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)

A 65-year-old man who had muscle weakness and dysarthria was admitted for investigation of motor neuron disease. He had lost 12 kg of weight in 6 months. Neurological findings disclosed upper and lower motor neuron disturbances with normal sensory nerve function, and needle electromyography showed a neurogenic pattern. Laboratory findings on admission demonstrated dilutional hyponatraemia due to an excessive secretion of antidiuretic hormone (ADH). Based on these findings, the patient was diagnosed as having the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) associated with amyotrophic lateral sclerosis (ALS). During the night of first hospital day, the patient complained of severe dyspnoea, and mechanical ventilation was commenced. Following the mechanical ventilation, plasma ADH levels and serum sodium concentration were normalized. We propose that respiratory failure secondary to the atrophy of respiratory muscle might be responsible for the development of SIADH.
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PMID:Syndrome of inappropriate secretion of antidiuretic hormone associated with amyotrophic lateral sclerosis in respiratory failure. 1038 39

Four patients with clinical diagnosis of amyotrophic lateral sclerosis syndrome and laboratory results of hyperthyroidism were reported. There were 3 women aged 27, 59, 59 years and 1 man aged 50 years. All of them had symptoms and signs of dysarthria and dysphagia, fasciculations of the tongue, muscle weakness with generalized hyperreflexia. After treatment with antithyroid drugs, motor weakness and dysphagia improved.
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PMID:Amyotrophic lateral sclerosis syndrome and hyperthyroidism: report of 4 patients. 1044 86

Adult motor neuron disease (amyotrophic lateral sclerosis [ALS]) is a neurodegenerative disorder characterized by loss of motor neurons in the cortex, brain stem, and spinal cord, manifested by upper and lower motor neuron signs and symptoms affecting bulbar, limb, and respiratory musculature. Clinically, the disease course is characterized by progressive weakness, atrophy, spasticity, dysarthria, dysphagia, and respiratory compromise, ultimately resulting in death or mechanical ventilation in the vast majority of patients. Patterns of presentation and pathological features of the disease, along with clinical and electrophysiologic criteria for diagnosis, are discussed in this review. Since 8% to 22% of patients survive more than 10 years without ventilator use, meticulous medical and rehabilitation management is extremely important to ensure optimal health and quality of life in these patients. Major issues in the care of individuals with ALS include weakness and spasticity, impairments in activities of daily living and mobility, communication deficits and dysphagia in those with bulbar involvement, respiratory compromise, fatigue and sleep disorders, pain, and psychosocial distress. Research in ALS changes rapidly, but is currently focused on potential etiologic factors such as glutamate excitotoxicity, role of oxidative stress, autoimmunity to calcium channels, and cytoskeletal abnormalities, as well as related treatment initiatives including glutamate modulators, neurotrophic factors, antioxidants, antiapoptotic factors, and gene therapy. Recently, mutations in the gene encoding Cu/Zn superoxide dismutase were identified in a subset of familial ALS patients. Riluzole, a glutamate antagonist and Na-channel blocker, became the only drug currently approved for treatment of ALS after studies showed a small positive effect on survival. Until a definitive treatment or cure for ALS is found, the multifaceted rehabilitation team approach remains the best hope for improving health and survival in this devastating illness.
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PMID:Evaluation and rehabilitation of patients with adult motor neuron disease. 1045 74

Dysarthria is a leading disability in ALS patients with motor neurone degeneration in the bulbar region. Although different approaches have been tried in the past, currently, no test is available to detect and follow the progression of dysarthria. We studied 53 patients with definite (n=27) or probable (n=26) ALS (the bulbar onset group n=15, the limb onset group n=38, mean age 53. 66/29-76 years/) according to El Escorial criteria. Each patient was seen by a neurologist every 10-12 weeks and clinical performance was assessed using the Norris scale. To evaluate dysarthria we developed a computer-based acoustic method. All patients had computer-analysed speech sound tests done three times. The most significantly affected vowels were selected for further studies. A method based on the Euclidian principle was used and the results were compared with 30 age, sex-matched, healthy control subjects. Our results demonstrated the existence of a specific dysarthria profile in ALS patients with most significantly affected vowels: 'B', 'O', 'I', 'W', 'T' in the bulbar group, and: 'B', 'I', 'T', 'W', 'O' in the limb group. This study suggests that it is possible to detect and monitor the progression of the disease based on the acoustic analysis of only several sounds. Abnormalities detected in the dysarthria profile may appear prior to any clinical symptoms of the disease.
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PMID:Acoustic analysis of dysarthria profile in ALS patients. 1054 5

