Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The orthopaedic surgeon is often the first consultant to whom a patient with syringomyelia is referred. The disease is not as rare as he may suppose, but its early presenting features are very variable; if he relies solely on such familiar features as pes cavus and scoliosis, he may well miss the diagnosis. The commonest presenting symptom is pain in the head, neck, trunk or limbs; headache or neckache made worse by straining is particularly significant. A history of birth injury also may suggest the possibility of syringomyelia, especially if any spasticity subsequently worsens. Neurological features which may be diagnostic include nystagmus, dissociated sensory loss, muscle wasting, spasticity of the lower limbs or Charcot's joints. Radiographic features include erosion of the bodies of cervical vertebrae and widening of the spinal canal; if, at C5, the size of the canal exceeds that of the body by 6 millimetres in the adult, pathological dilatation is present. The presence of basilar invagination or other abnormalities of the foramen magnum, of spina bifida occulta and of scoliosis are further pointers. Thermography is a useful way of showing asymmetrical sympathetic involvement in early cases. A greater awareness of the prevalence of syringomyelia may lead to earlier diagnosis and to early operation, which appears to hold out the best hope of arresting what is all too commonly a severely disabling and progressive condition.
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PMID:Orthopaedic features in the presentation of syringomyelia. 15 24

Quantitative and qualitative assessment of vestibular function was made in 18 female subjects with adolescent idiopathic scoliosis and a control group of 25 female subjects without scoliosis. The Southern California Postrotary Nystagmus Test, which examines postrotatory nystagmus response, was used to assess the vestibular function of subjects in both groups. The results indicated that subjects with adolescent idiopathic scoliosis had a significantly decreased duration of postrotatory nystagmus as well as irregularities in nystagmus form. The recommendation was made that a neurological examination, including assessment of vestibular function, be incorporated into screening methods for scoliosis.
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PMID:Horizontal postrotatory nystagmus response in female subjects with adolescent idiopathic scoliosis. 31 73

An electro-nystagmographic study of postural effects on the nystagmus response has been performed in 40 patients with adolescent idiopathic scoliosis aged from 10 to 16 years. The control group comprised 29 healthy children of the same age. Caloric labyrinthine stimulation was done in the supine and erect position. The results were analysed with the aim of finding out whether an increased scoliotic deformity might influence the labyrinthine response. For comparison of the nystagmus response in the two different positions a quotient of the values (degrees/second) obtained from cold water stimulation in the erect and supine position was calculated. In the control children the labyrinthine response in erect posture was half of the response in supine posture. In erect posture the scoliotic deformity increased. This obvious change in the spine did not increase the caloric response from the convex side labyrinth. The predominance of the convex side labyrinth observed in the supine position was thus not seen in the erect position. The results of this study did not support the assumption that a postural deformity in the spine can influence a calorically induced labyrinthine response.
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PMID:Postural effects on nystagmus response during caloric labyrinthine stimulation in patients with adolescent idiopathic scoliosis. II. An electro-nystagmographic study. 53 84

An electro-nystagmographic study of labyrinthine function was performed in 56 patients with adolescent idiopathic scoliosis (AIS)aged from 10 to 16 years. Forty-seven patients had major structural single curvatures, and nine patients had double-primary scoliosis and were analysed separately. Treatment was required in 36 cases while 20 were being observed only. Thirty healthy children of the same ages constituted a control group. Spontaneous nystagmus (SN) and positional nystagmus (PN) were found in 24 out of the 47 patients with single curvatures and in only one subject in the control group (P less than 0.001). No significant correlation was noted between direction of convexity and nystagmus. Neither did the frequency of SN or PN differ significantly between patients requiring treatment and patients submitted to observation only. Significant differences were observed in the caloric response between right and left scoliotic patients (P less than 0.05). The right convex patients had a sensitivity dominance in the right labyrinth and the left convex patients in the left labyrinth. There were no significant differences between right- and left-beating nystagmus. A dysrhythmic nystagmus occurred in the scoliotic patients with significantly increased frequency (P less than 0.05). The results are discussed with special reference to aetiology in AIS. It was difficult, however, to draw any definite conclusion as to whether the findings may indicate a causative factor in relation to the idiopathic curvature or whether they might be a feed-back effect from the deformed spine.
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PMID:A study of labyrinthine function in patients with adolescent idiopathic scoliosis. I. An electro-nystagmographic study. 53 51

Paralysis of horizontal gaze, pendular nystagmus, and progressive scoliosis were manifestations of an autosomal recessive genetic disease in four siblings. Bilateral facial myokymia with continuous facial contraction developed in the oldest patient. Electromyographic examination of his facial muscles after facial nerve block at the stylomastoid foramen showed absence of all muscle potentials, consistent with a supranuclear origin of the myokymia. Normality of convergence, vertical gaze, and pupillary constrictor reflex activity assured integrity of midbrain ocular motor function. Absence of horizontal vestibulo-ocular reflexes signified involvement of the pontine tegmentum in this distinctive heredofamilial syndrome.
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PMID:Familial paralysis of horizontal gaze. Associated with pendular nystagmus, progressive scoliosis, and facial contraction with myokymia. 123 21

