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After discussion of the modern concepts of pathophysiology of ocular myasthenia the ocular symptoms such as ptosis and eye muscle palsies are discussed. As important diagnostic sign the Simpson lid fatigue test before and after application of Tensilon is described. For diagnosis of myasthenic eye muscle palsies electrooculography has a special significance especially in connection with the application of Edrophonium, which normalizes myasthenic hypometric saccades and transforms them even in hypermetric saccades. In doubtful cases of eye muscle palsies the electromyogram of the affected muscle in connection with the Edrophonium-test is extremely valuable. With regard to modern treatment apart from cholinesterase inhibitors (Pyridostigmine, Neostigmine) thymectomy, the application of corticosteroids, ACTH and especially also immune suppressive drugs (Imurel etc.) is discussed. Of great significance in ocular myasthenia is the local application of cholinesterase inhibitors like Eserine, Prostigmin or Phospholine Iodide.
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PMID:[Diagnosis and treatment of ocular myasthenia (author's transl)]. 20 42

We studied 4 siblings (3 men and 1 woman), ages 22 to 43 years, with congenital ptosis, external ophthalmoplegia, proximal muscle weakness and fatigability unresponsive to acetylcholinesterase (AChE) inhibitors. Repetitive nerve stimulation showed a significant compound muscle action potential (CMAP) area decrement at 2 or 3 Hz. Nerve conduction studies and concentric needle electromyography were normal, and repetitive CMAPs to single nerve stimulation were not observed. Voluntary single fiber electromyography (SFEMG) showed increased jitter and blocking. Assessment of individual end-plates using SFEMG with intramuscular axonal microstimulation showed no uniform relationship between jitter and the rate of stimulation, consistent with a postsynaptic defect of neuromuscular transmission. Edrophonium eliminated the decremental response to repetitive nerve stimulation, but caused no significant clinical improvement, suggesting an additional mechanism for weakness in these patients.
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PMID:A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors. 131 43

The first patient was a 37-year-old man with an invasive and lymphoid cell dominant thymoma (stage III). He underwent extended total thymectomy and partial resection of the upper lobe of the left lung. Four years after the operation, he had ptosis and diplopia and was diagnosed as having myasthenia gravis (positive Tensilon test and raised antiacetylcholine receptor antibody titer). His symptoms improved with the steroid therapy. The second patient was a 37-year-old woman with an invasive and mixed type thymoma (stage III). Extended total thymectomy with combined resection of the mediastinal pleura and right phrenic nerve was performed, but the tumor recurred in the right thorax 2 years postoperatively. Subtotal resection of the parietal pleura and recurrent tumors was performed by right thoracotomy, and steroid therapy was given. She developed malaise, ptosis and diplopia three months later, and was diagnosed as having myasthenia gravis. Her symptoms disappeared after the steroid therapy was stopped. A review of the Japanese literature is presented and problems regarding the pathogenesis of this disease are discussed.
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PMID:[Two cases of post-thymectomy myasthenia gravis]. 140

Oculopharyngeal muscular dystrophy is an inherited disorder, usually autosomal dominant, which typically becomes symptomatic during the fifth decade of life with slowly progressive ptosis and dysphagia; childhood onset has not been reported. A 13-year-old female of French-Canadian descent developed nasal speech and strabismus at 5 years of age; there was no family history of neuromuscular disease. Ptosis and mild facial and proximal muscle weakness were present by 9 years of age. Over the next 4 years, the patient developed dysphagia, palatal paralysis, weight loss, decreased ocular motility, scoliosis, shortness of breath, and obstructive apnea. Tracheostomy and gastrostomy were required. Creatine kinase and repetitive facial nerve stimulation were normal. Edrophonium testing was negative and electromyography revealed myopathic motor units in the iliopsoas muscle. A preponderance of type I fibers and scattered atrophic and angulated muscle fibers were present in 3 muscle biopsies. The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.
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PMID:Childhood onset oculopharyngeal muscular dystrophy. 176 43

