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 fifth case of oculomasticatory myorhythmia associated with cerebral Whipple's disease is reported. This peculiar abnormal movement has never been described in association with cerebral dysfunction other than Whipple's disease. The present case exhibited rhythmic convergence of the eyes and synchronous (1-2 Hz) contractions of the masticatory muscles and of the proximal and distal skeletal muscles. These abnormal movements occurred 13 years after the beginning of the disease. They were persistent and unchanged until the death of the patient 3 months later. No treatment was effective to suppress the involuntary movements (clonazepam, baclofen, antibiotics). Associated neurological signs included global supranuclear ophthalmoplegia, facial weakness, bilateral ptosis, absent gag reflex, and intellectual deterioration.
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PMID:Oculo-facio-skeletal myorhythmia as a cerebral complication of systemic Whipple's disease. 246 61

We reported a case with Kennedy-Alter-Sung syndrome (KAS) associated with bilateral external ophthalmoplegia. The patient had movement disturbance of bilateral infra-oblique muscles. The doll's eye phenomenon was not noted. It was suggested that the external ophthalmoplegia was due to the involvement of the oculomotor nucleus that innervated infra-oblique muscle. The serum levels of testosterone and gonadotropin were high, suggesting that the feminization of KAS patients was caused by androgen insensitivity. The feminization of KAS patients is similar to the incomplete form of testicular feminization syndrome except that they do not have feminization of genitals. Therefore, we proposed that abnormalities of androgen receptors might play a role in the pathogenesis of KAS. Fluoxymesterone therapy significantly improved the muscle weakness of the extremities of the patient, even though the therapeutic efficacy was shown temporarily. The therapeutic efficacy of fluoxymesterone for muscle weakness supports our hypothesis.
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PMID:[A case of Kennedy-Alter-Sung syndrome associated with external ophthalmoplegia--therapeutic efficacy of fluoxymesterone]. 250 Jan 44

A 19-year-old man born with thyroprivic hypothyroidism, due to congenital development defect, manifested hypogonadism, stunted growth, chronic progressive external ophthalmoplegia (CPEO), diffuse muscle weakness and wasting, right bundle branch block, cerebral atrophy. Muscle biopsy showed mitochondrial abnormalities. Biochemical investigations on muscle disclosed partial (50%) cytochrome c oxidase deficiency, 58% decrease of cytochrome aa3 and 41% decrease of cytochrome b. Enzyme-linked immunosorbent assay showed decrease of the immunologically active enzyme protein.
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PMID:Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency. 254 Feb 84

A 41-year-old female of mitochondrial myopathy characterized by recurrent paralytic ileus and atonic bladder with the evidence of peripheral nerve involvement was described. This patient was admitted to our hospital because of the episode of paralytic ileus and atonic bladder at the age of 40 and 41 (1987). She had noticed sporadic headache from 1967, constipation from 1977, tinnitus and hearing disturbance from 1984. One month after her second admission in 1987, her symptoms of paralytic ileus and atonic bladder gradually disappeared. She was then transferred to the department of neurology for the evaluation of underlining neurological disorders. Neurological examination revealed dementia, oro-lingual dyskinesia, and proximal muscular weakness. However, none of the following signs or symptoms were observed; Ophthalmoplegia, blepharoptosis, retinitis pigmentosa, myoclonus, cerebellar ataxia, sensory disturbance, and orthostatic hypotension. Deep tendon reflexes were normal. Planter responses were flexor. Pyruvate and lactate were elevated in both serum and cerebrospinal fluid. Brain CT scan displayed moderate cerebral atrophy and basal ganglia calcifications. EMG was normal except for the external anal sphincter muscles which showed a denervation pattern. Motor nerve conduction velocity was normal in the right median and the right peroneal nerves. Sensory nerve conduction velocity was also normal in the right median and the right sural nerves. However, the amplitude of sensory potential was low in both these nerves. Atonic type of neurogenic bladder was noted on cystometry. There was a lack of voiding desire. The number of active sweat glands iontophoretically stimulated by pilocarpine was reduced. The most prominent feature of the muscle biopsy (the left biceps brachii) was myopathic changes with ragged-red fibers.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Paralytic ileus and atonic bladder in a case of mitochondrial encephalomyopathy--electrophysiological, chemical and pathological study with evidence of the peripheral nerve involvement]. 255 55

