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)

A patient with Friedreich's disease and chronic progressive external ophthalmoplegia is descirbed. An investigation was performed into the nature of the ocular motor disorders, which appeared clinically to be supranuclear. The EMG of the ocular muscles suggested myopathy. A specimen of ocular muscle was obtained by biopsy and examined with the light microscope and-for the first time-under the electron microscope. Signs of mitochondrial myopathy were found alongside neurogenic features. Postmortem examination of the central nervous system confirmed the diagnosis of Friedreich's disease with lesions of the motor cells in the anterior horn of the spinal cord. No evidence was found for a supranuclear or inernuclear origin of the ocular palsies, but 20-30 per cent of the neutrons in the nuclei III and IV were atrophic. Lesions of the non-medullated motor nerve fibres were also visible under the electron microscope. That the origin of the c. p. e. o. in this heredo-ataxia is neurogenic-nuclear is postulated on the grounds of the neuropathological and electronmicroscopic findings. Resemblances to the microscopic and submicroscopic and submicroscopic appearance of many types of "ocular myopathy" and "ophthalmoplegia-plus" throw doubt upon the myogenic character of these conditions. Possibly chronic, slowly progressive atrophy in the nuclear areas of the ocular motor nerves must in these cases also be held responsible for the c. p. e. o. Perhaps Moebius's Kern-Schwund theory may be revived after 85 years.
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PMID:Chronic progressive external ophthalmoplegia in a heredo-ataxia: neurogenic or myogenic? A clinical, neuropathological and submicroscopic study. 60 73

During a six-year period, an adolescent girl developed a polyglandular disease characterized by hypoparathyroidism, chemical diabetes, growth failure and pubertal delay, hypercholesterolemia, and hypomagnesemia. A slowly progressive neurological disorder occurred simultaneously, consisting of progressive external ophthalmoplegia, mitochondrial myopathy, ataxia, neural deafness, mental subnormality, atypical retinitis, corneal dystrophy, cataract, and increased protein level in the cerebrospinal fluid. An intracardiac conduction defect was also found. This disorder, the cause of which is uncertain, is termed oculocraniosomatic disease. Our patient is apparently unique in that there was an associated hypoparathyroidism.
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PMID:Oculocraniosomatic neuromuscular disease with hypoparathyroidism. 84 67

A frequent occurrence of ophthalmoplegia and muscle fatigability in mitochondrial myopathy (MAM) often makes its differential diagnosis from myasthenia rather difficult. Neuromuscular transmission was investigated in 9 patients with MAM, presenting marked fatigability. The aim of the study was to see whether there were any other causes of muscle fatigability in addition to the metabolic factors. Classical electrostimulation as well as the SFEMG, which is very sensitive in detecting neuromuscular transmission disorders, were used. The findings were far from uniform: we found normal neuromuscular transmission in 5 cases, in 3 patients we observed slight abnormalities of neuromuscular transmission, in 1 case neuromuscular transmission disturbances seemed to be of neurogenic origin. Our results allow an assumption that the causes of muscle fatigability in MAM are of a much more complex nature than it has been anticipated. They might depend not only on the metabolic disorders within the muscle fibre itself but also on the impaired function of the peripheral nerve or of the neuromuscular junction. All the mechanisms combined may also play a role, though in individual patients the contribution of particular factors responsible may vary.
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PMID:Muscular fatigability in mitochondrial myopathies. An electrophysiological study. 131 91

A thirty-two year old female had chronic progressive external ophthalmoplegia (CPEO), exertional fatigue, dysarthria, dysphagia, and bilateral hearing impairment. Histochemical stains, obtained from the right vastus lateralis, showed ragged-red fibers and wide-spread abnormalities in the number, size, and the structure of mitochondria under electronomicroscopic examination. A biochemical analysis showed a low activity of NADH-cytochrome C reductase, NADH dehydrogenase and a normal activity of succinate cytochrome C reductase and cytochrome C oxidase. This data suggests a specific defect in the NADH dehydrogenase of complex I (NADH CoQ reductase). We believe that this is the first biochemically defined mitochondrial myopathy reported in Taiwan and provides additional evidence for the existence of biochemical heterogeneity in mitochondrial disorders of CPEO.
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PMID:Chronic progressive external ophthalmoplegia with NADH-CoQ reductase deficiency: report of a case. 132 93

Mitochondrial myopathies are morphologically characterized by ragged-red fibres (RRF). Serial cross-section revealed that the ragged-red appearance was only focal. This is in agreement with a partial cytochrome c oxidase (COX) deficiency in chronic progressive external ophthalmoplegia (CPEO). Since most of these patients show deletions of the mitochondrial genome single fibre analyses were performed determining COX and succinate dehydrogenase (SDH) in serial muscle sections from two patients with CPEO. High SDH activity was demonstrated in RRF; in contrast COX activity was lower in RRF in a patient, possibly representing a focal assembly of mitochondria with deletions in their genomes. The variation of enzyme activities along the muscle fibre was especially high in RRF. This study presents the first quantitative evidence that enzyme activities vary considerably along fibres in muscle from patients with a mitochondrial myopathy.
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PMID:Enzyme activity analyses along ragged-red and normal single muscle fibres. 133 Sep 95

