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)

Intact mitochondria were isolated from skeletal muscle of two patients with Kearns-Sayre syndrome (retinitis pigmentosa, heart block, chronic external ophthalmoplegia), and mitochondrial protein translation was measured. Mitochondrial protein synthesis was up to 10 times greater than in control subjects and SDS-polyacrylamide gel electrophoresis revealed absence of a translation product with the mobility of a 5 KDa protein. State 3 respiration rates were normal with site 1 and site 2 substrates, suggesting that the absent protein was not a functional subunit of a respiratory chain complex.
Neurology 1987 Sep
PMID:Mitochondrial studies in Kearns-Sayre syndrome: normal respiratory chain function with absence of a mitochondrial translation product. 362 52

Progressive limb dystonia contributed to disability in 8 of 30 patients with progressive supranuclear palsy (PSP). In five, it was present when the patients were on no medication. In four, it had been present before the distinctive ophthalmoplegia permitted a correct diagnosis. The severity of limb dystonia did not correlate with the severity of either ophthalmoplegia or neck dystonia. The importance of dystonia in the pathophysiology of PSP is emphasized, with regard to both the branchial dystonia that underlies several cardinal features of the disease, and to the frequent occurrence of limb dystonia as an early sign.
Neurology 1987 Sep
PMID:Limb dystonia in progressive supranuclear palsy. 362 56

An 18-year-old girl developed a reversible locked-in state with bilateral ptosis and almost complete ophthalmoplegia. She later presented with a relapsing and remitting course suggestive of multiple sclerosis. Autopsy findings demonstrated bilateral capsular and tegmental demyelinating lesions. In addition to this unusual aetiology, this is the first report with pathological evidence of a locked-in syndrome due to lesions outside the ventral brainstem.
J Neurol Sci 1987 Sep
PMID:Reversible capsulo-tegmental locked-in state as first manifestation of multiple sclerosis. 368 27

Communicating syringes confined to the brain stem are extraordinarily rare. Two patients, presenting with signs and symptoms of cerebellar dysfunction, later developed evidence of brain-stem disease with dysarthria, nystagmus, deafness, and internuclear ophthalmoplegia. The condition of both patients had been diagnosed clinically as multiple sclerosis, but at autopsy they had a striking keyhole-shaped syrinx in the midbrain and upper pons, which communicated with the aqueduct and fourth ventricle without associated syringomyelia. In addition, both patients had marked atrophy and gliosis of the cerebellum, one with extension of the syrinx into cerebellar folia. The unique character of these lesions coupled with the similarity of the clinical features of the cases prompted us to name this disorder--"keyhole aqueduct syndrome."
Arch Neurol 1986 Sep
PMID:Keyhole aqueduct syndrome. 374 Dec 9

The neuro-otological findings are described in 3 unrelated patients who had xeroderma pigmentosum. All had impaired hearing. Routine audiometric assessment suggested that the hearing loss was of cochlear origin; brainstem evoked potentials in 2 patients and electrocochleography in 1 support this conclusion. Two adult patients had a supranuclear ophthalmoplegia. Vestibular function was mildly deranged and visual suppression of the vestibulo-ocular reflex impaired.
Brain 1985 Sep
PMID:Neuro-otological abnormalities in xeroderma pigmentosum with particular reference to deafness. 387 35

The eye movements of 100 patients with multiple sclerosis were examined clinically, including a saccade test. Thirty-four cases of internuclear ophthalmoplegia were found, of which 14 were bilateral and 20 were unilateral. Only three patients had full restriction of adduction, whereas 16 had no restriction at all. A continuous dissociated nystagmus was present in one patient only, while in 15 just a few beats of the abducting eye could be observed. In ten cases both restriction of adduction and dissociated nystagmus were lacking, and the diagnosis could only be made with the saccade test, which in all 34 patients showed a clearly visible disjunction of horizontal saccades. In 15 cases, infrared oculography was performed, which in all cases confirmed the clinical findings, and which in some cases disclosed an additional subclinical internuclear ophthalmoplegia on the opposite side.
Arch Neurol 1985 Sep
PMID:The clinical spectrum of internuclear ophthalmoplegia in multiple sclerosis. 402 28

Four cases of gaze paresis occurred in association with viral disease. In three cases the viral prodrome preceded the oculomotor disturbance. In one, gaze palsy was followed several days later by a viral syndrome. One had isolated bilateral horizontal ophthalmoplegia; another patient had motility disturbance with blepharoptosis and peripheral areflexia. Two patients had clinical evidence of brain-stem involvement: unilateral gaze paresis and gaze-evoked nystagmus in one and Parinaud's syndrome in the other. No accompanying long-tract signs or changes in mental status were present in any case. Recovery was complete in all four patients.
Am J Ophthalmol 1985 Sep 15
PMID:Gaze palsy associated with viral syndrome. 403 36

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.
Acta Neurol Scand 1985 Sep
PMID:Peripheral nerves in Fisher's syndrome. 406 Oct 56

Superior oblique muscle palsy is not only the most frequent cause of acquired vertical strabismus, anomalous head posturing and torsional diplopia, but also the most common isolated oculomotor paralysis seen in everyday ophthalmic practice. Adults typically present to the ophthalmologist with asthenopic symptoms of long duration, while children present with objective clinical signs. An understanding of the available subjective and objective examination techniques will enable the clinician to diagnose the presence of this cyclovertical muscle paralysis. There are clues from the examination that suggest a superior oblique palsy of long duration, which may save the patient a needless neurological workup and a 6-month wait before surgical options can be considered. There are also clues from the examination that suggest the presence of a "masked" bilateral superior oblique palsy. Most cases of previously diagnosed skew deviation, if examined closely, will actually turn out to be mild trochlear nerve pareses.
J Clin Neuroophthalmol 1981 Sep
PMID:Diagnosis of superior oblique palsy. 621 62

A 57-year-old woman presented with a ptosis of her left eye four weeks prior to surgery for scirrhous carcinoma of the breast. Six months later she had blurred vision in her left eye, and double vision occurred three months subsequently. The diagnosis was enophthalmus and ophthalmoplegia. The suspected diagnosis of a distant metastasis of the scirrhous carcinoma of the breast was confirmed by biopsy. The orbital symptoms were a rare first sign not only of a metastatic process, but also of the carcinoma itself.
Klin Monbl Augenheilkd 1980 Sep
PMID:[Enophthalmos with limitation of bulbar motility as a rare clinical symptom of metastasizing carcinoma of the breast (author's transl)]. 625 81


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