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

A 19-year-old man with chronic progressive external ophthalmoplegia with deleted mitochondrial DNA was reported. Neurological examination revealed bilateral external ophthalmoplegia, hearing loss of sensorineural type, short stature, mental retardation, muscle atrophy and weakness in the proximal muscles. Lactate and pyruvate levels were elevated in both serum and cerebrospinal fluid (CSF). Protein concentration was slightly increased in CSF. Electromyogram showed myopathic changes on all the muscles examined. Ragged-red fibers were found in biopsied rectus femoris muscle, stained with modified Gomori trichrome. Scattered cytochrome c oxidase deficient fibers were encountered. The computed tomography of the brain showed mild cerebral and cerebellar atrophy without any abnormal calcification or hypo-lucency. Southern blot analysis of the mitochondrial DNA (mtDNA) extracted from the patient's muscle revealed mixed population of mtDNA, consisting of the normal one and partially deleted one. The size of the deletion was about 4.5-kilobase. The region included the sequences coding for at least four subunits of Complex I, one subunit of Complex IV, two subunits of Complex V and five tRNAs. There may be a "hot area" on the mitochondrial genome that is more prone to be deleted than other regions of mtDNA. Southern blot analysis is usefull for the diagnosis of KSS or CPEO.
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PMID:[Chronic progressive external ophthalmoplegia (CPEO) with deleted mitochondrial DNA]. 259 47

Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional features of the Kearns-Sayre syndrome. Of the 42 patients without detectable muscle mtDNA deletions, 10 had progressive external ophthalmoplegia and limb weakness, 2 had the Kearns-Sayre syndrome, 11 had limb weakness without extraocular involvement, and 19 had multisystem disorders predominantly affecting the central nervous system. Only 2 patients with mtDNA deletions had clinically affected relatives, compared with 10 of those without deletions. In the 4 patients with polarographic defects exclusively involving complex I (NADH coenzyme Q reductase), the deleted protein-coding genes were confined to those for complex I subunits. Thirteen other patients with apparently identical deletions had variable clinical and biochemical features. Immunoblots of complex I polypeptides from patients with deletions were either indistinguishable from controls or showed only a mild generalized decrease in all identifiable subunits.
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PMID:Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. 260 80

Four typical cases of the Miller Fisher syndrome with external ophthalmoplegia, ataxia and generalized areflexia but no muscular weakness or sensory impairment of the limbs are reported. The nosological position of this disorder is reviewed.
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PMID:[Miller Fisher syndrome: a report of 4 cases and review of the nosologic position]. 261 16

Wernicke encephalopathy is a disorder caused by a deficiency of thiamine which is a cofactor of several metabolic enzymes. The symptoms include mental confusion, ataxia, and ocular signs in adults, infants, and children. Patients often have somnolence and weakness combined with ophthalmoplegia. Alcoholics are the best known risk group; however, Wernicke encephalopathy occurs in poorly nourished patients of all ages. We present 2 children with malignant disease in whom Wernicke encephalopathy--an underdiagnosed and potentially fatal, but preventable and treatable disease--was diagnosed postmortem.
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PMID:Wernicke encephalopathy--a preventable cause of death: report of 2 children with malignant disease. 267 84

A case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome) with corneal endothelial abnormality is reported. A 22-year-old woman had retinitis pigmentosa, external ophthalmoplegia, complete heart block, ataxia, muscle weakness, dementia, sensorineural hearing loss, and was of short stature. Renal dysfunction, diabetes mellitus, and amenorrhea were also observed. Biopsy revealed decreased cytochrome c oxidase (complex IV) activity in muscle mitochondria. The corneal endothelium examined by specular microscope showed decreased cell density, severe polymegathism, and pleomorphism in both eyes. To our knowledge, this is the first report concerning primary corneal endothelial abnormality in a case with mitochondrial encephalomyopathy. The corneal endothelium is one of the tissues that could be affected by the enzyme deficiency present in this disease.
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PMID:Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). 274 82


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