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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of this report is to alert the ophthalmologist and neurologist to the fact that intermittent ocular symptoms may herald the onset of chronic progressive external ophthalmoplegia and therefore resemble the weakness produced by myasthenia gravis. In addition, chronic progressive external ophthalmoplegia may complicate the course of Charcot-Marie-Tooth disease.
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PMID:Charcot-Marie-Tooth disease mimicking ocular myasthenia gravis. 69 78

Until such time as results of more rigorous studies are available, the morbidity rates for thyroid dysfunction cited here must suffice. The 1955 to 1956 outpatient "incidence" for England and Wales was 1.1 per 1,000 for thyrotoxicosis and 1.7 per 1,000 for myxedema (18). United States in-patient "incidence" for 1971 was 0.16 per 1,000 for thyrotoxicosis and 0.13 per 1,000 for myxedema (25). The 1935 to 1967 average annual incidence of Graves' disease for females in Olmsted County, Minnesota, was 30.5 per 100,000 (10). Well over 50% of hyperthyroid patients have clinical evidence of mild or moderate muscle weakness. Usually this weakness is proximal, and electro-myography and muscle biopsy confirm the existence of myopathic process (Table 11). Severe muscular weakness of acute onset is relatively rare and is encountered in approximately 1% of hyperthyroid patients (11,17,40). Ophthalmoplegia and psychosis are reported 4% and 2% of patients, respectively (17). Myasthenia gravis, although well publicized, is estimated to occur in less than 1% of patients (3,30). TPP is virtually nonexistent in the West; in the Orient it is reported in 2 to 8% of hyperthyroid patients and is 20 to 60 times more frequent in the hyperthyroid male than in the hyperthyroid female (Table 12). The neurologic symptomatology of myxedema is more extensive, and agreement among the various series is poor. The only unselected series addressing itself to neuromuscular manifestations of myxedema that is suitable for citation is that of Scarpalezos et al. (36). This comprehensive study was done without apparent patient selection, and it reported 2% of patients with definite carpal tunnel syndrome, 6% with myopathy, and 18% with polyneuropathy (Table 13). Reported percentages of hypothyroid patients found to have neurologic manifestations of cerebellar dysfunction are extremely diverse: ataxic gait was reported in 5 to 32% (6,7,12,27) of patients and dysdiadochokinesia in 6 to 52% (7,12,27). Psychosis is encountered in 2 to 5% (6,14,17,27,39) of myxedematous patients, memory loss in 23 to 55% (6,14,27), and coma in less than 1% (27).
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PMID:Neurologic complications of thyroid dysfunction. 74 45

The authors describe a case of myopathy characterized physically by limb weakness, eyelid ptosis, voluntary and reflex paralysis of vertical movements of gaze, and loss of deep tendon reflexes; and morphologically by the abnormal presence of centrally located nuclei in muscle fibers and type 1 fiber hypotrophy. The establishment in this case study of two particular findings--the probably nuclear or supranuclear ophthalmoplegia and the apparently impaired nuclear migration from the center of the muscle fiber toward its periphery--supports the hypothesis of a neuromuscular disorder whose level of severity depends on the degree of difficulty in the nuclear migration itself. This would be linked to a reduction in central nervous system influence.
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PMID:Centronuclear myopathy: possible central nervous system origin. 75 9

Two brothers, aged 11 years 6 months and 2 years 3 months, with psychomotor and growth retardation, episodes of weakness, ataxia, ophthalmoplegia, and elevated levels of blood pyruvate were shown to have a deficiency in the pyruvate dehydrogenase complex (PDH). When they ate a diet high enough in fats to cause ketonemia but not acidosis, there was a fall in blood pyruvate levels, a decrease in the frequency and severity of the episodes of neurological deterioration, an increased rate of growth and development in the younger brother, and increased strength and endurance in the older one. The possibility of dietary treatment makes the early diagnosis of PDH deficiency more important. Determination of blood pyruvate and lactate levels following a standard glucose meal (glucose-pyruvate test) appears to be the most reliable screening test for this condition.
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PMID:Ketonic diet in the management of pyruvate dehydrogenase deficiency. 82 10

A case of progressive external ophthalmoplegia is described, in which the onset of the illness was at 28--30 years, with fatigability and muscular pains in the lower limbs as presenting symptoms. At 36--37 years weakness of the mimic muscles also appeared and fatigability and muscular pains spread to the upper limbs: EMG examination showed signs of light myopathic involvement of the shoulder-girdle muscles, so that a muscular biopsy was performed (right deltoid). Histoenzymologic studies showed the presence of generally atrophic dark fibres, which can be brought about to red-ragged fibres. Ultrastructural study showed bizarrely shaped mitochondria, with dense matrix and circular and confluent cristae, which were found in fibres with plenty of indifferent sarcoplasm and with anomalies in myofibrils. No mitochondrial inclusions were seen.
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PMID:A case of progressive external ophthalmoplegia (Kiloh-Nevin type) with abnormal mitochondria. Clinical, histochemical and ultrastructural findings. 90 67

