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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

A clinical study of 50 Southern Chinese myasthenic children observed for periods of two to 18 years (six years on average) revealed manifestations different from those of caucasian patients. Onset was early, at an average of 4.8 years. 82 per cent had ocular myasthenia. Ophthalmoplegia followed ptosis between three months and 10 years later. Additional facial and isolated limb-muscle fatigability developed in only 6 per cent within three months to 3 1/2 years. Only 12 per cent developed generalized myasthenia. Although extension from ocular to the generalized form did not occur later than 20 months after onset, a deterioration in ocular symptoms, without extension into generalized myasthenia, occurred in nine of 18 children during adolescence. Ptosis and generalized myasthenia responded better to anticholinesterase and/or prednisone. Ophthalmoplegia was difficult to treat. The natural clinical course was benign. Spontaneous remission occurred in 62 per cent of cases, but 54.8 per cent of these relapsed, all confined to ocular muscles. Although there was no familial occurrence of myasthenia gravis, an association was found between myasthenia and thyroid disorders in some patients and their relatives. The association with HLA BW46 antigen was striking. Acetylcholine receptor antibodies were absent in the majority, but mildly elevated titres were found in three of five patients whose ocular symptoms deteriorated during adolescence, without extension into generalized myasthenia.
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PMID:Myasthenia gravis in Chinese children. 651 56

Two children, now 5 1/2 and 6 years of age, presented as neonates with hypotonia, multiple joint contractures, ptosis, extraocular weakness, bulbar symptoms, and respiratory distress. Fluctuations and episodic exacerbations of weakness necessitated respiratory support. Both children are developmentally delayed and cannot walk independently, although one child underwent bilateral tenotomies. Biochemical investigations and electromyography, including slow-rate, repetitive nerve stimulation, were normal. Acetylcholine receptor antibodies in serum were absent. Single-fiber electromyography with axonal stimulation revealed prolonged mean jitter in the tibialis anterior and extensor digitorum muscles, with more than 2 abnormal individual jitter values in each muscle. Muscle biopsy demonstrated normal pattern and morphology of muscle fibers; immunohistochemical staining for cholinesterase was positive. Electron microscopy revealed abnormalities in motor endplates: atrophy, flattening of primary synaptic clefts, and paucity of side branches. These findings represent one of the postsynaptic abnormalities (i.e., acetylcholine receptor deficiency or paucity of synaptic folds). Both children improved clinically on pyridostigmine therapy. Arthrogryposis congenital multiplex due to congenital myasthenic syndrome, as diagnosed in our patients, has been reported once before. The diagnosis can be established by clinical history, neurologic examination, and electrophysiologic and pathologic findings. Clinical improvement can be achieved with high-dose anticholinesterase therapy.
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PMID:Arthrogryposis multiplex congenita due to congenital myasthenic syndrome. 761 91

We compared the relations and therapeutic outcomes of ocular and generalized types of myasthenia gravis (MG) and used retrospective analysis for 65 patients with myasthenia gravis during a mean follow-up time of 30.4 months. There were 35 ocular and 30 generalized MG patients. Items of comparison included sex, age, clinical presentations, serum antibody titer, the association with thymus status, and therapeutic outcome. Of the patients with generalized MG, males were significantly older than females. Ptosis and diplopia were the most common symptoms in patients with MG, but there were no significant differences between the two types of MG. The eyelid levator muscle and lateral rectus muscle were the most commonly involved extraocular muscles in patients with MG. The associations with thymoma or thymus hyperplasia were more common in generalized MG than in ocular MG, and more common in younger than in older patients. The result of positive neostigmine test was 93.8% in all patients, but there were no significant differences between the two types of MG. Acetylcholine receptor antibody (AchRAb) presented an 81.1% positive rate and was significantly higher in generalized MG than that in ocular MG (96.2% vs 66.7%). There were no significant differences between the two types of MG regarding successful treatment strategies in both initial therapy and maintenance therapy. Only two of 16 patients had complete remissions after thymectomy. From the viewpoint of clinical presentations or from the therapeutic strategy outcome, the boundary between both types of MG seems to be vague. Both types of MG probably share the same entity in nature and the difference is just a matter of degree of severity. The benefit of thymectomy in treatment of MG needs further investigation.
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PMID:A comparative study of ocular and generalized myasthenia gravis. 1205 70

We describe a 34-year-old patient who was admitted with episodic diplopia, ptosis, and swallowing difficulties of 6 months duration. He also had some muscle cramps aggravated by exercise since the age of 20. Bilateral ptosis of the eyelids, normal gaze, rare fasciculations of the tongue, easy fatigability of ocular and bilateral proximal limb muscles, atrophy of the testes, and gynecomastia were found on neurologic examination. Repetitive nerve stimulation studies and jitter measurement disclosed the defect of neuromuscular junction transmission. Acetylcholine receptor binding antibody was not detected. Acetylcholine esterase inhibitors relieved these episodic symptoms. A genetic study that showed an expansion of cytosine-adenine-guanine (CAG) repeat in the first exon of the androgen receptor (AR) confirmed the diagnosis of X-linked recessive spinal and bulbar muscular atrophy (X-SBMA). Thus, this case shows a rare association of ocular myasthenia gravis with X-SBMA.
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PMID:Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy. 1907 30

