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)

Autosomal dominant olivopontocerebellar degeneration was diagnosed in a family of Scottish ancestry by clinical examination and autopsy. In addition to having progressive cerebellar ataxia, head titubation, and severe dysarthria, the patients are unable to initiate saccadic eye movements. Slow pursuit movements are normal. Reflex movements of the eyes caused by passive rotation or caloric labyrinthine stimulation are not impaired but are not associated with nystagmus. The phenomenon can be classified as supranuclear pseudo-ophthalmoplegia. It differs from congenital ocular motor apraxia in age at onset and the absence of random eye movements. The anatomic lesion responsible for the defect of saccadic eye movements remains to be established.
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PMID:Supranuclear ophthalmoplegia in olivopontocerebellar degeneration. 94 71

Direct current electro-oculography revealed abduction nystagmus with hypermetric abduction saccades in 35 of 64 patients with unilateral and 55 of 66 patients with bilateral internuclear ophthalmoplegia. Slowing of abduction saccades occurred in 27 unilateral cases, mainly ipsilateral to the paretic eye, and in 36 bilateral cases. Abduction nystagmus with hypermetric abduction saccades of normal velocity is explained by an increased phasic innervation adjusted to adduction paresis. Slowed abduction saccades are attributed to impaired inhibition of the medial rectus muscle. Superposition of impaired medial rectus inhibition and increased phasic innervation best explains abduction nystagmus with slowed hypermetric (6 unilateral and 23 bilateral cases) or normometric abduction saccades (9 unilateral and 5 bilateral cases).
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PMID:Abduction nystagmus in internuclear ophthalmoplegia. 145 82

A Japanese woman, aged 42, was admitted because of paroxysmal attacks consisting of paresthesia of the left face, tremor in the right hand, epigastric pain and urinary incontinence. A year prior to the admission, she noticed some difficulty in writing, dysarthria and unsteadiness of walking. These symptoms had been persistent since then. At the end of March, 1991, these symptoms rapidly worsened, and she fell down frequently. She also experienced pain behind both eyes, numbness in her left fingers and toe, urinary frequency and the above-mentioned attacks. Neurological examination disclosed bilateral internuclear ophthalmoplegia and upbeating nystagmus on upward gaze, titubation in the head, scanning speech, dysmetria in all limbs, exaggerated reflexes in jaw and both legs, bilateral extensor plantar reflexes and ankle clonus. SEP showed delayed cortical response with stimulation of the median nerves bilaterally and of the right posterior tibial nerve. P40 was absent with the left posterior tibial nerve stimulation. VEP was normal. T2-weighted image of MRI showed multiple high intensity areas located around the third ventricle, crus cerebri and the right upper part of the pons. The diagnosis of multiple sclerosis was made. Each paroxysmal attack started with numbness in the left face and burning sensation in the neck. Almost simultaneously tremor in the right hand began. The surface EMG showed the rhythmic contractions in the dorsal hand muscles and wrist extensors at a frequency of 6-7 Hz, and sometimes it revealed synchronized contractions of finger flexors and the dorsal hand muscles. A few seconds later she felt painful sensation in the epigastric region, and the tremor gradually increased in its intensity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of multiple sclerosis with paroxysmal attacks of facial paresthesia, unilateral hand tremor, epigastric pain and urinary incontinence]. 162 36

The correlations between clinical signs and BAEP latency, amplitude and dispersion variables were investigated in 98 multiple sclerosis patients. A new dispersion variable, the wave IV-V "shape ratio" (SR IV-V), correlated most strongly with brain-stem signs (i.e., nystagmus). Severely reduced wave IV-V amplitude was frequently found in patients with vertical nystagmus or internuclear ophthalmoplegia, and interpeak latency (IPL) III-V correlated most strongly with cerebellar dysfunction (i.e., ataxia). The results may reflect different localizing ability among the various BAEP variables. The association between ataxia and increased IPL III-V was significantly stronger for BAEP to C clicks than to R clicks. Patients with abnormal BAEPs to one polarity (C or R) but not to the other, had significantly more clinical dysfunction than patients with normal BAEPs to both C and R clicks. Hence, C vs. R discordance may be interpreted to indicate possible brain-stem dysfunction.
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PMID:Clinical correlates of brain-stem auditory evoked potential variables in multiple sclerosis. Relation to click polarity. 171 39

We describe a patient with a dissociated vertical nystagmus and an internuclear ophthalmoplegia. The vertical nystagmus consisted of a left downward nystagmus with a synchronous right intorting nystagmus when the patient looked down and to the left. This rare type of nystagmus has been described both in isolation and in association with an internuclear ophthalmoplegia. Previous authors postulated a lesion in the midbrain in the region of the medial longitudinal fasciculus. In our patient, a discrete midbrain infarction was demonstrated on magnetic resonance imaging in the hypothesized location, thus providing supportive anatomical evidence for a vertical gaze coordination pathway in the region of the medial longitudinal fasciculus.
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PMID:Dissociated vertical nystagmus and internuclear ophthalmoplegia from a midbrain infarction. 184 38

The authors report on one case of Wolfram syndrome, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, optic atrophy and sensorineural deafness. The findings of this 13-year follow-up show that this patient developed typical neurological complications of long-standing diabetes mellitus as in the common type 1 variant. Moreover, some peculiar signs occurred such as anosmia, ophthalmoplegia interna, and central nystagmus. Since Wolfram syndrome is probably part of a more generalized neurodegenerative disorder, long-term prognosis will depend both upon the severity of chronic diabetic complications and upon the rapidity, by which degeneration of cerebellar, pontine and brain stem structures appear. Prognosis of the cardinal clinical signs is such that optic atrophy, though usually quite rapid in the beginning, generally does not lead to complete blindness. Sensorineural hearing loss progresses very slowly so that deafness might be expected exceptionally only. The hearing deficit in classical diabetics, however, is of retrocochlear origin. Therefore, in Wolfram syndrome, a combined inner-ear and retrocochlear hearing loss may occur.
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PMID:Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome)--neurological findings and prognostic implications. 185 94

