Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied prospectively 105 unselected patients complaining of ptosis and/or diplopia due to extrinsic ophthalmic muscle palsies without other neurological signs. All patients underwent the same diagnostic protocol. The presenting symptoms were: ptosis, 35 patients (33%); diplopia, 27 patients (26%); ptosis and diplopia, 43 patients (41%). The oculomotor nerve was most frequently involved, followed by the abducens nerve. The final diagnoses were: ocular myasthenia, intracranial and/or orbital pathology, thyroid ophthalmopathy, diabetic ophthalmoplegia, mitochondrial myopathy, oculopharyngeal muscular dystrophy. In 26 patients (25%) the cause remained undetermined. Our study confirms the difficulty of establishing an aetiological diagnosis in patients with isolated ocular palsies.
 ...
PMID:Ocular palsies in the absence of other neurological or ocular symptoms: analysis of 105 cases. 940 41

Multiple mtDNA deletions have been reported to be a cause of inherited recurrent myoglobinuria. We report a 57-year-old man with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions who developed acute rhabdomyolysis provoked by alcohol. A repeated alcohol intake resulted in a 57-fold increase in serum myoglobin. Patients with mitochondrial myopathy and multiple mtDNA deletions, regardless of associated phenotype and mode of inheritance, may develop rhabdomyolysis.
 ...
PMID:Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. 944 1

In the literature there are only 3 cases of women with Kaerns-Sayre Syndrome (KSS) who delivered a healthy child. Our case is the fourth. The purpose of the report is to describe a 30-year old woman presenting typical clinical features of KSS, namely progressive external ophthalmoplegia, pigmentary retinal degeneration and onset of the disease before the age of 20. It was also associated with cardiac conduction defects, neurological symptoms and variety of endocrine and metabolic disorders. On muscle biopsy (m. biceps brachii) mitochondrial abnormalities on electron microscopy were seen. KSS is a form of mitochondrial myopathy with specific clinical features. Recognition of mtDNA deletion as the genetic basis of KSS confirmed the validity of clinical criteria.
 ...
PMID:[A case of Kearns-Sayre syndrome]. 946 30

Two cases of chronic progressive external ophthalmoplegia were described. Both of them presented with progressive bilateral ptosis and gradual impairment of ocular mobility. One of the patients had abnormal cerebrospinal fluid protein level. Another patient had muscle biopsy which was compatible with mitochondrial myopathy. Other possible causes of chronic progressive external ophthalmoplegia had been excluded by appropriate investigations. Chronic progressive external ophthalmoplegia is now considered as one type of mitochondrial diseases. Missed diagnosis of this syndrome is common in clinical practice.
 ...
PMID:Chronic progressive external ophthalmoplegia. 947 Mar 33

We investigated endocrine function in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonus epilepsy associated with ragged-red fibers (MERRF), and chronic progressive external ophthalmoplegia (CPEO). Hypothalamic-pituitary function was impaired in all three patients with MELAS or MERRF, but none of four with CPEO. A MELAS patient with dwarfism and impaired adolescent development had decreased growth hormone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH). A MERRF patient had emaciation and low adrenocorticotropin. A patient with mitochondrial encephalomyopathy transitional between MELAS and MERRF showed delayed, blunted LH and FSH response to LH-releasing hormone stimulation. We concluded that patients with mitochondrial encephalomyopathies, especially MELAS or MERRF, are likely to have hypothalamic-pituitary dysfunction.
 ...
PMID:Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies. 970 89

A 64-year-old female had slowly progressive bilateral external ophthalmoplegia, blepharoptosis and muscle weakness of the extremities since age 30. Laboratory examination showed an elevation of serum CK level. Biopsied specimens from the left biceps and the left orbicularis oculi muscles revealed myopathic change with infiltration of mononuclear cells. In addition, some ragged-red fibers and a few cytochrome c oxidase-negative fibers, which are characteristic of mitochondrial myopathy, were observed. Polymerase chain reaction analysis of mtDNA in the muscles showed multiple mtDNA deletions. On administration of prednisolone (initial dose, 60 mg/day), blepharoptosis and muscular strength improved transiently and serum CK level was normalized but external ophthalmoplegia was not improved. We diagnosed our case as chronic progressive external ophthalmoplegia (CPEO). This is the first report of CPEO presenting as inflammatory myopathy.
 ...
PMID:[A case of chronic progressive external ophthalmoplegia presenting as inflammatory myopathy]. 971 Nov 19