A 7-year-old girl developed bilateral ptosis, total ophthalmoplegia, and fixed, dilated pupils associated with bulbar paralysis and generalized weakness six days after she sustained a compound supracondylar fracture of the right humerus. Nerve conduction studies showed a facilitated muscle action potential after repetitive nerve stimulation. Blood cultures were negative. Although the wound site appeared noninfected, the wound was explored. Clostridium botulinum, type B, grew from cultures taken from the depths of the wound. The patient recovered fully with supportive care, and EEG abnormalities present during the acute phase of the illness disappeared.
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PMID:Ocular involvement in wound botulism. 91 Dec 50

Deficient abduction can be due to both innervational deficiencies and/or mechanical restrictions. Innervational deficiencies include lateral rectus weakness or paralysis, myasthenia gravis, progressive external ophthalmoplegia nd Duane's syndrome with aberrant innervation to the lateral rectus muscle. Mechanical causes include restrictions on the medial side of the globe (a tight medical rectus due to endocrine ophthalmopathy, a contractured medial rectus muscle as a result of a lateral rectus paralysis, excessive resection of the medial rectus muscle, scarring and hemorrhage due to multiple previous operations upon the medial rectus), as well as a posteriorly inserted lateral rectus. This latter condition may result from a traumatically disinserted lateral rectus muscle, an excessively recessed lateral rectus muscle or a lateral rectus that has slipped from its attachment following strabismus surgery. Insufficient force for full abduction is caused by posterior insertion of the lateral rectus. The diagnosis of these various conditions is considered with reference to the forced duction, force generation and saccadic velocity tests. The treatment of these different causes of abduction deficiency is discussed noting that the approach to treatment depends upon the etiology of the abduction deficiency.
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PMID:The diagnosis and treatment of abduction deficiencies. 93 51

Four patients with ptosis, external ophthalmoplegia, and ragged-red fibers on muscle biopsy were found to have decreased ventilatory responses to hypoxia and hypercapnia. Respiratory muscle weakness was not responsible for these findings since these responses were normal in muscle disease control patients. An altered metabolic state also can cause diminished ventilatory response, but overall oxygen consumption data in the ragged-red fiber patients were normal. The decreased ventilatory responses may be clinically significant because two of the ragged-red fiber patients had episodes suspicious of hypoventilation with poor response to hypoxia.
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PMID:Depressed ventilatory response in oculocraniosomatic neuromuscular disease. 94 69

For the first time in Germany cases of a "centronuclear myopathy" are described in a 14-year-old boy and his 18-year-old sister. First symptoms in both patients appeared at 4 to 5 years of age with a "sleepy facial expression", clumsy gait and rapid fatigue. Within few years the disease progressed to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa and areflexia. Weakness and atrophy were most pronounced in the distal muscles of the lower extremities. Both patients were free of epilepsy and the EEG recordings were normal. Motor and sensory nerve conduction velocities were normal. Repetitive stimulation of nerves revealed a normal transmission from nerve to muscle. Muscle biopsy showed a type I muscle fiber hypotrophy and a type II muscle fibre hypertrophy in addition to a predominance of type I fibres. Both fibre types showed central nuclei, sometimes appearing as chains in longitudinal sections. In most cells with central nuclei there persists a very small pericentral zone free of myofibrils but with increased activity of oxidative enzymes and phosphorylase. 2--3% of muscle fibres in cross sections showed a decreased of absent enzyme activity in the most peripheral fibre zone. Electron microscopy showed evidence of a centrally distinct myofibrillar disintegration. The father of both children had a ptosis at least from the 20th year of age. 5 years later generalized progressive muscle atrophy was recorded. Aged 51 years he died of pneumonia. Though not proved most probably the father suffered from the same disease as the children, pointing to an autosomal dominant inheritance in this family. The disease, according to the literature, seems to be genetically heterogeneous. The clinical picture seems to be independent of the mode of inheritance. Our patients showed a relatively rapid progression of symptoms. Pathogenetically the "centronuclear myopathy" may result from a disturbance of correlated nerve-muscle structures starting during early fetal life.
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PMID:[Centronuclear myopathy with autosomal dominant inheritance(author's transl)]. 115 Feb 40

Six members of a family--the mother, three daughters, and two sons--have a unique syndrome consisting of congenital external ophthalmoplegia, bilateral facial weakness, lingua scrotalis, progressive chorioretinal sclerosis, and an intellectual deficit. Bilateral ptosis and almost complete ophthalmoplegia were found in three of the family members, bilateral facial weakness in two, and Parinaud's syndrome and convergence paresis in one. Electromyographically, a lesion of the lower motor neurons--"nuclear ophthalmoplegia"--was found. Three members of the family had different stages of progressive chorioretinal sclerosis and two had myopia. All the family members had lingua scrotalis, and all of those who had ophthalmoplegia had low IQs. Electroretinographic reactions were subnormal or absent in patients with chorioretinal degeneration. It was concluded that an extensive abiotrophic process, genetically conditioned, was a possibility.
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PMID:Progressive nuclear ophthalmoplegia associated with mental deficiency, lingua scrotalis, and other neurologic and ophthalmologic signs in a family. 116 9


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