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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study quantitates the major morphological and cytochemical changes in limb muscle biopsies from 37 patients with the syndrome of chronic progressive external ophthalmoplegia (CPEO). The aim was to assess the value of limb muscle biopsy in the diagnosis of this syndrome; to define the myopathological changes and to determine whether there were any specific clinico-pathological correlations. Patients were divided into three clinical groups--11 patients with CPEO with facial and/or limb muscle weakness; 10 with CPEO with facial and/or limb muscle weakness and a positive family history; 16 with CPEO with one or more of the following: pigmentary retinopathy, cerebellar ataxia, pyramidal signs and peripheral neuropathy. The following parameters were measured: the proportions of histochemical fibre types, the muscle fibre areas and the percentage of muscle fibres showing increased oxidative enzyme activity. Pooled results for each of the clinical categories were compared. Statistical analysis of fibre areas and the percentage of fibres with increased oxidative enzyme activity, showed that group 2 differed from the others (p less than 0.05). Patients in group 2 showed the highest incidence of type 1 fibre hypertrophy, type 2A atrophy and the lowest incidence of fibres with increased oxidative activity. Fibre type disproportions occurred in all three groups but the differences were not significant.
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PMID:Chronic progressive external ophthalmoplegia. I. A quantitative histochemical study of skeletal muscles. 320 11

This study quantifies the major electron microscopic changes in limb muscle biopsies from 31 out of 34 patients with the syndrome of chronic progressive external ophthalmoplegia. Patients were divided into three clinical groups -- A) 10 sporadic cases with muscle weakness only; B) 9 familial cases with muscle weakness only; C) 15 cases with muscle weakness and one or more of the following features: pigmentary retinopathy, cerebellar ataxia, pyramidal signs and peripheral neuropathy. Electron microscopic mitochondrial abnormalities were found in all groups (8 patients from group A, 3 from group B, 14 from group C). Quantitative measurements of certain muscle fibre constituents, using a point-counting technique, revealed decreased myofibril volume-fractions and increased volume-fractions of mitochondria, glycogen and lipid in some biopsies from each group. Mitochondrial volume-fractions correlated positively with lipid content, the proportion of type 1 fibres, and the percentage of fibres with increased oxidative enzyme activity. The three groups defined clinically showed no significant differences in terms of the relative proportions of these measured constituents.
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PMID:Chronic progressive external ophthalmoplegia. II. A qualitative and quantitative electronmicroscopy study of skeletal muscles. 320 12

A report is given of a black family with a dominantly inherited, neuro-retinal degeneration associated with abnormally large mitochondria, in which the cristae are disoriented. The disease is characterised by progressive external ophthalmoplegia, clear-cut macular degeneration, cerebellar dysarthria, spastic paraplegia and finally facial and bulbar weakness. A similar illness has been described in black families and individuals and we suggest that the disease may represent a specific syndrome, possibly confined to blacks, that lies within the spectrum of the so-called mitochondrionopathies.
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PMID:A dominantly inherited progressive disease in a black family characterised by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria. 321 38

We tested the hypothesis that abnormalities of the abducting eye in internuclear ophthalmoplegia reflect an adaptive process that helps overcome the adduction weakness of the opposite eye. This response operates under the constraints of Hering's law of equal innervation: any attempt to increase the innervation to a weak muscle in one eye must be accompanied by a commensurate increase in innervation to the yoke muscle in the other eye. In 4 patients with internuclear ophthalmoplegia, we patched one eye for 1 to 5 days to allow time for the central nervous system to optimize innervation for the habitually viewing eye. We predicted that there would be a conjugate adjustment of innervation that would diminish the abduction overshoot and backward postsaccadic drift made by the habitually viewing eye. This was the case in 3 of our 4 patients. Our findings show that the abduction nystagmus is a manifestation of a normal adaptive response in some patients with INO.
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PMID:Abduction nystagmus in internuclear ophthalmoplegia. 357 24

A case of carnitine palmitoyl transferase deficiency presenting in a 72 year old woman with the clinical picture of ophthalmoplegia plus other muscle weakness is reported. Histological and ultrastructural examination showed the features of a mitochondrial myopathy.
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PMID:Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities. 365 14

Four African children with sporadically occurring centronuclear myopathy of the childhood form are described. Three were female. All had the characteristic clinical features of hypotonia, facial weakness, and external ophthalmoplegia. Muscle histology showed centrally placed nuclei in small type I fibres.
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PMID:Centronuclear myopathy in black African children--report of 4 cases. 369 89

The clinical features of 66 patients with histologically defined mitochondrial myopathy are described. The age of onset of symptoms ranged from birth to 68 years, but was before 20 years in 61%. Nineteen patients had similarly affected relatives. Three groups of cases could be identified clinically: a combination of progressive external ophthalmoplegia and weakness of the limbs induced or increased by exertion (55%); such limb weakness alone (18%); and those with clinical features, such as ataxia, dementia, deafness, involuntary movements and seizures, predominantly or exclusively arising from the CNS (27%). There was considerable overlap between these groups, and pigmentary retinopathy, present in 36% of patients, occurred in all three. At a mean disease duration of twenty years, 9 patients (all from Group 3) were severely disabled but 42 were still able to work. In vitro studies of mitochondrial metabolism, performed in 33 cases, most commonly showed deficiencies of the mitochondrial respiratory chain localized to complex I (18 patients) or complex III (9). No typical clinical picture emerged for any of the identifiable biochemical defects.
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PMID:The clinical features of mitochondrial myopathy. 377 73

We studied the pulmonary function and ventilatory response to carbon dioxide and hypoxia in three sisters aged 16, 13, and 10 years who presented with droopy eyelids, external ophthalmoplegia, hearing loss, speech difficulty, and truncal muscular weakness. Pulmonary function test results showed decreased maximum static pressure, reduced vital capacity and total lung capacity, normal functional residual capacity, elevated residual volume, and reduced dynamic pulmonary volumes. The degree of functional abnormality paralleled the severity of clinical manifestations. The characteristic picture of pulmonary functional abnormality was distinct from either restrictive disorders of pulmonary origin or obstructive pulmonary diseases. The ventilatory response to hypoxia was markedly diminished and hypercapnic response was moderately diminished in all three patients.
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PMID:Pulmonary function and ventilatory response to chemical stimuli in familial myopathy. 393 Jan 59

A case is presented of a 33-year-old male with ophthalmoplegia, ataxia and areflexia followed by complete recovery. There was no clinical evidence of motor weakness or sensory disturbances in the limbs. Electromyography and nerve conduction studies were normal. Sural nerve biopsy during the sixth week of illness revealed no abnormalities.
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PMID:Peripheral nerves in Fisher's syndrome. 406 Oct 56

A Japanese family with progressive spinal muscular atrophy is presented. Seven members in two generations were affected and the mode of inheritance was probably an autosomal recessive trait. A characteristic feature of this family was the presence of oculopharyngeal involvement in some of the affected members, in addition to the variable distribution of muscular atrophy among each of the affected members, such as mainly proximal or distal atrophies in the limbs. In one case the oculopharyngeal weakness appeared without limb involvement. The changes in the extremities were thought to be of neurogenic origin, and so was the progressive external ophthalmoplegia seen characteristically in these cases, although the latter was similar to ocular myopathy.
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PMID:Oculopharyngeal involvement in familial neurogenic muscular atrophy. 469 81


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