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Clinical, immunological and genetic parameters were studied in 73 Jamaican patients with myasthenia gravis (MG). The reported bimodal clinical distribution of females with early onset of disease and males with late onset was not observed. The female to male ratio was 2:1. The most frequent manifestations of disease were ptosis (84.9%), general muscle weakness (68.5%), bulbar symptoms (41.1%) and diplopia (32.9%). Unusual presenting features such as unilateral ptosis, recurrent chest infection and stumbling while walking resulted in diagnosis being missed in 5.8% of cases. The sensitivity of radioimmunoassay in detecting acetylcholine receptor antibody (AchR-Ab) in sera from a subgroup of 35 MG patients was 71.4% whilst that of the ELISA was only 14.2%. There was no correlation between concentration of AchR-Ab and severity of disease. Similarly, there was no association between HLA-type, thymic pathology and course of disease. HLTV-I could not be implicated in the pathogenesis of this disease. There was a paucity of other associated autoimmune conditions among MG patients. Thymectomy was an important therapeutic modality in that improvement was observed in 22 cases and remission in 11.
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PMID:Myasthenia gravis in Jamaica. Clinical, immunological and genetic studies. 178 95

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

Fourteen Jewish patients from 10 families of either Iraqi or Iranian origin with congenital myasthenia had associated facial malformations which included an elongated face, mandibular prognathism with class III malocclusion and a high-arched palate. Other common features were muscle weakness restricted predominantly to ptosis, weakness of facial and masticatory muscles, and fatigable speech; mild and nonprogressive course; response to cholinesterase inhibitors; absence of antibodies to acetylcholine receptor; decremental response on repetitive stimulation at 3 Hz but no repetitive compound muscle action potential in response to a single nerve stimulus. This newly recognized form of congenital myasthenia with distinctive ethnic clustering and associated facial malformations is transmitted as an autosomal recessive disorder. The facial abnormalities may be secondary to the neuromuscular defect or may be primary and unrelated. Further studies are needed to elucidate the defect in neuromuscular transmission responsible for the pathogenesis of this syndrome.
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PMID:Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome. 224 97

It is well-known that anesthesia and surgery may precipitate muscle weakness in the patients with myasthenia gravis and some patient were not recognized as myasthenia until such episodes. A 74-year-old woman with increased sensitivity to pancuronium who, in spite of the very high titer of anti-acetylcholine receptor antibodies, showed no clinical manifestation of myasthenia gravis before operation. And computed tomographies revealed the presence of a thymoma in her anterior mediastinum. Although we have performed extended thymectomy, ptosis appeared 4 month after the operation. This patient might be called as "premyasthenic state" or "subclinical MG".
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PMID:[A case of thymoma with an increased sensitivity to pancuronium]. 239 88

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 37-year-old man suffered from photosensitivity and urinary casts with serological findings of positive anti-DNA antibody, LE cells and false positive VD reaction in September of 1979. He developed general fatigue, dyspnea and diplopia with ptosis of bilateral eyelids in November of 1979, which were improved by the anti-cholinesterase drugs. In January of 1980, he had an attack of unconsciousness and his chest X-ray film showed several tumorous shadows in the anterior mediastinum and middle and lower lung fields. Treating him with chemotherapy of VEMP, the pulmonary shadows disappeared. However, he developed severe muscle weakness with an elevated CPK (430 mU/ml) and a myogenic EMG pattern along with an increased anti-acetylcholine receptor antibody (243 n Mol/l), dysphagia and eyelid-ptosis. He died in September of 1985 and his autopsy disclosed a malignant thymoma of mixed type in the anterior mediastinum and an atrophy and fibrosis with infiltration of inflammatory cells in the striated muscles.
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PMID:[An autopsy case of a patient with myasthenia gravis who showed various symptoms of collagen diseases and complicated with malignant thymoma]. 281 7