We report the case of a 17.5-year old girl with generalized myasthenia gravis (MG). When she was 13, she started to complain of episodic diplopia, ptosis and mild fatigability of upper and lower extremity muscles. She was diagnosed with MG 3 years later, after exacerbation of her limb muscle weakness. Acetylcholine receptor antibody was positive (2.56 nmol/l, n < 0.4 nmol/l), anti-MuSK antibodies were not tested at that time. She was treated with a thymectomy. After the operation a gradual worsening of her MG was seen; she reported pirydostygmine intolerance. On retesting, acetylcholine receptor antibodies were negative and she was positive for anti-MuSK antibodies. She received immunosuppressive treatment with prednisone and azathioprine with clinical improvement. She is the third reported patient diagnosed with acetylcholine receptor antibody-positive MG, who became MuSK-positive after thymectomy. Recognition of such clinical patterns may be important for decision making in myasthenia gravis patients.
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PMID:Juvenile seropositive myasthenia gravis with anti-MuSK antibody after thymectomy. 1954 60

Miller Fisher syndrome (MFS), variant of acute inflammatory demyelinating polyradiculoneuropathy, is recognized as clinical triad (ophthalmoplegia-ataxia-areflexia). Ganglioside antibodies play an important role in the pathogenesis of acute polyradiculoneuropathy including MFS. To our knowledge, there has been no report of MFS presenting with atypical alternating ptosis or with concurrent elevation of serum GD1 and asialo-GM1 antibody titers, and negative titers of GQ1b antibody such as our patient. Our objective is to report MFS with unusual symptoms and to share our diagnostic approach. We report a rare case of MFS presenting with alternating eyelid ptosis, paresthesia, and ataxia after a respiratory infection. Initial neurological examination revealed left eyelid ptosis, hyporeflexia, positive Romberg sign, and ataxia. The ice pack test was negative. Three days later, contralateral ptosis was observed, associated with areflexia and worsened ataxia. However, there was significant improvement of the previous left eyelid ptosis. Serology revealed elevated asialo-GM1 and GD1b antibodies. Acetylcholine receptor antibodies were negative. Cerebral spinal fluid revealed elevated IgG index. Nerve conduction studies (NCS) performed four days after the onset of symptoms showed normal nerve conduction velocities and F-waves, and absent bilateral H-reflexes. Repetitive nerve stimulation (3 Hz) showed no decrement of compound muscle action potentials. Trial with a single dose of pyridostigmine showed no clinical improvement. The symptoms resolved without intervention. NCS 18 days after onset of symptoms showed mildly prolonged F-waves and absent H-reflexes. This case highlights an atypical presentation of MFS and raises the awareness of a rare autoantibody associated with it.
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PMID:Alternating ptosis associated with asialo-GM1 and GD1b antibodies. 2671 Sep 25

We report the first case of ocular myasthenia gravis (OMG) in a patient with complete tetraplegia, highlighting diagnostic and management challenges. Spinal multidisciplinary rural clinic and specialised inpatient Spinal Cord Injury Unit, NSW, Australia. A 61-year-old man with established C5 AIS A tetraplegia, presented with sudden onset of diplopia and bilateral ptosis, later diagnosed as OMG, in context of other complex co-morbidities, including a cervical cord syrinx, obstructive sleep apnoea and labile blood pressure. Clinical findings were consistent with fluctuating bilateral partial third and sixth nerve palsies. Acetylcholine receptor antibodies were negative, but electromyography demonstrated muscle fatigue. The ocular signs responded well to pyridostigmine. Medications taken before diagnosis, including solifenacin for neurogenic bladder overactivity, were ceased to avoid attenuating the anti-cholinesterase effect. However, the unopposed anti-cholinesterase activity led to frequent and painful abdominal spasms, associated with uncontrolled detrusor hyperreflexia and worsening autonomic dysreflexia (AD). A trans-vesical phenol block to treat this provided only short-lasting benefit. Pyridostigmine was ceased to avoid provoking his abdominal spasms and his regular medications were recommenced. It was decided that the most appropriate treatment for his distressing diplopia was an eye patch. After discharge home, he continued to experience problems with recurrent urinary tract infections, abdominal spasms, episodic postural hypotension and AD. After 5 months, the patient died from an acute myocardial infarction. This case report contributes new knowledge about the rare presentation of OMG in a person with chronic tetraplegia.
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PMID:Ocular myasthenia gravis in a person with tetraplegia presenting challenges in diagnosis and management. 3126 10

A 30-year-old woman with congenital vocal cord paralysis presented for evaluation of fatigable proximal upper limb weakness and difficulty maintaining the neck erect. Neurologic examination showed bilateral asymmetric eyelid ptosis, mild weakness (MRC 4/5), and atrophy of neck extensors and shoulder girdle muscles, whereas lower limb muscle strength was normal. Repetitive nerve stimulation revealed decremental responses in orbicularis oculis and trapezius. Needle electromyography demonstrated myopathic changes in proximal and paraspinal muscles. Acetylcholine receptor and muscle skeletal receptor tyrosine kinase (MuSK) antibodies, creatine kinase (CK), and lactate were negative or normal. Next-generation sequencing detected two heterozygous variants in the MUSK gene. One variant, c.79+2T>G, is a known pathogenic variant, and the other, c.2165T>C (p.V722A), is a novel missense variant, predicted to be pathogenic by in silico analysis. The two variants were proven to be in trans. This case expands the clinical and molecular spectrum of MuSK congenital myasthenic syndromes.
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PMID:Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK-Congenital Myasthenic Syndrome. 3192 Sep 24