Five patients with chronic progressive external ophthalmoplegia (CPEO) and 27 healthy controls were examined by near-infrared spectroscopy (NIRS) for the noninvasive and direct quantitative measurement of muscle oxygen consumption and forearm blood flow. NIRS measurements were obtained in rest and during static isometric handgrip exercise at 10% of the maximum voluntary contraction (MVC) force. A significantly decreased oxygen consumption at rest as well as during exercise was found in patients with CPEO. Our results suggest that NIRS is able to discriminate between CPEO patients and healthy controls, which makes NIRS a valuable tool in the diagnostic workup of patients suspected to have a mitochondrial myopathy.
 ...
PMID:Quantitative near-infrared spectroscopy discriminates between mitochondrial myopathies and normal muscle. 1051 8

Five patients with chronic progressive external ophthalmoplegia (CPEO) and 27 healthy controls were examined by near-infrared spectroscopy (NIRS) for the non-invasive and direct quantitative measurement of muscle oxygen consumption during rest as well as during static isometric handgrip exercise at 10% of their maximum voluntary contraction. In patients with CPEO, we found a significantly decreased oxygen consumption during exercise, but more remarkably already during rest. Our results suggest that NIRS is able to discriminate between CPEO patients and healthy controls, which makes NIRS a promising tool in the diagnostic work-up of patients suspected of a mitochondrial myopathy.
 ...
PMID:Quantitative measurement of oxygen consumption and forearm blood flow in patients with mitochondrial myopathies. 1065 62

Five unrelated patients harboring the A3243G mutation in the mitochondrial DNA (mtDNA) but presenting with different clinical phenotype were studied for their percentage of mutation at the single muscle fiber levels. One patient had a clinically and pathologically defined Leigh syndrome (LS), two showed mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), another showed progressive external ophthalmoplegia (PEO), and the other showed mitochondrial diabetes mellitus (MDM). The mutation load was greater in the muscle from the patient with LS (92%), who showed more than 80% even in the non-ragged red fibers (RRF) and also presented the highest proportion of RRF. The patients with MELAS had lower mutation levels as well as a lower proportion of RRF, and these two parameters were even lower in the PEO and MDM patients. These results were consistent with the concept that differences in the mutation load and in the somatic distribution of the mutation among different cells and tissues are responsible for the differences in phenotypical expression of the disease.
 ...
PMID:Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes. 1067 26

A 27-year-old man was admitted to hospital because of severe cardiac failure. Investigation revealed dilated cardiomyopathy with a left ventricular ejection fraction of 15-20%. During adolescence the patient had been investigated for growth retardation and he also had progressive external ophthalmoplegia. There had been no symptoms of cardiac disease until 2 weeks before admittance. An endomyocardial biopsy showed cardiomyocytes deficient in cytochrome c oxidase (COX) in a mosaic pattern. A skeletal muscle biopsy showed mitochondrial myopathy with COX-deficient ragged-red fibers. Molecular genetic analysis revealed a heteroplasmic, 3.8-kb, mitochondrial DNA (mtDNA) deletion in heart and muscle. PCR-based quantification of the proportion of mtDNA with deletion showed 47% mutated mtDNA in the myocardial biopsy and 68% in muscle. In spite of treatment, the condition deteriorated and the patient died 5 days after admittance. This case demonstrates that mtDNA deletions may occasionally be the cause of severe dilated cardiomyopathy, and that morphological and molecular genetic diagnosis may be obtained by endomyocardial biopsy.
 ...
PMID:Fatal dilated cardiomyopathy associated with a mitochondrial DNA deletion. 1111 Nov 48


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>