Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Joseph's disease is a hereditary ataxia found among descendants of Portuguese from the Azores Islands. We describe the clinical and pathological features of 4 members of a Japanese family who were diagnosed as having Joseph's disease. The illness began with cerebellar ataxia between the ages of 18 and 45 years. Nystagmus, dysarthria, and pyramidal signs were early manifestations. External ophthalmoplegia, dystonia and/or athetotic movements, and muscular atrophy appeared in the late stages. Neuropathological findings in one patient revealed degeneration of the dentatorubral and pallidoluysian systems, substantia nigra, pontocerebellar system, Clarke's column and spinocerebellar tracts, and anterior horn cells, as well as the cranial nuclei in the brainstem. Neurons in the inferior olivary nuclei, Purkinje's and granule cells, the cerebral cortex, thalamus, and striatum were spared. Involvement of the dentatorubral and pallidoluysian systems seems to be a characteristic feature of this disease in Japan.
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PMID:Joseph's disease: clinical and pathological studies in a Japanese family. 396 57

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