A woman has appeared normal during her neonatal and childhood period except for a short stature. Her parents were healthy and non-consanguineous. At the age of 8, she noticed difficulty in climbing stairs and had tendency to fall. In her 13th year, she developed marked scoliosis and genu valgum. Physical examination at 14 years of age revealed a gentle and shy child of short stature with brown-black kinky hair. Neurological examinations revealed progressive mental retardation, optic nerve atrophy, moderate and coarse nystagmus on lateral and vertical gaze, atrophic tongue with fasciculations, slow and scanning speech, distal muscular weaknesses with diffuse atrophies in the four extremities and sensory deficiencies in all modalities with a glove-stocking type distribution. At the age of 15, she was unable to walk without a wheelchair. During the course she showed slowly progressive muscular weakness, ataxia and decreasing sensation especially in the lower extremities. She died of infection of the respiratory and urinary tracts at the age of 25. Pathologically the abnormalities in the biopsied and autopsied sural nerve were characterized by an advanced stage of nerve fiber degeneration without giant axons. The phrenic nerve obtained at autopsy at 1 to 10 cm from axon terminal revealed the presence of several large focal axonal swelling of 15-20 microns in diameter. On the other hand, sections of the phrenic nerve at 15 cm from axon terminal displayed a mild to moderate reduction in the number of myelinated fibers without giant axons. The difference of pathological findings among these specimens seems to depend on the time as well as the site of the examination.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Advanced stage of giant axonal neuropathy]. 165 77

To determine whether equilibrial dysfunction is the cause or effect of idiopathic scoliosis, patients with idiopathic scoliosis, congenital scoliosis, and comparable controls were tested, using clinical postural tests and electronystagmographic recording of spontaneous and positional nystagmus, smooth visual pursuit, and rotation-induced nystagmus. The scoliosis patients were stratified as progressive or nonprogressive. Dysfunctional responses occurred in the idiopathic progressive and congenital progressive groups, and in two idiopathic non-progressive patients whose curves subsequently deteriorated. These results suggest that equilibrial dysfunction is characteristic of patients with progressive curves, regardless of etiology, implying that it is secondary to the curve rather than a primary event. Seven patients with progressive curves undergoing surgical correction and stabilization were tested preoperatively and 6 months postoperatively. No change in the responses occurred, suggesting the dysfunction persists at least 6 months following arrest of progression.
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PMID:Equilibrial dysfunction in scoliosis--cause or effect? 252 74

The Chiari malformation is a condition characterized by herniation of the posterior fossa contents below the level of the foramen magnum, and is categorized into three types based on the degree of herniation. The authors review their surgical experience between 1975 and 1985 with 50 patients afflicted with symptomatic Chiari malformations. Any patient with associated myelomeningocele, tethered spinal cord, lipoma, or diastematomyelia was excluded from this series. Forty-one patients had Chiari I malformations, seven were classified as having Chiari II, and two as having Chiari III. The presentation of pediatric and adult patients was identical. Treatment was directed at the posterior fossa pathology. Seven patients with accompanying ventral bone compression underwent transoral decompression of the cervicomedullary junction, 42 had posterior decompressive procedures, and six received ventriculoperitoneal shunts. The posterior decompression included opening the outlet foramina of the fourth ventricle, occluding any communication between the spinal cord central canal and the obex, shunting the fourth ventricle, and placing a dural graft. Postoperatively, 20% of the patients are asymptomatic, 66% improved, and 8% stabilized; in 6% the disease has progressed in spite of multiple procedures. Preoperative signs that are predictive of a less favorable outcome include muscle atrophy, symptoms lasting longer than 24 months, ataxia, nystagmus, trigeminal hypesthesia, and dorsal column dysfunction (p less than 0.05, chi-square test). A model based on the presence or absence of atrophy, ataxia, and scoliosis at the time of the preoperative examination has been generated that allows prediction of long-term outcome at the 95% confidence level.
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PMID:Symptomatic Chiari malformations. An analysis of presentation, management, and long-term outcome. 274 41

Loss of conjugate horizontal eye movements is usually due to a lesion in the pons (tumour, vascular, M.S.). However, the condition may also be congenital, either isolated or as part of Moebius's syndrome. Three patients with congenital absence of all conjugate horizontal eye movements are described. In two of them a conjugate pendular nystagmus was observed. Two of the three patients suffered from progressive scoliosis. Congenital absence of all conjugate horizontal eye movements, associated with progressive scoliosis, probably forms a separate clinical entity.
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PMID:Congenital absence of conjugate horizontal eye movements. 342 93

Eight children of five families, seven boys and one girl, suffering from scoliosis associated with absence of lateral eye movement and horizontal nystagmus have been studied. The absence of lateral vision was noticed soon after birth, while the scoliosis appeared after the beginning of walking. A review of the relevant bibliography is presented, with a summary of the 18 cases of this interesting syndrome so far described. The pathogenesis of idiopathic scoliosis is considered in the light of the information obtained from the study of these patients.
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PMID:Scoliosis associated with congenital brain-stem abnormalities. A report of eight cases. 648 Jan 85


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