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)

Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease, characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, Babinski sign, loss of position and vibration senses, cardiomyopathy, and carbohydrate intolerance. It is the most common inherited ataxia, and is associated with a GAA triplet repeat expansion in the first intron of the X25 gene on the long arm of chromosome 9. We present a case whose clinical diagnosis was initially confounded by the mildness of the ataxic phenotype and a family history of multiple sclerosis. Evaluation of the X25 gene revealed that the patient was homozygous for the GAA triplet repeat expansion, pathognomonic of FRDA. Investigation of her sural nerve biopsy revealed a significantly smaller expansion size, constituting the first direct demonstration of somatic mosaicism involving the nervous system in FRDA. We speculate that a similar contraction in pathologically affected tissues could be the molecular basis for the mildness of the ataxia.
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PMID:A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism. 948 68

A 39-year-old man with episodic ataxia with nystagmus (EA-2) was reported. He showed intermittent cerebellar dysfunction, i.e., ataxia, nystagmus, dysarthria and vertigo, since he was 10 years old. Although this attack lasted for several hours, he was normal with exception of interictal nystagmus. His parents and sister showed no episodic ataxia. We ruled out the diseases, which may cause episodic ataxia, such as multiple sclerosis, vascular disorders, metabolic disorders and congenital anomalies. He was released from the attack by treatment with acetazolamide. EA-2 has been associated with mutations in the alpha 1A-voltage dependent calcium channel gene (CACNL1A4), which is also affected in familial hemiplegic migraine (FMH) and spinocerebellar ataxia type 6 (SCA6). In EA-2, frame-shift mutation leading to premature stop and splice-site mutation leading to truncated, non-functional channel protein have been reported. However, our patient did not have the mutations in the CACNL1A4 gene that were previously reported. In addition, our patient did not have an expanded CAG allele in the CACNL1A4 gene which is responsible for SCA6. Further examination is required to address whether a new mutation exists in the CACNL1A4 gene in our patient.
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PMID:[A sporadic case of episodic ataxia with nystagmus (EA-2)]. 980 92

Several symptom complexes in multiple sclerosis (MS) are found in unusual circumstances but are characteristic of the disease. Most of these are amenable to treatment and will be confronted by the physiatrist treating patients who have MS. This article begins by addressing paroxysmal symptoms such as trigeminal neuralgia, paroxysmal dysarthria and ataxia, parathesia and pain, paroxysmal itching, and akinesia. Seizures, adventitious movements, fatigue, and complications related to pregnancy also are addressed.
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PMID:Multiple sclerosis potpourri. Paroxysmal symptoms, seizures, fatigue, pregnancy, and more. 989 8

Hallervorden-Spatz disease (HSD) is an extremely rare degenerative process. The familial studies point to inherited, autosomal recessive neurodegenerative disorder. Quite recently this disease gene has been identified to chromosome 20p12.3-p13. Clinical manifestations of HSD leading to death after several years of illness are most frequently observed in childhood. HSD in adults is very scarce. The case reported concerns a woman who at the age of 26 years began to suffer from slowly progressing psycho-organic syndrome with muscular rigidity, involuntary movements and dysarthria. The patient was hospitalized several times with successive diagnoses of multiple sclerosis, amyotrophic lateral sclerosis and Huntington's disease. Shortly before death magnetic resonance imaging (MRI) scan showed a decreased signal in both basal ganglia. The patient died at the age of 34 years after an eight-year illness. In the brain autopsy symmetric hyperpigmentation of globus pallidus (GP) and reticular part of substantia nigra (SN) was found. The microscopic observation revealed abundant deposits of brown pigment mostly in GP and SN. In addition, numerous spheroids disseminated in the basal ganglia, mesencephalon and medulla oblongata, as well as Lewy bodies in SN were noted. Pigment deposits expressed intensive iron positive reaction by Perls' Prussian-blue method. Based on the described neuropathological changes occurring mostly in GP and SN, Hallervorden-Spatz disease was diagnosed.
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PMID:Hallervorden-Spatz disease in an adult patient. 1070 43

Few attempts have been made to use degree and type of multiple sclerosis (MS) dysarthria in neurological evaluation. In the present study, 77 individuals drawn from an MS population were examined both by a speech pathologist and a neurologist, and data from three sources of information were subsequently combined: (1) a clinical dysarthria test procedure, (2) a perceptual analysis of speech characteristics in continuous speech, and (3) neurological deficit scoring. The speech of 15 age- and gender-matched healthy control subjects was also investigated. It was concluded that: (1) the prevalence of mild to severe dysarthria in this cohort was 51% and occurred in all components of speech production: respiration, phonation, prosody, articulation and nasality. (2) The clinical dysarthria test was sensitive in detecting subclinical speech signs. The prevalence of pathologic speech signs found on the basis of the test was found to be 62%. The prevalence of dysarthria based on the neurological evaluation alone was 20%. (3) The dysarthria of MS was a predominantly mixed dysarthria, with both ataxic and spastic speech signs frequently present in the speech of a given individual. (4) Furthermore, when a predominant type of dysarthria existed, it was not generally associated with a characteristic profile of neurological deficits. Rather, severity of speech deviation was positively correlated to overall severity of neurological involvement, type of disease course, and number of years in progression.
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PMID:Prevalence and characteristics of dysarthria in a multiple-sclerosis incidence cohort: relation to neurological data. 1078 9