We report on a female patient who had a tumour below the mandibular, on the right side of the neck, aged 70 years. When she was 74 years old easy discomfort characterized by trembling of the hands while resting and moving to the target as well as a certain stiffness of the neck, appeared. Three years later, at the age of 77, she felt fatigue, ptosis, double vision, weakness of the jaws while chewing, speech and swallowing disturbances, and weakness of the legs, that led to disability. In such state of health the patient was admitted to hospital for medical examination. Hypomimia, rigor of the neck muscles, vesting tremor, and, above all, clearly marked signs of myasthenic weakness and fatigue of the extraocular, masseteric, mimic, and bulbar muscles and those of the limbs, but in a lesser degree, were found. With Tensilon test we registered a positive response, and by an electrophysiological examination we defined a myasthenic decrement under the repetitive stimulus. Biopsy of submandibular tumour and histologic analysis indicated tuberculous lymphadenitis. Most symptoms of the disease disappeared during the treatment with anticholinesterase drugs and amantadine.
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PMID:[An unusual association of myasthenia gravis and Parkinsonism in a female patient with tuberculous lymphadenitis]. 179 25

The diagnosis of myasthenia gravis is usually confirmed by a Tensilon test, which can be complicated by cholinergic side effects that include cardiopulmonary arrest. An alternative, the Sleep test, based on the characteristic of myasthenia that symptoms and signs worsen with fatigue and improve after a period of rest, is safe, moderately sensitive, and specific. The diagnosis of myasthenia can be confirmed by observing resolution of ptosis or ophthalmoparesis immediately after a 30-minute period of sleep; the reappearance of the myasthenic signs over the next 30 seconds to 5 minutes adds further confirmation.
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PMID:The sleep test for myasthenia gravis. A safe alternative to Tensilon. 183 52

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

Victor and his associates coined the term oculopharyngeal muscular dystrophy to describe a clinical syndrome characterised by dysphagia and ptosis. Subsequent authors have traced a large series in French Canadians to a single Quebec isolate and have emphasized that the condition is usually inherited as a dominant trait. In 1974 Fried reported two isolated cases in an Ashkenazi Jewish family of Hungarian extract in whom the condition was recessively inherited. In this paper we report an Irish family from North Cork with typical features of oculopharyngeal muscular dystrophy in whom the inheritance pattern is dominant with incomplete expression. In reporting such cases the ethnic and genetic heterogeneity of oculopharyngeal muscular dystrophy is highlighted. Case Report 1. A 68 year old farmer was admitted for investigation of recurrent chest infections. He complained of a 20 year history of progressive difficulty swallowing, productive cough and impaired vision. On examination he had a gaunt expressionless appearance with bilateral ptosis to mid pupillary level. Both right and left gag reflexes were noted to be reduced and sluggish, and on swallowing fluids were noted to regurgitate through his nostrils. Chest examination revealed the presence of bibasal coarse crepitations suggestive of aspiration. No further physical abnormalities were noted. On investigation, full blood count, urea, and electrolytes, liver function tests, sedimentation rate, thyroid function tests, muscle enzymes (PK, LDH) and electrocardiogram were normal. Chest radiograph confirmed aspiration. Tensilon test was negative. Oesophagoscopy outruled organic obstruction, and confirmed sluggish pharyngeal muscular activity. A clinical diagnosis of oculopharyngeal dystrophy was made on the basis of associated ptosis and dysphagia occurring in the presence of a supportive family history.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Oculopharyngeal muscular dystrophy in an Irish family. 275 12

The use of Tensilon (edrophonium chloride) is important in the diagnostic evaluation of many ptosis patients. A three-way stopcock with double syringe allows concomitant administration of atropine to counteract the cholinergic side effects of edrophonium.
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PMID:The Tensilon test using a three-way stopcock and double syringe. 315 48

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


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