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

For the first time in Germany cases of a "centronuclear myopathy" are described in a 14-year-old boy and his 18-year-old sister. First symptoms in both patients appeared at 4 to 5 years of age with a "sleepy facial expression", clumsy gait and rapid fatigue. Within few years the disease progressed to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa and areflexia. Weakness and atrophy were most pronounced in the distal muscles of the lower extremities. Both patients were free of epilepsy and the EEG recordings were normal. Motor and sensory nerve conduction velocities were normal. Repetitive stimulation of nerves revealed a normal transmission from nerve to muscle. Muscle biopsy showed a type I muscle fiber hypotrophy and a type II muscle fibre hypertrophy in addition to a predominance of type I fibres. Both fibre types showed central nuclei, sometimes appearing as chains in longitudinal sections. In most cells with central nuclei there persists a very small pericentral zone free of myofibrils but with increased activity of oxidative enzymes and phosphorylase. 2--3% of muscle fibres in cross sections showed a decreased of absent enzyme activity in the most peripheral fibre zone. Electron microscopy showed evidence of a centrally distinct myofibrillar disintegration. The father of both children had a ptosis at least from the 20th year of age. 5 years later generalized progressive muscle atrophy was recorded. Aged 51 years he died of pneumonia. Though not proved most probably the father suffered from the same disease as the children, pointing to an autosomal dominant inheritance in this family. The disease, according to the literature, seems to be genetically heterogeneous. The clinical picture seems to be independent of the mode of inheritance. Our patients showed a relatively rapid progression of symptoms. Pathogenetically the "centronuclear myopathy" may result from a disturbance of correlated nerve-muscle structures starting during early fetal life.
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PMID:[Centronuclear myopathy with autosomal dominant inheritance(author's transl)]. 115 Feb 40

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

Twenty consecutive patients with recurrent Tolosa-Hunt syndrome were studied. One had a parent who suffered from recurrent Tolosa-Hunt syndrome. Thirty-three percent of the patients had also recurrent periods of weeks to months of unilateral periorbital pain without ophthalmoplegia. One patient had cluster headache before the Tolosa-Hunt syndrome started. Some patients had involvement of cranial nerves outside the cavernous sinus region during Tolosa-Hunt syndrome and also between episodes. The same systemic symptoms, i.e. back pain, cold feet, arthralgia, gut problems, varices, vertigo, chronic fatigue, thrombophlebitis, memory deficiency and signs of inflammation in serum, occurred in Tolosa-Hunt syndrome as earlier found in patients with orbital venous vasculitis. Seventy-three percent of the patients had pathologic orbital phlebograms. All patients treated with steroids reacted promptly; four who developed chronic pain syndromes were treated satisfactorily with azathioprine.
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PMID:Recurrent Tolosa-Hunt syndrome. 155 57

The delay between the stimulus and the voluntary eye saccade is the only parameter of the saccadic system which can be measured by using standard apparatus. Taking manually the measurements made on records obtained by using minicomputer; the authors show that such manual measurement of latencies is easy and yet sufficiently accurate to be of great clinical value. The latencies of voluntary saccades are normal in peripheral pathology (less than 250 milliseconds). Latencies of voluntary saccades are significantly increased in extrinsic brain stem lesions: tumours (in particular ponto cerebellar tumours), meningitis, head injury; but the velocity of the saccade is normal. This effect goes in parallel with impairement of the smooth pursuit. In intrinsic brain stem lesions (multiple sclerosis, acute brain stem stroke, oculomotor paralysis) latencies are increased bilaterally and above all, there is a significant slowing of the saccade. The role of fatigue increased latencies in some patients of this series. Two populations can be discerned in vestibular neuritis: one normal and one with abnormal smooth pursuit and increased saccadic latencies.
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PMID:[Measurement of the latencies of voluntary and corrective ocular saccades. Value in otoneurology]. 684 74

A 17-year-old girl was admitted to our hospital because of drowsiness, diplopia and gait difficulty. She had been well until ten days before admission when fever, drowsiness, headache and general fatigue developed. On admission, there were drowsiness, ophthalmoplegia, ataxia and hyporeflexia. CSF cells and anti-CMV antibody titers increased. CMV-DNA was detected in the CSF by the polymerase chain reaction (PCR). Serum anti-GQ1b antibody was positive. During recovery, forced laughing temporarily appeared. The neurological symptoms disappeared completely. CSF anti-CMV antibody titers became normalized and CSF CMV-DNA-PCR became negative. This is the first case report of Bickerstaff's brainstem encephalitis associated with CMV infection.
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PMID:[Bickerstaff's brainstem encephalitis associated with cytomegalovirus infection]. 802 40