A Case of Marchiafava-Bignami disease demonstrated by MR diffusion-weighted image (DWI) was reported. A 55-year-old male with chronic alcoholism demonstrated dysarthria, disorientation and apraxia of left-hand. Sagittal view on MRI showed a swelling of the corpus callosum. The body and splenium of the corpus callosum showed symmetrically iso-intensity in T1 WI and hyperintensity in T2 WI, and remarkable hyperintensity in fluid attenuated inversion recovery images. DWI showed a definite hyperintensity area on the corpus callosum and the apparent diffusion coefficient (ADC) map presented the decreased water self-diffusion. These findings differed from the other demyelinating diseases, such as multiple sclerosis. We considered these DWI findings were the initial changes on MBD which preceded the demyelination. To our knowledge, this is the first report of DWI that was used in a case of Marchiafava-Bignami disease.
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PMID:[A case of Marchiafava-Bignami disease demonstrated by MR diffusion-weighted image]. 1093 26

'Scanning speech' has been used as a description of a prominent characteristic of the dysarthria of multiple sclerosis (MS) as well as of ataxic dysarthria in general. It is thought to be measurable as equalized syllable durations. There are seemingly contradictory prosodic-temporal characteristics of ataxic dysarthria: perceptually characterised as prosodic excess as well as phonatory-prosodic insufficiency and acoustic characteristics including signs of isochrony as well as variability. This study investigates the temporal characteristics at two levels, duration and variability of syllable durations and the durations of interstress intervals. A group of 14 individuals with MS and ataxic dysarthria as well as 15 control subjects were studied. It was concluded that individuals with ataxic dysarthria and MS showed (a) for syllables: significantly increased durations and decreased intrautterance variability (more isochrony or syllable equalization) as well as significantly increased interutterance variability; (b) for interstress intervals: significantly increased durations and increased variability (less isochrony). The results point to inflexibility as well as instability of temporal control, which could contribute to the explanation of why the perceptual characteristics are contradictory.
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PMID:Temporal speech characteristics of individuals with multiple sclerosis and ataxic dysarthria: 'scanning speech' revisited. 1096 76

One hundred patients with definite multiple sclerosis, who were randomly selected from a multiple sclerosis unit in London, were examined in order to study the prevalence, subtypes, clinical features and associated disability of tremor in this population. There were 35 males and 65 females with an average age of 47 years and an average disease duration of 18.8 years. The mean tremor duration was 13 years, with a median latency of 11 years from disease onset to appearance of tremor. Tremor was reported in 37 patients but was detected in 58. Tremor affected the arms (56%), legs (10%), head (9%) and trunk (7%). There were no examples of face, tongue or jaw tremor. All the patients had action tremor, either postural or kinetic (including intention). Rest, Holmes' ('rubral') and primary orthostatic tremors were not encountered. Tremor severity ranged from minimal in 27%, to mild in 16% and moderate or severe in 15% of cases. Tremor severity correlated with the degree of dysarthria, dysmetria and dysdiadochokinesia but not with grip strength. In order to determine the clinical characteristics of these tremors, the action tremors of the upper limbs were subclassified according to the predominant site and state of tremulous activity. Of the 50 patients with tremor in the right arm, 32% had distal postural tremor, 36% had distal postural and kinetic tremor, 16% had proximal postural and kinetic tremor; 4% had proximal and distal postural and kinetic tremor and 12% isolated intention tremor. Twenty-seven percent of the overall study population had tremor-related disability and 10% had incapacitating tremor. Patients with abnormal tremor (severity grade >1/10) were more likely than those without tremor to be wheelchair dependent and have a worse Expanded Disability Systems Score, but Barthel activities of daily living indices and cognitive scores were comparable in the two groups.
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PMID:A study of tremor in multiple sclerosis. 1128 72

Clinical dysarthria test scores on lip function and tongue function were compared for 77 dysarthric as well as non-dysarthric subjects with multiple sclerosis (MS) and 15 control subjects. Results show that tongue function was significantly more severely affected than lip function in individuals with MS. Furthermore, tongue function, but not lip function, was significantly more severely affected in the MS individuals with no dysarthria compared to the control group. Test items requiring increased rate of movement (oral and verbal diadochokinesis) were significantly more severely affected than the items requiring range and force of movement, but only in the dysarthric MS subgroup. Moderate correlations were found between tongue and lip function and neurological deficit scores, number of years in disease progression, and perceptually perceived consonant and vowel precision. Consequently, tongue dysfunction can be detected clinically and subclinically using a dysarthria test procedure, and as an early sign of articulatory dysfunction it should be an early target in therapeutic interventions.
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PMID:Lip and tongue function differently affected in individuals with multiple sclerosis. 1256 61

The aims of the present study were to compare the perceptual assessments of deviant speech signs (dysarthria) exhibited by Australian and Swedish speakers with multiple sclerosis (MS) and to explore whether judgements of dysarthria differed depending on whether the speakers and the judges spoke the same or different languages. Ten Australian and 10 Swedish individuals with MS (matched as closely as possible for age, gender, progression type and severity of dysarthria) were assessed by 2 Australian and 2 Swedish clinically experienced judges using a protocol including 33 speech parameters. Results show that the following perceptual dimensions were identified by both pairs of judges in both groups of speakers to a just noticeable or moderate degree: imprecise consonants, inappropriate pitch level, reduced general rate, and glottal fry. The reliability (Spearman rank-order correlation) of the consensus ratings from the Australian and the Swedish judges was high, with a mean rho of 85.7 for the Australian speakers and mean rho of 84.3 for the Swedish speakers. The most difficult perceptual parameters to assess (i.e. to agree on) included harshness, level of pitch and loudness, precision of consonants and general stress pattern. The study indicated that perceptual assessments of speech characteristics in individuals with MS are informative and can be achieved with high inter-judge reliability irrespective of the judge's knowledge of the speaker's language.
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PMID:Comparability of perceptual analysis of speech characteristics in Australian and Swedish speakers with multiple sclerosis. 1280 90


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