The diagnosis of myasthenia gravis (MG) can usually be made on the basis of the characteristic clinical history and signs, improvement by the use of anticholinesterase drugs, decremental responses in repetitive nerve stimulations, and assay of anti-acetylcholine receptor (AchR) antibody titers. We, however, have difficulty to make diagnosis of ocular MG patients with mild symptoms because muscular weakness is minimal and ancillary tests are negative. In the present communication, we report clinical usefulness of a hot test to provoke ptosis by warming the eyelid in ocular MG patients with minimal fatigability. Patient 1, a 27-year-old housewife, developed drooping of the right upper eyelid in May 1985. The ptosis was absent in the morning, but became apparent and worsened later. Neurological examination carried out 3 months after the onset revealed mild right ptosis, but fatigability of the levator palpebrae superioris could not be elicited by the provocative procedures such as sustained upward gaze or repeated opening and closing of eyelids. Both Tensilon and cold tests yielded negative responses. Repetitive nerve stimulations produced no decremental responses. Titers of anti-AChR antibody and antistriational antibody were within normal limits. In order to find a possible neuro-muscular blockade, we warmed the right upper eyelid by applying hot water of about 45 degrees C in a vinyl bag for 3 minutes. The hot test worsened the right ptosis and induced mild left ptosis. Tensilon administration reversed the eyelids to the previous position. Patient 2 was a 12-year-old boy with a typical history and clinical signs of ocular MG. His symptoms remitted spontaneously without any medication 3 weeks after the onset.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Diagnostic usefulness of a hot test in patients with mild ocular myasthenia gravis]. 342 58

We are reporting the unique coexistence of two distinct neuromuscular diseases, myotonic dystrophy and the juvenile form of myasthenia gravis, occurring in one family. A 16-month-old previously healthy female presented with a two month history of bilateral varying drooping of both eyelids and bilateral external ophthalmoparesis. The acetylcholine receptor antibodies were elevated, and there was a dramatic response to edrophonium confirming the clinical impression of myasthenia gravis. Spontaneous remission of the ptosis was noted after six months with no specific treatment. Many other family members were examined; none of them had clinical or laboratory evidence of myasthenia gravis. The clinical examination of the mother and the maternal grandmother, neither of whom had any complaints, resulted in a definite diagnosis of myotonic dystrophy. The proband's father and a 3-year-old sister were examined and found to be normal. We studied the HLA antigens of all of the available family members; none were found to have the HLA antigens most commonly associated with myasthenia gravis. Secretor gene studies were not helpful in providing additional genetic identification. The question generated by the coexistence of these two uncommon disorders in one family is if there is a genetic or other relationship between them or if this was merely a coincidental occurrence. At this point in time the question remains unanswered and must await demonstration of additional similar circumstances.
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PMID:The coexistence of myasthenia gravis and myotonic dystrophy in one family. 356 10

Experimental autoimmune myasthenia gravis (EAMG) was induced in rhesus monkeys using purified acetylcholine receptor (AChR) from Torpedo california. A single dose of 80 micrograms induced antibody formation two weeks after injection. Two subsequent doses at two-week intervals caused clinical signs (anorexia, fatigability, weight loss, ptosis and dysphagia) which initially responded to treatment with neostigmine. Histologic examination of post-mortem tissues revealed lesions characteristic of myasthenia gravis in man: muscular atrophy, fibrous degeneration and lymphocytic infiltration. Antibodies were quantitated in the sera of three other monkeys which received only 60 micrograms of purified AChR. Abnormally high titers persisted for two years (60-200 micrograms /ml versus 0-10 micrograms/ml for controls). A monkey injected with 60 micrograms AChR as part of reconstituted membrane vesicles had lower titers (30-50 micrograms/ml) than those which received purified receptor. Only those monkeys with antibody titers exceeding 800 micrograms/ml developed overt disease. These titers were 4-100 times higher than those reported for myasthenic humans. The antibody-antigen molar ratios were higher for monkeys with disease than for asymptomatic animals. These data suggest that the diversity of antibody molecules synthesized by the sensitized monkeys determined the appearance of clinical signs, and that the cross reaction of anti-torpedo antibodies with monkey receptor was primarily responsible for the development of EAMG.
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PMID:Induction of experimental myasthenia gravis in rhesus monkeys: a model for the study of the human disease. 379 23

Fifteen patients with ocular myasthenia gravis were examined in detail for 21 different signs, and tested for acetylcholine receptor antibodies. The major signs of ocular myasthenia gravis included ptosis, disorders of ocular rotations, weakness of eyelid closure, "pseudosupranuclear" signs and the lid twitch sign. Acetylcholine receptor antibodies were found in eight of the 15 patients. One hundred and four normal, non-myasthenic patients were also examined for the lid twitch response, and the relationship between the lid twitch of ocular myasthenia gravis and that found in normal subjects is discussed.
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PMID:An evaluation of signs in ocular myasthenia gravis and correlation with acetylcholine receptor antibodies. 383 99


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