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)

A 46-year-old woman presented progressive proximal weakness and dysphagia. Her serum creatine kinase and myoglobin levels were markedly elevated. Chest X-rays revealed bilateral swelling of the hilar lymph nodes. Needle electromyography demonstrated active denervation and early recruitment. MRI of her skeletal muscle showed focal high intensities on T1-weighted images that were associated with diffusely increased signal intensities on T2-weighted images. Muscle biopsy revealed infiltration of inflammatory cells associated with non-caseating granulomas, and there was widespread segmental fiber necrosis, where necrotic fibers appeared regardless of these granulomas. Immunohistochemical analysis of the surface markers of the infiltrating cells showed CD68- and CD4-positive cells infiltrating into the central area of the granuloma, while CD8-positive cells infiltrating into the endomysium and the periphery of the granulomas. The characteristic histology of the granuloma confirmed the diagnosis of sarcoidosis. The diffuse muscle pathology was consistent with the patient's severe clinical course.
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PMID:A severe case of subacute sarcoid myositis. 1083 75

A 13-year-old castrated male cat was examined because of a 2-week history of weakness, cervical ventroflexion, and dysphagia. Clinicopathologic abnormalities included hypokalemia and high serum creatine kinase activity. Abdominal ultrasonography revealed a 15-mm spherical mass in the area of the left adrenal gland. Plasma aldosterone concentration was high, and plasma renin activity was low. Findings were diagnostic of primary hyperaldosteronism. The cat responded well to intravenous and oral potassium supplementation while in the hospital. The owner declined surgery; therefore, repeated follow-up abdominal ultrasonography was recommended. The cat did well clinically with medical management alone until day 334, when it was lost to follow-up.
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PMID:Use of abdominal ultrasonography in the diagnosis of primary hyperaldosteronism in a cat. 1090 61

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. The genetic basis of the condition has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the poly(A) binding protein 2 gene (PABP2), in which (GCG)(6) is the normal repeat length. The prevalence of OPMD is greatest in patients of French-Canadian origin. It is not clear if expansion repeat length is a reliable test in other populations. In this study, we analysed the phenotypic and genotypic characteristics of 31 patients with OPMD in the UK. Ptosis was the first reported symptom in two-thirds of the patients, and half of the subjects studied had evidence of ophthalmoplegia. All but one family had a pathological expansion in the PABP2 gene, ranging from (GCG)(8) to (GCG)(13). In contrast to the French-Canadian population, (GCG)(10) was almost as common as (GCG)(9), evidence against a strong founder effect in the UK population. There was a weak association between repeat length and age of disease onset. Patients with longer repeat lengths, such as (GCG)(13), developed severe limb weakness early in the disease. We were unable to detect the (GCG)(7) polymorphism in over 200 normal controls, suggesting that the frequency of this expansion is lower than that found in the French-Canadian population. One family was negative for the expansion. Affected members presented with the classical features of OPMD, namely ptosis, dysphagia and cytoplasmic inclusions on muscle biopsy, although with some atypical features, such as early age of onset, high serum levels of creatine kinase and a profound ophthalmoplegia. This family is an example of a GCG expansion-negative oculopharyngeal syndrome requiring further genetic investigation. We conclude that PABP2 analysis is a reliable non-invasive diagnostic test for OPMD in the UK population.
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PMID:Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. 1122 52

Primary hypoadrenocorticism was diagnosed in an eight-year-old neutered male cat. The predominant presenting complaint was dysphagia. Other historical signs included lethargy, weight loss, polydipsia, polyuria, muscle weakness and occasional vomiting. The signs had waxed and waned over the two months before presentation and had improved when the cat was treated with enrofloxacin and prednisolone by the referring veterinarian. On referral, dehydration, depression and poor bodily condition were found on physical examination. Results of initial laboratory tests revealed mild anaemia, hyperkalaemia, hyponatraemia, hypochloraemia and elevations in serum creatinine and creatine kinase. The diagnosis of primary adrenocortical insufficiency was established on the basis of results of an adrenocorticotropic hormone (ACTH) stimulation test and endogenous plasma ACTH determination. Initial therapy for hypoadrenocorticism included intravenous administration of 0.9 per cent saline and dexamethasone, and oral fludrocortisone acetate. Within one week the cat was clinically normal and two years later was still alive and well on fludrocortisone acetate treatment only.
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PMID:Hypoadrenocorticism in a cat. 1132 66

