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)

A quantitatives assessment of the pathological changes in extraocular muscle is presented in 8 patients with chronic progressive external ophthalmoplegia (CPEO). Serial cross-sections of extraocular muscle were stained with a battery of histochemical and immunohistochemical techniques and compared with 36 normal extraocular muscles and 1 muscle from a patient who had longstanding third nerve plasy with anomalous reinnervation. Several of the patients had a striking increase in the number of ragged-red fibers in extraocular muscle, particularly if frequent ragged-red fibers also were found on limb muscle biopsy. One patients demonstrated extrajunctional acetylcholine receptor (AChR) in a small percentage of fibers, although this finding was not present in the reinnervated muscle. Numerous darkly staining central regions were noted in the ocular muscle fibers of a patient with Stephens syndrome (CPEO, peripheral neuropathy, and cerebellar disease) and in the reinnervated muscle. A patient with myotubular myopathy had single central nuclei in both limb and ocular muscle. All patients demonstrated in their extraocular muscles variation in both the size and distribution of each of the three histochemical fiber types. Extraocular muscle biopsy proved to be a safe, reliable technique. As a similar quantitative analysis is applied to the study of further patients, a better understanding of the pathogenesis of CPEO should be possible.
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PMID:Extraocular muscle biopsy in chronic progressive external ophthalmoplegia. 55 23

A 44 year old diabetic woman presented with diplopia and bilateral ptosis and mild exophthalmos. The patient was clinically euthyroid, the baseline thyroid function tests were normal, but the thyroid stimulating hormone response to thyrotrophin releasing hormone was flat. Computed tomographic scan and magnetic resonance imaging of the orbits showed left medial and inferior rectus muscle thickening, more prominent on the left side, consistent with Graves' disease. The tensilon stimulation test resulted in resolution of the ptosis and partial improvement of the ophthalmoplegia. The single fibre electromyography was consistent with a defect in neuromuscular transmission. However, forced duction test was normal and anti-acetylcholine receptor antibodies were undetectable. Significant improvement of the extraocular muscle function and resolution of the right ptosis had resulted from anticholinesterase therapy. These findings and the clinical response to therapy were consistent with concomitant euthyroid Graves' ophthalmopathy and ocular myasthenia gravis. Coexistent isolated ocular myasthenia gravis and Graves' ophthalmopathy is rare and should be considered in patients with findings of ocular myasthenia and extraocular muscle dysfunction.
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PMID:Concomitant euthyroid Graves' ophthalmopathy and isolated ocular myasthenia gravis. 209 29

Two patients (a 50-year-old and a 35-year-old men) with focal cytochrome c oxidase deficiency, manifesting ptosis and external ophthalmoplegia of 13 and 6 years' duration, respectively, were reported. Patient 1 (a 50-year-old male) had also slight muscular weakness of the proximal limb and neck flexor muscles. Diagnosis of myasthenia gravis had been made on the clinical findings including ptosis and external ophthalmoplegia, diurnal fluctuation of symptoms, and equivocal positive Tensilon test. However, waning phenomenon on repetitive nerve stimulation or elevation of titer of the anti-acetylcholine receptor antibody was not detected on both patients. Needle EMG showed mild myopathic changes. Finally, pathological and biochemical analyses of the biopsied muscles confirmed the diagnosis of mitochondrial myopathy (focal cytochrome c oxidase deficiency).
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PMID:[Two cases of mitochondrial myopathy (focal cytochrome c oxidase deficiency), long-term follow-up on a diagnosis of ocular type myasthenia gravis]. 255 82

We report a 44 year old man who developed external ophthalmoplegia and predominantly respiratory, truncal and bulbar weakness with brisk reflexes, histological evidence of an inflammatory myopathy and a high titre of acetylcholine receptor antibodies, one month after starting hydroxyurea and allopurinol for chronic myeloid leukaemia. The temporal relationship suggests a possible association between this patient's unusual neuromuscular disorder and either the chronic myeloid leukaemia or its treatment.
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PMID:Complex neuromuscular disorder in a patient with chronic myeloid leukaemia. 832

We studied a Libyan family in which five out of seven siblings have had slowly progressive limb-girdle weakness accentuated by exercise since childhood. Ptosis or ophthalmoplegia were not observed. Pronounced decremental electromyographic responses on 3 Hz stimulation indicated the presence of a defect of neuromuscular transmission. Repeated testing for acetylcholine receptor antibodies was negative. Muscle biopsy revealed tubular aggregates in 34% of the type 2 muscle fibers. Our observation illustrates the wide clinical spectrum of congenital myasthenic syndromes.
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PMID:An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family. 866 62

The cases of two elderly women with external ophthalmoplegia, generalized muscle weakness and serum anti-acetylcholine receptor antibodies, are presented. The electophysiological studies showed a myopathic pattern but no indications of myasthenia after repetitive stimulation. The edrophonium test was negative and there was no response to anticholinesterase medication. In addition, elevated serum lactic acid levels and ragged-red muscle fibres in the muscle biopsy, were observed in both patients. These findings are discussed in relation to the fact that anti-acetylcholine receptor antibodies are diagnostic of myasthenia gravis, whereas ragged-red fibres and elevated lactic acid are correlated with mitochondrial myopathies.
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PMID:External ophthalmoplegia with ragged-red fibres and acetylcholine receptor antibodies. 874 48