We have investigated a 15 year old girl with progressive external ophthalmoplegia, including bilateral ptosis and retinal rod and cone cell dysfunction with atypical retinal pigmentation, complicated by cerebellar ataxia, partial cardiac conduction block, and diabetes mellitus. In infancy she had a severe crisis of bone marrow depression, and as a child she suffered from hypersensitivity to light, increasing fatigue, and vertigo, signs that were initially though to be psychosomatic. Histological examination showed mitochondrial myopathy, and subsequent mitochondrial DNA (mtDNA) analysis showed a deletion of approximately 5500 base pairs in 35 to 40% of her muscle mtDNA. We therefore conclude that this patient has developed the Kearns-Sayre syndrome after a Pearson syndrome-like crisis in her first year of life.
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PMID:Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. 815 37

We studied muscle fatigue and serum lactate and pyruvate levels in 20 patients with mitochondrial myopathy with progressive external ophthalmoplegia (PEO). Fatigue was assessed in the adductor pollicis muscle (AP) using a low-intensity exercise protocol (20 min). Forces (TFs) and relaxation times of ulnar nerve evoked twitches, compound muscle action potentials (CMAPs), and maximal voluntary contractions (MVCs) were monitored. Serum lactate and pyruvate levels were independently measured at rest and after exercise on a bicycle (15 min, 30 W). Most patients showed abnormal fatigue of the AP with a reduction of TFs and MVCs and normal CMAPs. The reduced TFs were significantly correlated with lactate levels at rest (r= - 0.60, P<0.05) and less so with those after exercise (r=- 0.47,P<0.05). Pyruvate levels revealed a similar correlation although they were widely scattered. We conclude that abnormal fatigue in PEO is metabolic, is localized beyond the muscle fiber membrane, and involves the electrome-chanical coupling and the contractile apparatus. Serum lactate levels at rest are good predictors of fatigue in PEO.
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PMID:Muscle fatigue, lactate, and pyruvate in mitochondrial myopathy with progressive external ophthalmoplegia. 862 24

Many reports in the literature describe a variety of ocular signs in myasthenia gravis. To determine the utility of laboratory recordings of ocular signs in the evaluation for myasthenia, we reviewed all previous studies of quantitative measures of eye movements or intra-ocular pressures. We selected those studies with data presented for both myasthenic and non-myasthenic ocular palsies. Signal detection theory was used to evaluate the discriminative power of each variable. The characteristics of saccades and quick phases of optokinetic nystagmus at the start of recording were poor at distinguishing between myasthenic and non-myasthenic palsies, except when the comparison was solely between myasthenia and chronic progressive external ophthalmoplegia. The effects of fatigue on saccadic parameters were also not discriminative, though there was insufficient data to evaluate this adequately. Changes induced by edrophonium in the amplitude or peak velocity of saccades or optokinetic quick phases were good diagnostic tests, retaining high sensitivities when criteria were set to yield a specificity of 95%. Most of these parameters were less efficient as screening tests, with modest specificities when criteria were set to yield a sensitivity of 95%. The change in optokinetic quick phase amplitude recorded by infrared oculography was the best test, with ideal characteristics of 97% specificity and sensitivity at a criterion of zero change. This analysis suggests that eye movement recordings of saccades or optokinetic nystagmus have potential as useful and inexpensive tests for myasthenia, and warrant further study.
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PMID:Quantitative ocular tests for myasthenia gravis: a comparative review with detection theory analysis. 956 31

We present a patient with external ophthalmoplegia, bilateral ptosis, progressive muscle weakness with "ragged-red fibres" and mental retardation. Mitochondrial DNA analysis by Southern blot revealed heteroplasmy in muscle for a 7.4 kb deletion. In white blood cells, the deletion was only detectable by PCR. There was no evidence for duplications, nor for multiple deletions in the proband or siblings. PCR analysis did not reveal the presence of a mitochondrial DNA defect in the parents and siblings. Thus, there is no experimental support for a maternally inherited mitochondrial DNA deletion. We consider this a sporadic case with a de novo deletion. Diabetes and complaints of fatigue, also seen in this family, are probably coincidental. Mental retardation has been reported occasionally in patients with mitochondrial deletions, but is not common.
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PMID:A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation. 1054 1

A 36-year-old Japanese woman was admitted to our hospital, because of facial palsy, ophthalmoplegia, cerebellar ataxia, and rhythmic myoclonus of the neck. About a few weeks before admission, she developed symptoms of common cold and general fatigue. Her laboratory data were unremarkable, and her CSF was normal. Serum levels of antibodies to gangliosides were within normal limits. Her MRIs of the brain and neck were normal. Both somatosensory evoked cortical potential study and auditory evoked brainstem response study were normal. She was diagnosed as postinfectious brainstem encephalitis, and the administration of corticosteroid was started. After the treatment, her symptoms improved. To our knowledge, it is rare to see myoclonus to the neck without palatal tremor in patients with brainstem encephalitis.
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PMID:[Rhythmic involuntary movement of the neck in a patient with brainstem encephalitis]. 1065


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