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)

External ophthalmoplegia, retinal pigmentary degeneration and heart block constitute the trias of Kearns-Sayre's syndrome. The aetiology of this disorder of oxidative metabolism is unknown. This syndrome must be more frequent than described. In the ENT field there is an extensive lack of differentiated data. Central neural and peripheral hearing disorders and vestibular disorders are in fact significant, as are also dysphagia, hoarseness and dysarthria in consequence of central and peripheral disorders in muscular function. The authors report on ENT findings in 4 patients with verified Kearns-Sayre's syndrome. Progression of central disorders enhances an unfavourable prognosis. Histochemical, biochemical and electron microscopic data are still lacking for the proper grading and assessment of clinical findings.
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PMID:[Kearns-Sayre syndrome from the otorhinolaryngologic viewpoint]. 660 92

A patient with polymyositis manifesting severe myocardial damage and conduction block is described. A 57-year-old man presented dysarthria, dysphagia, proximal-dominant muscle weakness and wasting of the extremities. Muscle biopsy revealed degeneration and regeneration of muscle fibers and infiltration of mononuclear cells. After admission, muscle weakness rapidly progressed and mechanical ventilation was needed for respiratory failure. Simultaneously, cardiac symptom developed and resulted in bradycardia and trifascicular conduction block, which required a pacemaker. Echocardiogram revealed diffuse hypokinesia, ventricular enlargement and thickened wall. Marked elevations of serum CK-MB, cardiac myosin light chain I and cardiac troponin T were observed. High dose administration of methylprednisolone resulted in improvement of muscular and cardiac symptoms, and prevented complete heart block. Immediate and high dose of steroid therapy was considered to be effective for severe myocarditis in polymyositis.
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PMID:[A patient of polymyositis with severe myocardial damage and conduction block]. 1039 Oct 81

Kearns-Sayre syndrome (KSS) is a multisystem mitochondrial disorder characterized by the invariant triad: onset before 20, progressive external ophthalmoplegia and pigmentary retinal degeneration, plus at least one of the following: complete (or not) heart block, cereberal dysfunction and CSF protein above 100 mg/dl. Autopsies from patients with KSS revealed widespread tissue distribution mtDNA deletions. These deletions result in significantly lower activities of the enzymes of the respiratory chain. The same deletion of mitochondrial DNA present in skeletal muscle is found in myocardial tissue. An 18-year-old girl diagnosed with the KSS was admitted to our hospital because of an upper respiratory tract infection and dysphagia. ECG showed cardiac conduction defects. The patient had no history of syncope. At her surface ECG there was a complete RBBB (QRS duration approximately 130 ms), a clockwise rotation with an axis of approximately 90 degrees and a slight QT prolongation (420 ms). Echocardiography showed prolapse with thickening and degeneration of both mitral valve leaflets but without mitral regurgitation. The patient was started on a diet rich in potassium and pharmaceutical therapy with magnesium oxide (240 mg of elemental Mg p.o. per day), 1 g of calcium carbonate t.i.d., vitamin D (calcitriol 0.25 microg p.o. per day) and coenzyme Q(10) 100 mg daily and discharged 6 days later with slightly improved biochemical profile but apparent clinical improvement. Urgent pacemaker implantation was decided but unfortunately the patient died due to acute cardiac arrest 10 days later.
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PMID:Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayre syndrome. 1200 93