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)

Ophthalmoplegia is rarely observed in patients with amyotrophic lateral sclerosis (ALS). We describe a patient with ALS in whom ophthalmoplegia, initially appearing midway in her course, progressed to total paralysis of extraocular movements by the time of death. In addition to the usual postmortem findings of ALS in the brain stem and spinal cord, there was extensive neuronal loss and gliosis involving the caudal portions of the dorsal and intermediate components of the oculomotor nuclei, the caudal part of the trochlear nuclei, and the abducens nuclei. This represents the first detailed report of the findings in the nuclei of cranial nerves III, IV, and VI in a patient with ALS and ophthalmoplegia.
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PMID:Amyotrophic lateral sclerosis with ophthalmoplegia. A clinicopathologic study. 48 89

We describe two patients with sporadic amyotrophic lateral sclerosis (ALS), who had developed progressive external ophthalmoplegia of a predominantly supranuclear type while they survived on respirators, and displayed histopathological abnormalities both typical and atypical of ALS. Patient 1 was a 43-year-old man with ALS of 5-year duration, who had initially exhibited fulminant ALS, and remained on a respirator for 4 years. Patient 2 was a 51-year-old man with ALS of 13-year duration, who remained on a respirator for 8 years. Both patients died in a "totally locked-in state". Autopsy of both patients revealed not only histopathological abnormalities consistent with ALS, but also multisystem degeneration which involved the pontine tegmentum, substantia nigra, Clarke's dorsal nuclei and spinocerebellar tracts. In addition, Patient 2 displayed intracytoplasmic neuronal basophilic inclusion bodies which exhibited marked immunoreactivity to anti-ubiquitin antibodies. Our case reports indicate that the longer survival which is possible through the use of respirators may make one subgroup of ALS patients prone to develop atypical clinical and neuropathological features which are not observed during the natural course of ALS.
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PMID:Amyotrophic lateral sclerosis with ophthalmoplegia and multisystem degeneration in patients on long-term use of respirators. 144 18

Thirty cases of amyotrophic lateral sclerosis (ALS) supported by respirators for more than 1 year beyond respiratory failure were followed to estimate the progression of their voluntary motor impairment. The extremities were apt to be affected within two years of the onset of the disease, but complete voluntary paralysis occurred in less than half of the cases (14/30), more frequently appearing after respiratory failure. Respiratory and bulbar paralysis were closely related, and combined complete voluntary paralysis of these muscle systems was observed in 25/30 cases. Incomplete external ophthalmoplegia also increased after respiratory failure, but complete voluntary external ophthalmoplegia was rare (5/30).
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PMID:Amyotrophic lateral sclerosis patients living beyond respiratory failure. 179 73

Patients with amyotrophic lateral sclerosis (ALS), who survive longer on a life-support system, exceeding the natural course of this disease, show new features of ALS. We report here a clinico-pathologic study of a 51-year-old patient with sporadic ALS who developed progressive external ophthalmoplegia 3 years after he remained on a respirator and died 5 years later, 13 years after the onset of his illness. The external ophthalmoplegia was initially accompanied by preserved doll's eye phenomenon, which later became absent. Autopsy revealed not only degeneration of the upper and lower motor neuron systems typical of ALS, but also degeneration of the Clarke's dorsal nuclei, spinocerebellar tracts, substantia nigra and inferior olives in addition to intracytoplasmic neuronal inclusion bodies in various areas. The oculomotor and abducens nuclei were variably involved, accompanied by neurogenic atrophy of the extraocular muscles. Our case report is consistent with the idea that ALS comprises a heterogeneous group of disorders, and also indicates that long-term use of respirators may make some patients with this illness prone to developing atypical clinical and neuropathologic features which are not observed during the natural course of ALS.
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PMID:Development of ophthalmoplegia in amyotrophic lateral sclerosis during long-term use of respirators. 208 31

Oculomotor disorders have been considered to be one of the negative symptoms in motor neuron disease (MND). However, recently, ophthalmoplegia, abnormal Bell's phenomenon and disturbance of pursuit movement have been reported. We tried to evaluate 32 patients with MND (19 males and 13 females; age, 35 to 77 years; 52.4 +/- 10.1 years) by bedside examination and electro-oculography (EOG) using an eye tracking method. Twenty-three of them were classified as amyotrophic lateral sclerosis (ALS) and seven as bulbospinal muscular atrophy, and two were unclassified. One hundred healthy persons for bedside examination and twenty-two for EOG were investigated as controls. Findings by bedside examinations were as follows; 1) Slight limitations of upward only, up & downward and upward & horizontal gaze were observed in 5 cases (15.6%), 1 case (3.1%) and 1 case (3.1%), respectively. 2) Incomplete convergence was observed in 11 cases. (34.4%) 3) Horizontal gaze nystagmus was observed in 6 cases. (18.8%) 4) As regards the frequency of limitation of upward gaze and incomplete convergence, there were no statistically significant differences from those in controls. Electrooculographic results were: 1) square wave jerks (SWJs) were recorded in 3 cases. (9.4%) 2) Amplitude ratio of saccade was significantly higher in MND than that in controls with the risk less than 0.1%. 3) The degree of ocular dysmetria was significantly higher in MND than that in controls with the risk less than 0.5%. These abnormalities were not directly related to suffering period. Although the mechanism is not known, several reports of the effectiveness of thyrotropin releasing hormone (TRH) in ALS were recently published.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Analysis of oculomotor disorders in motor neuron disease]. 251 55

