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)

The authors report the case of an 8 year-old boy who, when he was 2 1/2 years old, suffered from spasmodic mouth twitches. At the age of four, various other symptoms appeared: psychomotor backwardness, frequent fails and a photomyoclonic response on electroencephalogram. At the age of 5 1/2, noticeable difficulties appeared in walking with a broad-based gait, hypotonia, and intentional trembling associated with hypokinesia and dysarthria. When he was six, the first convulsive seizure appeared, then myoclonies which became continuous. The child gradually became bedridden. The family history tends to show these disorders can be linked with a Huntington chorea affecting six generations. This case is very similar to that previously described by the authors, in an 8 year-old girl where an anatomic examination revealed the existence of lesions characteristic of Huntington's disease associated with lesions of the cerebellum. The authors, on the basis of the data provided by the literature, discuss the myoclonic and cerebellous aspect of this infantile form. Lacking anatomic evidence, they stress the interest of the biochemical disturbances affecting the cerebral monoamines noted in this observation.
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PMID:[Myoclonic type of Huntington's chorea (author's transl)]. 14 49

An autosomal dominant striatonigral degeneration is present in a family of Portuguese ancestry numbering in excess of 329 persons in eight generations. The illness begins in the second, third, or fourth decade, and progresses for about 15 years with parkinsonian rigidity, spasticity, spastic dysarthria, and abnormalities of eye movement. Neuropathologic findings are severe neuronal loss and astrocytic gliosis in the corpus striatum and substantia nigra, with a moderate neuronal loss in the dentate nucleus of the cerebellum and nucleus ruber of the midbrain. This is a new genetic entity, distinct from other autosomal dominant neurologic disorders such as nigrospinodentatal degeneration, olivopontocerebellar degeneration, dystonia musculorum deformans, Machado's disease, and Huntington's disease.
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PMID:Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. 94 67

Acoustic analyses of upper airway and phonatory stability were conducted on samples of sustained phonation to evaluate the relation between laryngeal and articulomotor stability for 31 patients with dysarthria and 12 non-dysarthric control subjects. Significantly higher values were found for the variability in fundamental frequency and format frequency of patients who have Huntington's disease compared with normal subjects and patients with Parkinson's disease. No significant correlations were found between format frequency variability and the variability of the fundamental frequency for any subject group. These findings are discussed as they pertain to the relationship between phonatory and upper airway subsystems and the evaluation of vocal tract motor control impairments in dysarthria.
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PMID:Vocal tract steadiness: a measure of phonatory and upper airway motor control during phonation in dysarthria. 140 31

Seventeen cases of Huntington's chorea have been studied on a clinical and anatomopathological basis. Fourteen genealogical trees have been established. Clinically, involuntary movements of choreic type and an impairment of higher brain functions are constant symptoms. Gait disorders, dysarthria and a tendinous hyperreflexia are usual (present in 95, 95 and 80% of cases). Anorexia, muscular hypotony and dysphagia are also frequent (present in 75, 60 and 50% of cases). The neuropathological examination shows macroscopically a neostriatal atrophy in 90% of cases and a cerebral cortical atrophy in 75%. Microscopically, a neuronal loss--mainly in small cells (Golgi II)--is evident in the neostriatum of all the cases. The pallidum is also affected, but to a lesser degree. A cortical cell loss is present in 90% of the cases, mainly in layers III, IV, V and sometimes also in layer VI of frontal and parietal lobes. In 75% of the cases, a cortical gliosis is noticed, mostly at the level of the frontal pole.
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PMID:[Huntington chorea. Anatomoclinical and genetic study of 17 cases]. 214 46

Because of its interactions at N-methyl-D-aspartate and haloperidol specific sigma receptors, dextromethorphan may have symptomatic or protective effects in Huntington's Disease (HD). Escalating doses of dextromethorphan in 11 HD patients produced side effects of dysarthria, rash, and incoordination. At maximum doses, performance declined on a variety of measures of HD, including functional rating scales and quantitative exam scores, consistent with dose-related side effects. Windows of symptomatic benefit were not found. Serum levels of dextromethorphan and its metabolites, including the active compound dextrorphan, showed atypical relationships to dose and side effects, suggesting complex pharmacokinetics. Although not beneficial symptomatically, further trials of dextromethorphan as protective therapy in HD may be warranted.
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PMID:An open label trial of dextromethorphan in Huntington's disease. 252 64

A family with hereditary non-Huntington's chorea is presented. Transmission was autosomal dominant with variable penetrance. Chorea commenced in childhood and affected predominantly the head, face and upper limbs. Dysarthria appeared later, followed in two family members by elements of an axial dystonia. There was no intellectual impairment. Unlike previously described families, symptoms progressed steadily up to the eighth decade, causing considerable physical disability.
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PMID:Hereditary progressive chorea without dementia. 296 12

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

Three cases of Huntington's chorea with onset before age 10 years are reported. Each child presented with rigidity and indistinct speech, and there was progressive deterioration. Necropsy examination confirmed the diagnosis in 2 of them. A review of reports showed a further 43 cases with onset before 10 years. The rigid variety of disease was seen most often, but isolated chorea and isolated progressive mental deterioration occurred. Fits were common but occurred late and were often difficult to control. Dysarthria was common and occurred early. The duration of illness was very variable and ranged from 2 to 38 years. Symptoms can occur in a child before appearing in the affected parent who is most likely to be the father. Affected siblings develop the disease early, often in the first decade. Siblings of patients with onset before age 10 years who are unaffected by age 25 years had only an 8% chance of developing the disease, compared with a 50% chance in unselected at risk individuals of the same age.
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PMID:Huntington's chorea. Report of 3 cases and review of the literature. 646 Dec 98

Duration measurements at the acoustic speech signal of sentence utterances including syllable lengths, vowel durations, and voice-onset-time (VOT) were performed in 13 subjects with Huntington's disease (HD) and in 12 control speakers. First, all 13 HD subjects presented with increased variability of utterance duration and/or VOT. Second, a subgroup had reduced speech tempo concomitant with overproportional lengthening of short vowels. Presumably, these deviations result from slowed movement execution (bradykinesia) and delayed between-movement transitions. Third, durational parameters of phonetic timing, e.g. stress contrast, were largely unimpaired. In a further patient (HD14) severely reduced articulatory accuracy did not allow acoustic measurements. He presented with truncated, barely intelligible, diphthongized sentence utterances. A slight tendency for these deviations could be noted in two of the HD subjects who underwent acoustic analysis. Since all three subjects had a rather long disease duration, this constellation might represent an advanced stage of HD dysarthria into which the other syndromes ultimately will develop.
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PMID:Acoustic analysis of speech timing in Huntington's disease. 795 13

A large Dutch family of 88 members, running through five generations, is described with benign hereditary chorea of early onset. The clinical presentation was heterogeneous. The chorea manifested in late infancy or childhood, interfered with writing, was non-disabling, stable or even improved in adulthood in most cases, but was slowly progressive with gait impairment in some. There was mild dysarthria and normal intelligence. EEG brain CT-scanning and MRI were normal. Huntington's disease was excluded by analysis of the I T 15 gene, which showed a normal number of the CAG trinucleotide repeats in two patients. It is concluded that benign hereditary chorea of early onset is an entity different from Huntington's disease and that in cases of early onset chorea the diagnostic accuracy is markedly improved by DNA testing.
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PMID:A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease. 883 92


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