Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and hepatomegaly. Most GSD Ib patients also show neutropenia and neutrophil dysfunction and therefore are at risk of developing severe infections and inflammatory bowel disease (IBD). An increased risk for autoimmune disorders, such as thyroid autoimmunity and Crohn-like disease, has also been demonstrated, but no systematic study on the prevalence of autoimmune disorders in GSD Ib patients has ever been performed. We describe a 25-year-old patient affected by GSD Ib who developed 'seronegative' myasthenia gravis (MG), presenting with bilateral eyelid ptosis, diplopia, dysarthria, severe dysphagia, dyspnoea and fatigue. The repetitive stimulation of peripheral nerves test showed signs of exhaustion of neuromuscular transmission, particularly evident in the cranial area. Even in the absence of identifiable anti-acetylcholine receptor antibodies, seronegative MG is considered an autoimmune disorder and may be related to the disturbed immune function observed in GSD Ib patients.
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PMID:Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? 1843 26

A-58-year old man presented with fluctuating ptosis and dysphagia. When he was 53 years old, he developed oral candidiasis and serum human immunodeficiency virus (HIV) RNA was detected. After starting highly active antiretroviral therapy, serum HIV RNA became undetectable. Neurological examination revealed ptosis and bulbar symptoms. Myasthenia gravis was comfirmed by a positive edrophonium test, showing 20% decrement of the compound muscle action potential on repetitive stimulation. Anti-acetylcholine receptor antibodies were negative and anti-muscle specific tyrosine kinase (MuSK) antibodies were positive. The chest CT scan was normal. He experienced transient clinical remission with pyridostigmine bromide and prednisolone. However relapse occurred after he returned to work. Persistent clinical remission was first observed after cyclosporin administration. There are eleven reports in which patients had concomitant myasthenia gravis and HIV infection. Most of those cases were benign in clinical course and required only anticholinesterase therapy. In our case, however, anti-MuSK antibodies were positive, and symptoms of myasthenia gravis remained despite prednisolone administration. Cyclosporin is directly active against HIV, and thus, cyclosporine therapy may be helpful in patients with concomitant myasthenia gravis and HIV infection.
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PMID:[Anti-MuSK antibody positive myasthenia gravis with HIV infection successfully treated with cyclosporin: a case report]. 1904 51

Dysphagia is a common symptom in neuromuscular junction disorders, but it rarely occurs in isolation or is the presenting feature. We describe a patient presenting with isolated dysphagia to liquids. Electrophysiological studies, such as repetitive nerve stimulation and single-fiber electromyography, were normal. Serum anti-P/Q-type voltage-gated calcium-channel (anti-P/Q-type VGCC) and anti-acetylcholine receptor (AChR ab) antibodies were above the normal range. A computed tomography scan showed a mediastinal mass corresponding to a thymic carcinoma. After chemotherapy, surgical removal of the thymic carcinoma and radiotherapy, the patient no longer complained of dysphagia, AChR ab titers were reduced and anti-P/Q-type VGCC antibodies became negative. To the best of our knowledge, no previous reports of a paraneoplastic myasthenic syndrome related to thymic carcinoma with both anti-P/Q-type VGCC and AChR antibodies have been described.
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PMID:Isolated dysphagia due to paraneoplastic myasthenic syndrome with anti-P/Q-type voltage-gated calcium-channel and anti-acetylcholine receptor antibodies. 2111 45

We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic syndrome due to homozygous mutations of the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). Onset of symptoms occurred in the first few months of life with ptosis, restricted ocular motility, mild proximal weakness, and difficulty swallowing. Multiple hospital admissions were required due to recurrent pulmonary infections. There was no decremental conduction on repetitive nerve stimulation, but jitter was increased on single fiber electromyographic. Since early childhood, our patients have done well without pulmonary or bulbar symptoms and with partial improvement on pyridostigmine therapy. Response of ptosis to diagnostic ice pack test was striking. Although these siblings have a clinical history and examination findings typical of homozygous CHRNE mutations, the clinical presentation of congenital myasthenia subtypes is variable, and accurate genotyping is essential in choosing the appropriate treatment.
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PMID:Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. 2115 Jun 43

The use of cyclophosphamide and rituximab for patients with refractory myasthenia gravis has shown promising results. We report on a 31-year-old Chinese woman with acetylcholine receptor antibody-negative and muscle-specific tyrosine kinase antibody-positive generalised myasthenia gravis who had refractory bulbar dysfunction and respiratory failure despite immunosuppressive therapy and thymectomy, and partial and sustained responses to cyclophosphamide and rituximab treatment, respectively. Myasthenia crisis was diagnosed when she presented in the third trimester of pregnancy with dysphagia, bilateral ptosis, prominent fatigability, and respiratory failure. She required prolonged intensive care and non-invasive ventilatory support despite several courses of intravenous immunoglobulins and plasmapheresis. Pulse cyclophosphamide 500 mg/m(2) was given monthly for 4 consecutive months with a partial response. Rituximab 500 mg weekly was subsequently given for 4 weeks with a dramatic and sustained response. She remained symptom-free and assumed full maternal care at 1 year. To the authors' knowledge, this is the first report of a Chinese patient with refractory myasthenia gravis who responded to cyclophosphamide and rituximab.
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PMID:Refractory bulbar and respiratory dysfunction in a young Chinese woman with seronegative, muscle-specific tyrosine kinase antibody-positive myasthenia gravis: response to cyclophosphamide and rituximab treatment. 2128 32

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

A 69-year-old Japanese female was admitted because of progressive nasal voice and dysphagia. Neurological examination revealed paresis of the soft palate with marked dysphagia and rhinolalia. Otherwise there was no weakness or easy fatigability in extraocular muscles and extremities. On laboratory test, anti-acetylcholine receptor antibody (anti-AChR Ab) was positive, while anti-muscle-specific tyrosine kinase antibody (anti-MuSK Ab) was negative. Edrophonium test was positive, resulting in clear improvement in phonation and swallowing. Harvey-Masland test of ocular and extremity muscles did not show any waning. With the diagnosis of bulbar myasthenia gravis, the patient was treated with methylprednisolone and pyridostigmine, resulting in clear improvement of the symptoms. The present case shows that it is important to consider MG even in cases presenting solely with progressive bulbar palsy without easy fatigability. So far, cases of bulbar myasthenia gravis with positive anti-MuSK Ab have often been reported. As shown in the present case, bulbar myasthenia gravis can also be associated with positive anti-ACh-R Ab but negative anti-MuSK Ab.
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PMID:[A case of myasthenia gravis presenting solely with bulbar palsy unassociated with easy fatigability]. 2352 4

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

This case report concerns the diagnosis of two independent chronic diseases in a patient hospitalized for stroke, myasthenia gravis (MG) and giant cell arteritis (GCA). MG has been found to be associated with several diseases, but there are very few cases documenting its coexistence with GCA. We report the case of a 79-year-old woman initially hospitalized for stroke. Patient's concurrent symptoms of blepharoptosis, dysphagia, and proximal muscle weakness were strongly suggestive of myasthenia gravis. The persistent low-grade fever and elevated inflammatory markers in combination with the visual deterioration that developed also raised the suspicion of GCA. Histological examination confirmed GCA, while muscle acetylcholine receptor antibodies were also present. Even though in medicine one strives to interpret a patient's symptoms with one diagnosis, when one entity cannot fully interpret the clinical and laboratory findings, clinicians must consider the possibility of a second coexisting illness.
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PMID:Myasthenia gravis and stroke in the setting of giant cell arteritis. 2378 75


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