To determine whether focal cytochrome c oxidase (CCO) deficiency characterized by scattered fibers with absent CCO activity among normal fibers was a specific finding for mitochondrial myopathies, we studied 389 muscle biopsies from various neuromuscular diseases other than mitochondrial myopathies. Focal CCO deficiency was found in 14 biopsies: 5 of 26 patients with myotonic dystrophy, 3 of 19 with nemaline myopathy, 1 of 7 with distal myopathy with rimmed vacuole formation, 3 of 22 with limb-girdle muscular dystrophy, 1 of 9 with amyotrophic lateral sclerosis, one of 79 with Duchenne muscular dystrophy. Focal CCO deficiency is known to be a crucial finding for chronic progressive external ophthalmoplegia, but it can also be seen in a variety of other neuromuscular disorders, probably as a secondarily induced phenomenon.
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PMID:Focal cytochrome c oxidase deficiency in various neuromuscular diseases. 254 31

A clinicopathological report is presented of a British male, aged 59 years, who died after an illness of 10 years, manifested by progressive respiratory failure, ptosis, and dysphagia. At no time was there evidence of ophthalmoplegia, Parkinsonism or dementia. At necropsy the main finding was of neurofibrillary tangles in the neurons of the pontine and medullary reticular formation, with particularly severe involvement of the nucleus ambiguus, dorsal motor nucleus of the vagus and nucleus tractus solitarius. Morphologically, by light and electron microscopy and immunostaining, the tangles were similar to those of other neurofibrillary degenerative diseases. Although similar in some respects to progressive supranuclear palsy and amyotrophic lateral sclerosis of the Guam type, the combination of clinical and neuropathological features suggest that this is a distinct disease entity.
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PMID:Progressive medullary failure associated with neurofibrillary degeneration. 273 35

A sporadic case of spinocerebellar degeneration with prominent involvement of the motor neuron system is reported. A Japanese male without contributing family history, developed cerebellar ataxia at the age of 52, followed by generalized amyotrophy and ophthalmoplegia, and died aged 58. The clinical findings were pathologically verified as degeneration of the spino-ponto-cerebellar system and the motor neuron system, the latter almost identical to those of amyotrophic lateral sclerosis. Additional subclinical changes were found in the dentate nucleus and substantia nigra. Brain-stem nuclei subserving eye movements were well preserved, suggesting a supranuclear basis for the ophthalmoplegia. This unusual combination of system degenerations has on rare occasions been reported in the heredofamilial cerebellar disorders. As a sporadic case, however, this may be the first autopsy case of spinocerebellar degeneration with severe concurrent involvement of the motor neuron system.
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PMID:Spinocerebellar degeneration with prominent involvement of the motor neuron system: autopsy report of a sporadic case. 372 37

It has generally been assumed that the oculomotor system is not involved in amyotrophic lateral sclerosis (ALS). However, reports from the literature and recent experience with patients indicate that there are oculomotor abnormalities in some ALS patients. These appear to fall into two main categories. One group of patients has signs that reflect damage or degeneration in cortico-oculomotor pathways. These patients have problems in generating voluntary saccades, convergence and pursuit eye movements. It should be possible to corroborate deficits in ocular pursuit in these patients with deficits in visual suppression of the vestibulo-ocular reflex (VOR) and in optokinetic nystagmus (OKN). A second group of patients, much less common than the first, has a more global type of ophthalmoplegia, probably reflecting a loss of neurons in and around the ocular motor nuclei. There are probably also patients with mixed types of involvement. Testing the vestibulo-ocular reflex (VOR) in conjunction with other tests of visual-oculomotor function should help in identifying the deficits. The relative incidence of the various types of deficits is not known and is a subject for study. It would also be of interest to correlate the changes that are present in the oculomotor system of patients with ALS with deficits in other parts of the somatic motor system.
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PMID:Eye movements in amyotrophic lateral sclerosis. 658 14

Two patients, one with ataxia, internuclear ophthalmoplegia, muscle weakness, atrophy, fasciculations, and bilateral Babinski's signs, the other with dysarthria, dysphagia, muscle weakness, atrophy, fasciculations, and hyperreflexia, had elevated serum calcium and parathyroid hormone levels, establishing the diagnosis of primary hyperparathyroidism (HPT). Removal of a parathyroid adenoma in one patient and three hyperplastic parathyroid glands in the other resulted in remission of the hyperparathyroidism but left both patients with residual neurological damage. Postmortem examination of the second patient showed typical features of amyotrophic lateral sclerosis. The findings in these patients show that hyperparathyroidism may be associated with signs of severe central nervous system disease and that patients with unexplained neurological signs or symptoms should be checked for hyperparathyroidism.
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PMID:Severe neurological disease associated with hyperparathyroidism. 673 92


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