Sex-linked muscular dystrophy associated with dystrophin deficiency has been reported in several breeds of dogs and is best characterized in the golden retriever. In this case report, a young, male Labrador retriever with dystrophin-deficient muscular dystrophy is presented. Clinical signs included generalized weakness, lingual hypertrophy, and dysphagia. Electromyographic abnormalities including complex repetitive discharges were present. Serum creatine kinase concentration was dramatically elevated. Histopathological changes within a muscle biopsy specimen confirmed a dystrophic myopathy, and dystrophin deficiency was demonstrated by immunohistochemical staining. While X-linked muscular dystrophy has not previously been reported in the Labrador retriever, a hereditary myopathy with an autosomal recessive mode of inheritance has been characterized. A correct diagnosis and classification of these two disorders are critical for breeders and owners since both the mode of inheritance and the prognosis differ.
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PMID:Dystrophin-deficient muscular dystrophy in a Labrador retriever. 1202 12

A 7-year-old female Labrador Retriever dog showed extreme muscular weakness, muscle wasting, dysbasia, and mild dysphagia. An elevated value of creatine kinase (335 IU/liter) in the serum was detected. Electromyographic findings included increased insertional activity, fibrillation potentials, and bizarre high-frequency repetitive potentials. Histopathologic examination of skeletal muscles revealed myofiber necrosis and phagocytosis, regeneration of myofibers, and perivascular, perimysial, and endomysial infiltrations of lymphocytes, macrophages and plasma cells. Immunohistochemical evaluation demonstrated that infiltrative cells in the early stage of myositis were CD8+ T-cells and that an increased expression of major histocompatibility complex (MHC) class I was apparent on the surface of nonnecrotic muscle fibers. In contrast, many CD3+ cells (T cells) and HLA-DR-positive macrophages and B lymphocytes were found in the severely affected areas. These results suggest that both expression of MHC class I and CD8+ T-cell infiltration may play an important role in initiation of myositis. These histopathologic findings resemble those reported in naturally occurring polymyositis in humans.
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PMID:Myofiber expression of class I major histocompatibility complex accompanied by CD8+ T-cell-associated myofiber injury in a case of canine polymyositis. 1212 58

The term acanthocytosis is derived from the Greek for "thorn" and is used to describe a peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis. Abetalipoproteinaemia is an autosomal recessive condition, characterised by absence of serum apolipoprotein B containing lipoproteins leading to fat intolerance and fat-soluble vitamin deficiency. This results in a progressive spinocerebellar ataxia with peripheral neuropathy and retinitis pigmentosa. Chorea-acanthocytosis is also an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, areflexia, seizures and dementia. Some of its features, including choreic movements, peripheral neuropathy with areflexia, elevated serum creatine kinase levels and myopathy are shared by another form of neuroacanthocytosis, McLeod syndrome. Patients affected by this X-linked disorder also show abnormal expression of Kell blood group antigens and a permanent haemolytic state. In addition to these cases, acanthocytosis is occasionally associated with other neurological disorders, such as Hallervorden-Spatz disease. For each of the neuroacanthocytosis syndromes we review the main clinical features and their molecular bases. The recent molecular genetics findings are the first step towards the understanding of the pathogenetic mechanisms and eventually the search for effective treatments.
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PMID:Clinical features and molecular bases of neuroacanthocytosis. 1218 48

