrome in a 31-year-old man are presented. Electrocardiogram revealed intermittent left bundle branch block and right bundle branch block with left anterior hemiblock. His bundle recording disclosed a prolonged HV interval. Clinical features of the syndrome are discussed and other published cases reviewed.
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PMID:Conduction disturbances in the Kearns-Sayre syndrome. 376 90

We report a clinical case with chronic progressive external ophthalmoplegia, retinal pigmentation and left anterior hemiblock (Kearns-Sayre Syndrome) associated with mitral valve prolapse. The mitral valve prolapse is present in familiar neuromuscular diseases. We think that mitral valve prolapse is expression of diffuse metabolic process of muscular heart in Kearns-Sayre Syndrome.
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PMID:[Kearns-Sayre syndrome and mitral valve prolapse. Description of a clinical case]. 383 1

Three of 11 children, offspring of a consanguineous marriage, presented a progressive myopathy and seizures, associated with symptoms suggesting both central and peripheral nervous system involvement. The ultrastructural muscular lesions were not specific. The association of severe impairment of muscle tissue and of central nervous system is rare, being described in centronuclear myopathy, cerebromuscular dystrophy, Kearns-Sayre syndrome and in a few isolated cases. Clinically only these isolated observations and especially the Kearns-Sayre syndrome demonstrate analogies to our observations. These data lead us to the discussion of the specificity of ultrastructural lesions, especially mitochondrial abnormalities. Some authors consider these abnormalities to be the biochemical hallmark for ophthalmoplegia plus, whereas for others, especially Drachman, they are an inconstant and nonspecific finding, merely the consequence and not the cause of this disease. These observations argue for the relationship between muscular pathology and nervous system dysfunction.
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PMID:[An autosomal recessive syndrome with myopathy and central and peripheral nervous system involvement (author's transl)]. 645 71

The ultrastructural finding of abnormal muscle mitochondria has been reported in various conditions, but mostly in association with the clinical picture of ophthalmoplegia, and in cases of "floppy infant" syndrome. In the case herein reported, the mitochondrial abnormalities were found in the muscle biopsy of a 49-year-old man suffering from a late onset proximal myopathy; he was affected also by polyneuropathy, subclinical thyroid dysfunction, disturbances of heart conduction, and unilateral gynaecomastia. The association of abnormal muscle mitochondria and late onset myopathy without involvement of the extraocular muscles has been reported in a very few cases. It is not possible, at present, to state that these cases represent a nosological entity; the existence of an underlying biochemical defect, accounting for the mitochondrial abnormalities, could be suspected, but it seems more probable that these changes are non-specific features of muscular damage, possibly related to the stage and the degree of the process. In this view, the coexistence of neurogenic damage, gastrointestinal malabsorption, and thyroid dysfunction, could play an additional role in the case herein described. Finally, the coexisting findings of cardiac, endocrine, and neuropathic damage are discussed with regard to the Kearns-Sayre syndrome, which also associates mitochondrial myopathy and multisystemic involvement.
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PMID:[Late myopathy with mitochondrial changes in the muscle]. 645 35

A clinical, electrophysiological and pathological review of 14 patients having oculoskeletal myopathy with abnormal mitochondria was undertaken. These patients present with ophthalmoplegia, and mild skeletal muscle weakness. The clinical course is slowly progressive. Electromyographic examination shows myopathic changes. Serum enzymes are normal. The diagnosis is confirmed by skeletal muscle biopsy which shows abnormal mitochondria, including crystalloid inclusions on electron microscopy. These patients form a distinct clinical group in which the risk of sudden cardiac death is much less than it is in the Kearns-Sayre syndrome.
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PMID:Oculoskeletal myopathy with abnormal mitochondria. 646 92

Eleven patients suffering from chronic progressive external ophthalmoplegia (CPEO) were examined by means of electroretinography (ERG) and the visually evoked cortical potential (VECP) with flash and checkerboard-reversal stimuli. One patient exhibited a Kearns-Sayre syndrome, and in two patients fundoscopy revealed pigmentary retinopathy; the fundi of the other 8 patients were normal. In 3 of the patients with pigmentary retinopathy the ERG was slightly disturbed or normal, the P100 latency in the VECP being normal. In three out of 8 patients without retinal pigmentary changes the ERG indicated retinopathy. In 2 cases this was the only finding offering an explanation for the reduced visual acuity. One patient exhibited a considerably prolonged P100 latency in the pattern-reversal VECP of one eye, which might have been indicative of lesions of the visual pathway associated with CPEO.
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PMID:[ERG and VECP in chronic progressive external ophthalmoplegia]. 648 92

Kearns-Sayre syndrome was diagnosed in a 40-year-old female patient admitted for evaluation of symptomatic bradycardia. In addition to the classic triad--external ophthalmoplegia, pigmentary retinopathy, and heart block--she also had secondary amenorrhea, hearing loss, diabetes, and increased concentrations of blood lactate and pyruvate as manifestations of this multisystem disease. The echocardiographic examination disclosed asymmetric septal hypertrophy with a septal diastolic thickness of 17 mm and a septum to free wall ratio of 1.5. The left ventricular size and function were normal. Thus, asymmetric septal hypertrophy may represent subclinical heart muscle involvement in Kearns-Sayre syndrome.
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PMID:Asymmetric septal hypertrophy in Kearns-Sayre syndrome. 654 86

Five patients with mitochondrial myopathy are discussed. Two presented with progressive external ophthalmoplegia (CPEO), one with CPEO and retinitis pigmentosa, and two with Kearns-Sayre syndrome. Ragged red fibres and intra-mitochondrial paracrystalline inclusions were found in each case. The clinical heterogeneity of the mitochondrial myopathy syndrome in the presence of identical pathological changes in skeletal muscle is emphasised.
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PMID:Clinical features of mitochondrial myopathy. 658 Aug 59

A case of mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, cerebellar ataxia and high-tone hearing loss is presented. There was no ptosis or ophthalmoplegia. Endocrine investigations showed a defect in hypothalamic function which was a likely cause of infertility. The case is compared with previously reported examples of mitochondrial myopathy with myoclonic epilepsy, and contrasted with the Kearns-Sayre syndrome. It is concluded that mitochondrial myopathy, myoclonic epilepsy and ataxia may be distinguishing features of a specific familial disease, which on presentation may mimic the Ramsay-Hung syndrome.
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PMID:Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome? 678 98


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