Kearns-Sayre syndrome (KSS) is a form of mitochondrial myopathy in which specific clinical features, namely progressive external ophthalmoplegia, pigmentary retinal degeneration and cardiac conduction defects, occur. KSS has also been associated with a variety of endocrine and metabolic disorders, in particular short stature, gonadal failure, diabetes mellitus, thyroid disease, hyperaldosteronism, hypomagnesaemia, and bone, tooth and calcification abnormalities. A case is described exhibiting all of these features. A survey of the literature was conducted to determine the prevalence of these conditions among reported cases. Cases with hypoparathyroidism were considered separately to see if they constituted a distinct subgroup with multiple endocrine dysfunction. Short stature was common, being documented in 38% of cases. Gonadal dysfunction before or after puberty was also common (20% of cases) and affected both sexes equally. Diabetes mellitus was recorded in 13% of cases, half of which required insulin. Thyroid disease, hyperaldosteronism and hypomagnesaemia were uncommon but were probably not looked for in many cases. Bone or tooth abnormalities and calcification of the basal ganglia were found both in those with and without hypoparathyroidism. While endocrine and metabolic dysfunction was found more commonly in those with hypoparathyroidism this is likely to be due to increased recognition rather than increased prevalence. No evidence of an autoimmune polyendocrine syndrome including hypoparathyroidism was found.
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PMID:Endocrine dysfunction in Kearns-Sayre syndrome. 142 98

The strongly succinate dehydrogenase-reactive blood vessels (SSV) are shown to have increased numbers of enlarged mitochondria in smooth muscle cells of the vessel wall on electron microscopy. They are seen in biopsied skeletal muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) at high frequency. The present study was done to examine the incidence of SSV in biopsied muscles from various neuromuscular diseases. Among 107 patients with mitochondrial encephalomyopathies (MEM) including 50 with chronic progressive external ophthalmoplegia (CPEO), 7 with myoclonus epilepsy with ragged-red fibers (MERRF), and 50 with MELAS, SSV were seen in nearly a half of the patients, and comprised approximately 24% of small arteries. On the other hand, SSV in 100 patients with various neuromuscular diseases other than MEM were exceptional, and only one of 8 patients with myotonic dystrophy had SSV. These findings suggest that the SSV are induced by functional abnormality of mitochondria in smooth muscle cells, and that an identification of the SSV is an additional crucial evidence to make a pathological diagnosis of MEM.
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PMID:[Strongly succinate dehydrogenase-reactive blood vessels (SSV) in various neuromuscular diseases]. 142 48

Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a pluritissular disorder including diabetes mellitus, skin abnormalities, mitochondrial myopathy with ragged-red fibers, and cerebellar ataxia. Their mother had ptosis, ophthalmoplegia, and muscle weakness. Analysis of the mitochondrial respiratory chain showed a complex III deficiency in both skeletal muscle and lymphocytes of the second girl. Southern blot analysis provided evidence for a heteroplasmic partial duplication of the mtDNA (26 kb), involving one full-length and one partly deleted mitochondrial genome and with one single abnormal junction between the genes for ATPase 6 and cytochrome b. Using PCR amplification of lymphocyte DNA, we were able to detect minute amounts of duplicated molecules in the mother, which provided evidence for maternal inheritance of the partial duplication. While maternal transmission of point mutations have been reported in Leber disease, retinitis pigmentosa, and MERRF disease, this observation is, to our knowledge, the first example of a maternally inherited duplication of the mitochondrial genome in man.
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PMID:Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. 153 Nov 67

Among various mitochondrial encephalomyopathies, there are three distinct clinical entities, including chronic progressive external ophthalmoplegia (CPEO), myoclonus epilepsy associated with ragged-red fibers (MERRF), and mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS). They are now clearly demonstrated to have the respective specific mitochondrial (mt) DNA mutations, which facilitate us to analyse mtDNA for practical diagnosis. With molecular analysis on 40 CPEO, 6 MERRF and 40 MELAS patients, most patients in the individual disorders had the disease-specific mutations. In CPEO, 31 of 40 patients had deleted mtDNA in a heteroplasmic distribution; the mutant mtDNA were present in a large amount in the skeletal muscle and other symptomatically affected organs as observed on Southern blotting and polymerase chain reaction (PCR). In MERRF (6 out of 6 patients) and MELAS (32 out of 40 patients), mutant mtDNA was easily detectable with PCR not only in skeletal muscle but also in blood cells from several patients examined. The results lead us to conclude that molecular analysis helps to obtain definite diagnosis of the diseases without loss of time.
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PMID:[Clinical application of molecular diagnosis for mitochondrial encephalomyopathies]. 155 59

Endocrine functions were examined in 21 patients with mitochondrial myopathies presenting with chronic progressive external ophthalmoplegia and other additional neurological and multisystemic symptoms. Ten patients had the features of the Kearns-Sayre syndrome. Deletions of the mitochondrial DNA were found in 4 out of 5 patients examined. Fourteen patients, including 3 with deletions of the mitochondrial DNA, had various and often multiple endocrine abnormalities: 6 patients were of short stature, 3 had irregular menstrual cycles, 3 had undersized testicles, 5 showed an insufficient rise of growth hormone following the administration of growth-hormone-releasing hormone, 4 showed an insufficient rise in FSH after administration of gonadotropin-releasing hormone, 5 had manifest diabetes mellitus, 3 showed an impaired glucose tolerance, and 2 patients had subnormal serum levels of parathormone in combination with hypocalcaemia. One patient additionally had Klinefelter's syndrome with a kariotype 47, XXY and increased levels of FSH and LH, subnormal levels of testosterone and subnormal testicular volume. The occurrence of endocrine defects correlated with the duration of disease. The data demonstrate that endocrine abnormalities are frequently associated with mitochondrial myopathy, indicating that this multisystemic disease also involves various endocrine tissues.
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PMID:Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia. 160 Mar 49


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