Muscular dystrophy was diagnosed in seven male Japanese Spitz dogs with clinical signs of slowly progressive exercise intolerance, generalized weakness, myalgia, difficulty chewing and dysphagia. Serum creatine kinase (CK) concentrations were markedly elevated. Histopathology showed degeneration and regeneration of muscle, consistent with a dystrophic phenotype. Immunohistochemical staining for dystrophin and related proteins showed no staining with a monoclonal antibody against the rod domain of dystrophin but near-normal staining with an antibody against the C terminus. Immunoblot analysis in two affected dogs showed a truncated dystrophin protein of approximately 70-80 kDa. The severity of disease showed that this fragment was not large enough to protect from the dystrophic process.
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PMID:Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs. 1470 16

A retrospective study was performed on 200 randomly selected cases of inflammatory myopathy in dogs from diagnostic muscle biopsies received at the Comparative Neuromuscular Laboratory, University of California, San Diego. The most common clinical signs in dogs diagnosed with an inflammatory myopathy were generalized weakness, stilted gait, dysphagia, masticatory or generalized muscle atrophy, inability to open the jaw, megaesophagus, and dysphonia. Myalgia was rarely described. Age of onset ranged from 0.25 to 14 years. Genders were equally represented. Breed distribution approximated the 2002 American Kennel Club registration statistics (r = .85) with the notable exception of Boxers and Newfoundlands. From the results of muscle biopsies, clinical signs, and presence or absence of antibodies against type 2M fibers, dogs were classified as a generalized inflammatory myopathy (gIM)--including immune-mediated polymyositis; infectious and preneoplastic myositis; and, rarely, dermatomyositislike or overlap syndromes or unclassified myositis-or a focal inflammatory myopathy (flM)--including masticatory muscle and extraocular myositis. Average creatine kinase (CK) and aspartate aminotransferase (AST) concentrations in gIMs were significantly higher than those with fIMs (P < .05). Neoplasia developed in 12 of 200 dogs within 12 months of diagnosis of polymyositis, with lymphoma diagnosed in 6 of 32 Boxers. Inflammatory myopathy was associated with antibody titers against infectious diseases in 38 dogs. Neospora caninum and Hepatozoon americanum cysts were found in tissues of 2 dogs not serologically tested. Antibodies against an unidentified sarcolemmal antigen were found in 9 of 19 Newfoundlands with polymyositis. The spectrum of canine inflammatory myopathies can be broad, with infectious etiologies relatively common, and can include preneoplastic and uncharacterized syndromes.
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PMID:Canine inflammatory myopathies: a clinicopathologic review of 200 cases. 1551 85

A 78 year-old woman was admitted to our hospital because of subacutely progressive dysarthria, dysphagia, proximally dominant muscle weakness and erythema in the neck and back. She was diagnosed as having rheumatoid arthritis (RA) at the age of 60 and treated with bucillamine (BUC) for 8 years. Laboratory tests included a rheumatoid factor of 1,472U/ml. Serum creatine kinase level was slightly elevated. The activated T cells in the peripheral blood were markedly increased. Needle EMG demonstrated myogenic changes. The magnetic resonance image of the left upper arm showed diffuse muscle atrophy and inflammatory changes in the triceps muscle. The muscle biopsy revealed perivascular inflammatory cell infiltraton and type II fiber atrophy. A biopsy from the skin showed mild perivascular inflammatory cell infiltraton. According to the results of these findings, she was thought to have dermatomyositis due to BUC. After withdrawal of BUC followed by the administration of prednisolone 1mg/kg, her symptoms improved and activated T cells in the peripheral blood were decreased. In Japan, BUC is widely accepted as an effective drug in the treatment of RA, even though it is known to induce some autoimmune diseases. However, the mechanism of the development of autoimmune disease is unclear. We considered that the long-term use of bucillamine could trigger an autoimmune response such as an increase in activated T cells and the development of dermatomyositis-like clinical features in our patient. In conclusion, when RA patients treated with BUC show a clinical picture compatible with dermatomyositis, its causative relationship has to be considered.
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PMID:[Bucillamine-induced dermatomyositis-like clinical features in a patient with rheumatoid arthritis]. 1571 1


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