Gene/Protein Disease Symptom Drug Enzyme Compound
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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 47-year-old woman with dysphagia and ptosis gradually developed dysarthria and muscular weakness. Magnetic resonance imaging, testing for anti-acetylcholine receptor antibodies, edrophonium chloride (EC) test, and electrophysiologic test revealed no abnormalities. A psychogenic reaction was suspected. Four months after disease onset, the patient presented to our hospital. In videofluoroscopic examination of swallowing (VF), there was no aspiration for swallowing of either liquid or soft food. It revealed, however, poor pharyngeal constriction, no epiglottis inversion, repeated swallowing movements, and large amounts of pharyngeal residue. Videofluoroscopic examination of swallowing after an intravenous injection of 10 mg EC showed improvements in all above observations; particularly, it was clear when swallowing soft food. Furthermore, the anti-muscle-specific kinase (MuSK) antibody titer was elevated, and anti-MuSK antibody-positive myasthenia gravis (MuSK-MG) was diagnosed. Thus VF during EC test may be helpful in diagnosing MuSK-MG in patients with dysphagia.
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PMID:Videofluorographic detection of anti-muscle-specific kinase-positive myasthenia gravis. 2267 97

Myasthenia gravis is not a frequent disease in the elderly. The diagnosis of this neuromuscular junction disease in the elderly is difficult because of comorbidities and the broad differential diagnosis. We report here the case of a 86-year-old woman referred to hospital for loss of weight and difficulties in feeding. She was cachectic and had been suffering from dysphagia for several weeks. One week later, her clinical state worsened with the appearance of ptosis and oropharyngeal dysfunction, disturbing eating and talking. Myasthenia gravis was suspected and confirmed by a positive acetylcholine receptor antibody titer. The clinical state of the patient unfortunately worsened, with acute respiratory insufficiency, causing death. Myasthenia gravis must be suspected in a context of dysphagia, swallowing difficulties and loss of weight. This diagnosis leads to specific and symptomatic treatment and allows neuromuscular blockade-inducing drugs to be avoided.
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PMID:Myasthenia gravis in the elderly: a rare cause of undernutrition. 2323 15

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ). We report here an Iranian patient in whom CMS was diagnosed since he presented with congenital and fluctuating bilateral symmetric ptosis, upward gaze palsy and slowly progressive muscle weakness leading to loss of ambulation. Genetic analysis of the patient revealed a homozygous missense mutation c.2503A>G in the coding sequence of MUSK leading to the p.Met835Val substitution. The mutation was inherited from the two parents who were heterozygous according to the notion of consanguinity. Immunocytochemical and electron microscopy studies of biopsied deltoid muscle showed dramatic changes in pre- and post-synaptic elements of the NMJs. These changes induced a process of denervation/reinnervation in native NMJs and the formation, by an adaptive mechanism, of newly formed and ectopic NMJs. Aberrant axonal outgrowth, decreased nerve terminal ramification and nodal axonal sprouting were also noted. In vivo electroporation of the mutated MuSK in a mouse model showed disorganized NMJs and aberrant axonal growth reproducing a phenotype similar to that observed in the patient's biopsy specimen. In vitro experiments showed that the mutation alters agrin-dependent acetylcholine receptor aggregation, causes a constitutive activation of MuSK and a decrease in its agrin- and Dok-7-dependent phosphorylation.
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PMID:A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. 2332 16

We report a 34 year old man who developed bilateral ptosis and predominantly respiratory, truncal and bulbar weakness, and a high titer of anti acetylcholine receptor antibodies along with a diagnosis of Philadelphia chromosome positive Chronic Myeloid Leukemia (CML). The temporal relationship suggests a possible association.
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PMID:Chronic myeloid leukemia with an unusual paraneoplastic syndrome. 2340 24

We report an elderly woman with sarcoidosis and rheumatoid arthritis who subsequently developed myasthenia gravis. She was given a diagnose of rheumatoid arthritis at the age of 65 years and sarcoidosis, proved by multiple lymphadenopathy with noncaseating granuloma at the age of 67. Prednisolone, methotrexate, and etanercept had been administrated for rheumatoid arthritis. She consulted our hospital because of bilateral ptosis with diurnal fluctuation at the age of 72. Myasthenia gravis was confirmed by an elevated serum anti-acetylcholine receptor antibody titer (1,100 nmol/l, normal <0.2) and a positive edrophonium test. A chest CT showed a small granular structure in the anterior mediastinum, suggesting thymic hyperplasia. This is the first reported case of myasthenia gravis complicated by sarcoidosis and rheumatoid arthritis. Administration of etanercept may be involved in the onset of myasthenia gravis.
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PMID:[A case of myasthenia gravis following sarcoidosis and rheumatoid arthritis]. 2371 82