We report a 48-year-old female who presented limb-girdle type myasthenia gravis with inflammatory lung lesions and rheumatoid arthritis. She demonstrated a rapidly progressive muscle weakness of extremities. Neurological examination revealed facial muscle weakness, and proximal dominant limb muscle atrophy and weakness. Ptosis, ophthalmoplegia, and bulbar palsy were not observed. The edrophonium test and serum anti-acetylcholine receptor antibody were positive. The repetitive nerve stimulation showed 55% waning in the thenar muscles. From these findings, she was diagnosed as having myasthenia gravis. Plain chest X-P and body CT showed tumor-like lesions in the lung. Lung biopsy revealed the infiltration of lymphocytes. These lesions decreased in size after thymectomy and corticosteroid administration. Immediately after thymectomy, she began to have morning stiffness with pain and swelling of the finger and knee joints. RAHA test, which was negative before thymectomy, became highly positive. These findings were consistent with rheumatoid arthritis. In this patient, thymus probably played a role to suppress the development of rheumatoid arthritis.
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PMID:[A case of limb-girdle type myasthenia gravis in whom rheumatoid arthritis appeared immediately after thymectomy]. 1039 Oct 80

A 60-year-old man with a 40-year history of seronegative ocular myasthenia gravis (MG) developed generalized weakness cumulating crisis over 2 years. On admission, ophthalmoplegia, severe ptosis and marked generalized weakness were observed without autonomic symptoms and signs. The deep tendon reflexes were decreased, but were normalized after repeated muscle contractions. EMG of the abductor digiti minimi muscle showed low amplitude in compound muscle action potentials (0.6 mV), waxing phenomenon (292%) with 20 Hz repetitive nerve stimulation (RNS), waning phenomenon (34%) in 3 Hz RNS, and posttetanic facilitation (393%). Stimulated single fiber EMG showed reduced jitter with higher stimulation rates. Serum anti-P/Q-type voltage-gated calcium channel antibodies were negative with no evidence of malignancy. Sensitive assay of acetylcholine receptor antibody in serum revealed a positive titer, while conventional assay was negative. A muscle biopsy was performed and immune complex deposition was demonstrated at the endplate. A nearly complete clinical remission and normalization of electrophysiological features followed immunoadsorption and prednisolone therapy. A sensitive immunoassay of acetylcholine receptor antibodies and immunolocalization of complement at the endplate are useful diagnostic tools in cases presenting with features of myasthenia gravis and Lambert-Eaton myasthenic syndrome.
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PMID:[Myasthenia gravis with electrophysiological features of Lambert-Eaton myasthenic syndrome: usefulness of serum autoantibodies assay and neuromuscular junction biopsy]. 1042 44

A 68-year-old man was hospitalized on March 4, 1998 for disturbances in consciousness. In 1995, he had received proximal subtotal gastrectomy and reconstructive surgery of the jejunal interposition for gastric cancer. Thereafter he had been taking enough food without the habit of taking liquor. In October 1997, his short term memory was becoming gradually worse. On February 12, 1998, he suffered from numbness in the feet, and then dysphagia, unsteady gait, and diplopia developed gradually. On February 26, brain MRI showed no abnormalities. On March 3, he had a fever of 38.5 degrees C and his consciousness became unclear. Neurological examination revealed semi-coma, total ophthalmoplegia, and absence of doll's eye movement. Deep tendon reflexes were absent. The serum thiamine level was 9 ng/ml (normal range: 20-50). Brain MRI demonstrated symmetrical high intensity lesions in the periaqueductal area of the midbrain, dorsomedial nuclei of bilateral thalami, and vestibular nuclei. About 30 seconds after intravenous infusion of thiamine, his consciousness improved dramatically, but returned to semi-coma after about two minutes. Wernicke-Korsakoff syndrome usually occurs acutely. In the present case, however, the disease showed slow onset, chronic progression, and then rapid worsening after fever. Reconstructive surgery of the jejunal interposition might have caused the slow onset of Wernicke-Korsakoff syndrome, and fever might have facilitated the rapid progression of the disease. An immediate high concentration of thiamine modifies the kinetics of acetylcholine receptor ion channels, thereby maintaining wakefulness, and the level of consciousness may change dramatically.
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PMID:[A case of Wernicke-Korsakoff syndrome with dramatic improvement in consciousness immediately after intravenous infusion of thiamine]. 1068 93

Nine patients over 5 generations developed progressive bilateral blepharoptosis from 40 to 50 years of age, suggesting that they had an autosomal dominantly inherited blepharoptosis. Except for the ptosis, they had no apparent neurological symptoms: normal ocular movement, no bulbar sign and no muscle weakness in the extremities. On laboratory examination, serum creatine kinase and blood lactate levels were within normal limits, and acetylcholine receptor antibody was not elevated. Electrophysiological studies including EMG and nerve conduction velocities were normal. Muscle biopsies from gastrocnemius and palpebral muscles were nondiagnostic with no ragged-red fibers nor rimmed vacuoles. Nuclear inclusions were not recognized by electron microscopy. Since none of patients examined had mitochondrial DNA deletions and GCG repeat expansion in the poly A binding protein P2 (PABP2) gene, this familial disorder is a unique blepharoptosis with no relationship to progressive external ophthalmoplegia or oculopharyngeal muscular dystrophy with PABP2 mutation.
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PMID:[Familial chronic progressive blepharoptosis without other neurological symptoms: a new clinical entity?]. 1235 44


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