Maple Syrup Urine Disease is an autosomal recessive disorder of branched chain amino acid metabolism with an incidence in Ireland of one in 140,154 births. Ocular complications in untreated or late diagnosed patients includes optic atrophy, grey optic papilla, nystagmus, ophthalmoplegia, strabismus and cortical blindness. Seven patients with maple syrup urine disease were studied. All were diagnosed with the aid of newborn screening and commenced on early dietary treatment (mean age at diet introduction = 5 days). All remain physically well, with average intellectual performance, three having minor neurological defects and one strabismus. Early diagnosis, proper therapy and subsequent vigilant management may reduce substantially the risks of ophthalmic complications in this rare disease.
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PMID:Ophthalmic findings in maple syrup urine disease. 192 19

Thiamin is one of the marginally adequate nutrients in the Australian diet. The incidence and prevalence of Wernicke-Korsakoff syndrome in this country may be the highest in the world. Homeless men could be at risk for low intakes of thiamin in association with irregular high alcohol intakes. A sample of 107 homeless men from two hostels and one clinic for homeless persons in inner Sydney was investigated for nutritional status; their thiamin status is reported here. By means of 24-hour recall methods, their mean dietary thiamin intake--0.76 mg per day--was less than the National Health and Medical Research Council's recommended dietary intake of 1.1 mg per day; at 0.076 mg/MJ it was even less than the minimal requirement of 0.08 mg/MJ. It was much lower than the mean intake of 1.38 mg per day that was found in the 1983 National Dietary Survey of adults and the distribution of thiamin intakes in this study was skewed positively, with the largest intake being in the range of 0-0.1 mg per day. On clinical examination we found a high prevalence of signs that were consistent with thiamin deficiency. Twenty-four per cent of the subjects showed three-or-more of the signs of the Wernicke-Korsakoff syndrome (ophthalmoplegia, nystagmus, ataxia, peripheral neuropathy and global confusion). In assaying for red-cell transketolase levels, this subgroup showed higher thiamin pyrophosphate effects than did the whole sample. Thirty-six per cent of the whole sample showed subnormal thiamin status by the thiamin pyrophosphate effect. Thus, in this sample, homeless men showed a high prevalence of dietary, biochemical and clinical features to indicate subclinical or early clinical thiamin deficiency.
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PMID:Thiamin status of a sample of homeless clinic attenders in Sydney. 204 82

Wernicke's encephalopathy should be considered as a possible diagnosis in comatose and hypothermic patients. The classic triad of confusion, ophthalmoplegia (or nystagmus) and ataxia may be absent, and the history of alcohol abuse or other causes of thiamine deficiency may be unknown. Left untreated, acute Wernicke's encephalopathy has a 17 percent mortality rate. Since the morbidity from Wernicke's encephalopathy is potentially reversible with parenteral thiamine, and large doses of thiamine can be given without documented ill effects, it is recommended that all comatose or hypothermic patients, as well as those with more classic presentations of Wernicke's encephalopathy, be given parenteral thiamine before administration of glucose.
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PMID:Wernicke's encephalopathy. 218 37

Several structures, located at different levels in the Central Nervous System (CNS), collaborate to the control and realization of ocular movements (O.M.) Therefore, alterations of oculomotricity, of varying degree and of different kinds, may be found in a lot of diseases of the CNS. The study of O.M., expecially when carried out by means of specific techniques such as electro-oculography, may represent an useful tool in the diagnosis (both from a topographic and an etiological standpoint) and in the follow-up of patients, possibly also allowing a precise evaluation of therapy effectiveness. In this review the Authors briefly examine the role of the supranuclear structures mostly involved in the control and in the execution of oculomotricity and the characteristics of the different types of O.M. (rapid and slow, vergence movements). Successively, they analyze the semeiological features of supra-nuclear disturbances of O.M., describing alterations of saccadic movements (slowing, dysmetria) and of smooth pursuit, fixation instability (square waves, flutter, opsoclonus, nystagmus,...) and other alterations of O.M. (ocular bobbing, see-saw nystagmus, skew deviation,...). Successively, disturbances of O.M. are analyzed in relation to their topodiagnostic significance, describing oculomotor involvements due to focal lesions of different areas of CNS (frontal cortex, parieto-occipital cortex, basal ganglia, cerebellum, brainstem) and particular syndromes (Foville syndromes, locked-in syndrome, Parinaud syndrome, anterior internuclear ophthalmoplegia, "one and a half" syndrome, Balint syndrome,...). Finally, particular attention is drawn to the oculomotor disturbances observed in degenerative cerebellar and multisystemic diseases, and several abnormal "oculomotor patterns", which seem to be specifically related to particular diseases, are described. In particular, the oculomotor patterns of Steele-Richardson-Olszewsky disease (slowing and hypometria of horizontal saccades, loss of upward saccades with preservation of reflex movements) and of Friedreich ataxia (fixation instability mostly due to the occurrence of square waves, saccadic dysmetria, impairment of smooth pursuit) are stressed.
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PMID:[The physiopathology of supranuclear structures in oculomotor disorders]. 219 86


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