We report a 60-year-old male with thymoma-associated myasthenia gravis with anti-MuSK antibodies. In October 2010, he had diplopia, ptosis, and dysphagia. He was diagnosed to have MG in February 2011. The neurological examination disclosed external ophthalmoplegia, bilateral ptosis, mild dysphagia, and fatigability. Repetitive nerve stimulation of the right facial nerve showed CMAP decrement greater than 10%. Patients showed an improvement in ptosis after administration of edrophonium.Anti-acetylcholine receptor antibody was negative, and anti-muscle specific receptor tyrosine kinase antibody was 66.8 nmol/l (cut-off value: 0.05 nmol/l). Prednisolone (50 mg every other day) were started. Contrast-enhanced chest MRI showed a mediastinal mass suggestive of thymoma. Extended thymectomy was performed in March 2011. Histological examination disclosed a type B1 thymoma. After resection of the tumor, the symptoms of MG improved with prednisolone (100 mg every other day). This is a rare case of MG with anti-MuSK antibodies and thymoma, which has been reported previously only in 2 cases.
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PMID:[A case of thymoma-associated myasthenia gravis with anti-MuSK antibodies]. 2371 86

Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis.
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PMID:Congenital myasthenia gravis. 2382 63

Myasthenia gravis is characterized by muscle weakness and abnormal fatigability. It is an autoimmune disease caused by the presence of antibodies against components of the muscle membrane localized at the neuromuscular junction. In most cases, the autoantibodies are against the acetylcholine receptor (AChR). Recently, other targets have been described such as the MuSK protein (muscle-specific kinase) or the LRP4 (lipoprotein related protein 4). Myasthenia gravis can be classified according to the profile of the autoantibodies, the location of the affected muscles (ocular versus generalized), the age of onset of symptoms and thymic abnormalities. The disease generally begins with ocular symptoms (ptosis and/or diplopia) and extends to other muscles in 80% of cases. Other features that characterize MG include the following: variability, effort induced worsening, successive periods of exacerbation during the course of the disease, severity dependent on respiratory and swallowing impairment (if rapid worsening occurs, a myasthenic crisis is suspected), and an association with thymoma in 20% of patients and with other autoimmune diseases such as hyperthyroidism and Hashimoto's disease. The diagnosis is based on the clinical features, the benefit of the cholinesterase inhibitors, the detection of specific autoantibodies (anti-AChR, anti-MuSK or anti-LRP4), and significant decrement evidenced by electrophysiological tests. In this review, we briefly describe the history and epidemiology of the disease and the diagnostic and clinical classification. The neonatal form of myasthenia is explained, and finally we discuss the main difficulties of diagnosis.
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PMID:Diagnostic and clinical classification of autoimmune myasthenia gravis. 2453 Feb 33

A 65-year-old man who had been experiencing diplopia in front and down gaze for 15 days visited our hospital. Hypertropia was noted in the patient's left eye, and limitation of depression was found in the adduction, primary gaze, and abduction. Brain magnetic resonance imaging showed no remarkable findings. Two weeks after the first visit, the patient complained of ptosis in the left eye. An ice test was performed and the ptosis was resolved after the test. Then, anti-acetylcholine receptor binding antibody levels were checked and found to be slightly elevated. We prescribed methylprednisolone per os 24 mg for 2 weeks, and his symptoms improved after the 2-week treatment. Five weeks after his first visit, the patient showed an ortho result in the alternate prism cover test and normal ocular movements. This may be the first case in which ocular myasthenia gravis presented as double depressor palsy, and in such cases, the possibility of ocular myasthenia gravis should be considered to rule out double depressor palsy.
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PMID:A case of ocular myasthenia gravis presenting as double depressor palsy. 2468 67

A 58-year-old man presented with diplopia and partial ptosis for 10 years. It was non-progressive in nature, despite inadequate medical attention the patient received from non-specialists/general practitioners. He did not have fatigability or diurnal variation in weakness and was clinically stable without exacerbations of disease for a decade. He did not have features of Graves's disease, oculopharyngeal dystrophy, cranial nerve paralysis, polymyositis and stroke. The possibility of an atypical presentation of myasthenia gravis (MG) was considered and the patient was evaluated. Ice pack test was negative, Cogan's lid twitch (CLT) test was positive and high titres of acetylcholine receptor antibodies (AChR Ab) suggestive of MG were found. He was treated accordingly with a very good response.
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PMID:"Why do I always see double?" A misdiagnosed case of ocular myasthenia gravis for 10 years. 2479 21


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