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)

Language functions were studied in 6 patients with clinically diagnosed progressive supranuclear palsy who conformed to the characteristic pattern of 'subcortical dementia'. Dysarthria, reading difficulties and disturbances of handwriting were present in all patients. Some patients showed additional deficits including visual dyslexia, constructional dysgraphia and an increased rate of self-corrections and misnamings in object confrontation naming. In most instances, the naming errors referred to an object visually similar to the target object, suggesting that visual misperception is the major cause of the naming disorder. It is concluded that a variety of language impairments may develop secondary to other neurological and neuropsychological changes in progressive supranuclear palsy.
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PMID:Language functions in progressive supranuclear palsy. 206 60

Fifteen patients have been followed for more than one year following callosotomy having presented with long standing epilepsy, no well defined focus amenable to radical excision, and severely incapacitating atonic seizures that were refractory to anticonvulsant therapy. Atonic fits have been reduced by more than 80% in thirteen patients, with two patients suffering long term sequelae (slight dysarthria in one, and dyslexia with mild visuo-spatial disturbances in another). Anticonvulsant therapy was still required post-operatively.
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PMID:Callosotomy for the treatment of drug resistant generalized seizures. 212 84

A comprehensive language test battery (Aachen Aphasia Test) was administered to 45 patients in the early, middle or later stages of Huntington's disease (HD) and to 20 control subjects. In spontaneous speech, many HD patients exhibited a loss of conversational initiative. Dysarthria was a common finding. Reading skills were found to be impaired mainly as a consequence of dysarthria; some HD patients displayed visual dyslexia. In addition to the characteristic disturbances of writing skills due to the choreiform movement disorder, the writing of HD patients with advanced dementia indicated constructional dysgraphia, characterized by frequent omissions, perseverations and substitutions. HD patients exhibited no evidence of word-finding difficulty or other semantic deficits in spontaneous speech. There was, however, a marked impairment in visual confrontation naming, with a significant rise in naming error rate as the disease progressed in severity. In most instances, the inappropriate names referred to an object visually similar to the target object, suggesting that visual misperception is the major cause of the naming disorder in HD. Syntactical structure of spontaneous speech was typically reduced to short, simple sentence construction. Verbal stereotypes were only rarely encountered and occurred late in the course of the disease. Tests of language comprehension reflected the general degree of dementia. It is concluded that there are no primary language changes in HD. Instead, a variety of language impairments develop secondary to other neurological and neuropsychological changes.
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PMID:Language functions in Huntington's disease. 297 45

Dysarthria occurs in approximately 40% of all patients with MS. When speech and voice disturbances do occur, they usually present as a spastic-ataxic dysarthria with disorders of voice intensity, voice quality, articulation, and intonation. While language disturbances such as aphasia, auditory agnosia, anomia, dysgraphia, and dyslexia are very rare in MS, cognitive deficits and swallowing disorders are common. Treating dysarthria, dysphagia, and cognitive deficits in MS patients is effective for reestablishing functional daily activities. The types, severity, and rates of deterioration in MS are highly variable; complete restoration to normal functioning is therefore not always expected. For these reasons, careful documentation of clinical-treatment outcomes and the factors influencing these outcomes should be regularly collected and reported.
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PMID:Speech-language pathology and dysphagia in multiple sclerosis. 989 14

In 10 cases of 2p15p16.1 microdeletions reported worldwide to date, shared phenotypes included growth retardation, craniofacial and skeletal dysmorphic traits, internal organ defects, intellectual disability, nonverbal or low verbal status, abnormal muscle tone, and gross motor delays. The size of the deletions ranged from 0.3 to 5.7 Mb, where the smallest deletion involved the BCL11A, PAPOLG, and REL genes. Here we report on an 11-year-old male with a heterozygous de novo 0.2 Mb deletion containing a single gene, BCL11A, and a phenotype characterized by childhood apraxia of speech and dysarthria in the presence of general oral and gross motor dyspraxia and hypotonia as well as expressive language and mild intellectual delays. BCL11A is situated within the dyslexia susceptibility candidate region 3 (DYX3) candidate region on chromosome 2. The present case is the first to involve a single gene within the microdeletion region and a phenotype restricted to a subset of the traits observed in other cases with more extensive deletions.
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PMID:De novo microdeletion of BCL11A is associated with severe speech sound disorder. 2481 May 80