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

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disorder characterized by progressive dysphagia and bilateral ptosis. Mutations in the polyadenylate binding protein nuclear 1 (PABPN1) gene have been found to cause OPMD. The typical mutation is a stable trinucleotide repeat expansion in the first exon of the PABPN1 gene, in which (GCG)(6) is the normal repeat length. We investigated a Korean patient with OPMD and identified a novel mutation: a heterozygous insertion of a 9-bp sequence [(GCG)(GCA)(GCA); c.27_28insGCGGCAGCA] instead of the (GCG) repeat expansion, resulting in an in-frame insertion of three alanines (p.A10insAAA). To the best of our knowledge, this is the first report of a genetically confirmed case of OPMD in Korea.
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PMID:Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy. 1713 75

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis affects vessels of various diameters in various tissues or organs, sometimes associated with neurological complications. A 77-year-old man developed dysphagia, hoarseness, dysgeusia, gait unsteadiness, and right temporalgia; neurological examination revealed multiple cranial neuropathies. Laboratory studies demonstrated severe inflammatory responses, elevation of perinuclear ANCA, and mild proteinuria. Magnetic resonance imaging of the brain showed dural enhancement in the cerebellar tentorium. Biopsy revealed necrotizing glomerulonephritis in the kidney, and temporal arteritis without giant cells in the temporal artery. The patient was diagnosed with microscopic polyangitis presenting with temporal arteritis and multiple cranial nerve involvement, and was treated with predonisolone, after which the symptoms and laboratory data showed improvement. This is the first case of ANCA-associated vasculitis with pathologically verified lesions in the temporal artery as well as in the kidney. Thus, ANCA-associated vasculitis may simultaneously affect large vessels such as temporal artery, as well as microvessels in the kidney, nerves and other organs.
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PMID:Microscopic polyangitis presenting with temporal arteritis and multiple cranial neuropathies. 1737 46

Anti Phospholipid Syndrome (APS) is a relatively new conception of syndrome complex first noticed in 1983. It may be primary or secondary to other diseases like SLE, RA, Systemic sclerosis, behchet's syndrome, temporal arteritis, sjogren's syndrome psoriatic arthropathy etc. Clinical manifestations are consequences of vascular thrombosis and embolism like DVT, pulmonary embolism, stroke, TIA, complication of pregnancy with pregnancy loss. We report a 34 years married female housewife who presented with sudden onset of nausea, vomiting, vertigo, dysphagia, dysarthria and ataxia. She had a chronic leg ulcer. Neurological findings were consistent with lateral medullary syndrome due to stroke though she was normotensive, nondiabetic with normal lipid profile. She had history of two abortions in last three years. Investigations were done accordingly and she fulfilled the diagnostic criteria of APS. No secondary cause was detected after thorough clinical examination and laboratory investigations. She was treated symptomatically along with oral anticoagulation. She improved slowly but steadily.
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PMID:Anti phospholipid syndrome. 1918 54

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

Autosomal dominantly inherited oculopharyngeal muscular dystrophy (OPMD) is caused by a trinucleotide repeat expansion in exon 1 of the polyadenylate binding protein nuclear 1 (PABPN1) gene on chromosome 14q. A large family with OPMD was recently identified in Pretoria, South Africa (SA). Molecular studies revealed a (GCG)11(GCA)3GCG or (GCN)15 mutant allele. The (GCN)15 mutation detected in this family has been described previously in families from Uruguay and Mexico as a founder effect. To our knowledge, this is the first report of an SA Afrikaner family with molecularly confirmed OPMD. The proband, a 64-year-old woman, presented to the neurology outpatient department at Steve Biko Academic Hospital, Pretoria. A sibship of 18 individuals was identified, of whom eight had OPMD. Four patients were interviewed and examined clinically, and electromyographic studies were performed. Molecular analysis of the PABPN1 gene was performed by polymerase chain reaction amplification and direct sequencing of exon 1 in three of the patients. Patients presented with ptosis, external ophthalmoplegia, dysphagia, dysarthria and mild proximal weakness. High foot arches and absent ankle reflexes raised the possibility of peripheral neuropathy, but electromyography showed only mildly low sensory amplitudes, and myopathic units in two patients.
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PMID:A South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics. 2642 47

Oral manifestations are frequent in patients with rheumatic diseases. The aim of this review is to offer readers practical advice concerning the onset, diagnosis and treatment of the main oral manifestations encountered in rheumatological and dental clinics. Signs and symptoms such as oral hyposalivation, xerostomia, temporomandibular joint disorders, periodontal disease, and dysphagia may be the first expression of a number of rheumatic diseases. Some of these manifestations are aspecific and very frequent, such as oral aphthosis, which can be the first manifestation in patients with systemic lupus erythematosus; some are potentially dangerous, such as jaw claudication during the course of giant cell arteritis; and some are very rare but peculiar, such as strawberry-like gingivitis in patients with granulomatosis with polyangiitis. Other oral manifestations are due to adverse reactions to disease-modifying anti-rheumatic drugs. Oral alterations in rheumatic diseases are frequently overlooked in clinical practice, but their prompt recognition not only allows the local lesions to be appropriately treated, but also makes it possible to identify an underlying systemic disease.
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PMID:Main Oral Manifestations in Immune-Mediated and Inflammatory Rheumatic Diseases. 3058 83

Unusual presentations of Giant Cell Arteritis (GCA) can sometimes delay the diagnosis and its prompt treatment. An 83-year-old male patient was admitted in the emergency department with a few hours evolution of tongue swelling, dysphagia and dysarthria. He also complained of a bitemporal headache with about 4 months of evolution and resistant to all treatment prescribed, including ergotamine, that he had started one week before. Upon examination, the patient presented a bilateral temporal pain and reduced mobility of the tongue which evolved to complete cyanosis. The blood tests revealed normocytic normochromic anaemia, an erythrocyte sedimentation rate of 62 mm/h, and C-reactive protein of 23,6 mg/dl. Cranial CT scan was normal and the cervical CT angiogram showed reduced vascularization of the left submandibular gland and of the base of the tongue. The cervical doppler ultrasound was compatible with arterial inflammation. Given the high suspicion of GCA, the patient was immediately put on a high dose of corticosteroid, resulting in a big improvement of the symptoms, which continued in the following weeks. In conclusion, the clinical suspicion of GCA is fundamental for an early diagnosis. The authors consider that ergotamine might have triggered tongue ischemia in this case.
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PMID:Tongue ischemia - an unusual presentation of Giant Cell Arteritis. 3157 44