This report concerns an autopsy case of amyotrophic lateral sclerosis (ALS) with unusual clinical and neuropathological findings. The patient was a Japanese man without hereditary burden who was 49 years old at the time of death. His clinical manifestation included dysarthria at age 48, followed by dysphagia, atrophy and fasciculation of the tongue, muscle weakness in the four extremities, tremor, rigidity, increased deep tendon reflexes in the upper and lower extremities, and incoordination of the four extremities. He died of respiratory failure 12 months after the disease onset. No respirator administration was performed throughout the clinical course. The neuropathological examination revealed not only degeneration of upper and lower motor neuron systems, including the presence of Bunina bodies and ubiquitin-immunoreactive neuronal inclusions in the lower motor neurons, but also prominent degeneration of the substantia nigra and dentate nucleus with slight neuronal loss in the locus ceruleus and pontine nucleus. To our knowledge, this is the first reported case of sporadic ALS without dementia and respirator support, showing degeneration of the substantia nigra and dentate nucleus. This report may contribute to the resolution of the question concerning the neuropathological heterogeneity of sporadic ALS with respiratory support.
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PMID:Sporadic amyotrophic lateral sclerosis with multiple system degeneration: a report of an autopsy case without respirator administration. 1054 75

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

Studies describing acoustic characteristics of speech produced by individuals with dysarthria may help to explain intelligibility deficits for these speakers. One goal of the current study was to investigate the manner and extent to which nine speakers with mild to moderate dysarthria associated with amyotrophic lateral sclerosis (ALS) and nine healthy speakers acoustically distinguished /i/, /ae/, /u/, and /a/ in content and function words. A further aim was to evaluate the relationship between impaired speech in ALS and the magnitude of acoustic differences for vowels in content and function words. Speakers read the Farm Passage at a comfortable or habitual rate. F1 and F2 midpoint frequencies were measured, and vowel space areas were calculated. Vowel durations also were measured. The magnitude of F1, F2, vowel space area, and duration differences for vowels in content and function words was not statistically different for speakers with ALS and healthy controls. In addition, with the exception of /i/ produced by some speakers with ALS, vowel duration tended to be shorter in function words. Average F1 and F2 values for function words also tended to be centralized relative to content words. Although vowel space area differences for the two speaker groups were not statistically significant, there was a tendency for the difference in vowel space area for content and function words to be smaller for speakers with ALS than for controls. Regression analyses further indicated that the magnitude of temporal differences for vowels in content and function words was a better predictor of impaired speech than the magnitude of spectral differences for vowels in content and function words. One clinical implication is that individuals with ALS may benefit from therapy techniques targeting temporal properties of the acoustic signal.
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PMID:Acoustic differences between content and function words in amyotrophic lateral sclerosis. 1087 44

Dysarthria is an invalidating disability in ALS patients with motor neuron degeneration in the bulbar region. The methods to assess dysarthric disorders in ALS are seldom described in publications. This study was performed in 43 patients who had definite (n = 23) or probable (n = 20) ALS (of the bulbar group n = 15, of the limb group n = 28, mean age = 57.07 (range: 36-69 yr.)) according to WFN criteria. The method based on quantitative tests of dysarthria profile (by Robertson, 1986) was used and the results were compared with 37 age, sex-matched, healthy control subjects. Our study showed the existence of disturbances in all dysarthria profile tests which were of the statistic significance and more frequent as compared to the control subjects (p < 0.01). The analysis showed that quantitative assessment of some dysarthria profile tests (5 out of 8) might be useful in clinical practice to detect dysarthria in ALS patients. Using the dysarthria profile tests we also demonstrated that preclinical dysarthric processes occur among the limb ALS group.
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PMID:[The application of dysarthria profile tests in ALS patients for the detection of speech disturbances]. 1096 20

The current study explored the acoustic and perceptual effects of speaking rate adjustments in persons with amyotrophic lateral sclerosis (ALS) and in neurologically normal individuals. Sentence utterances were obtained from the participants at two self-selected speaking rates: habitual and fast. Total utterance durations, segment durations, and vowel formant frequencies comprised the acoustic measures, whereas magnitude estimates of speech intelligibility and severity of speech involvement were the perceptual measures. Results showed that participants in both the neurologically normal and ALS groups were able to increase their speaking rate when asked to do so, but that the participants with ALS were significantly slower than the neurologically normal participants at both rates. Both groups of participants also showed compression of the acoustic vowel space with increased speaking rate, with the vowel spaces of participants with ALS generally being more compressed than the vowel spaces of neurologically normal participants, at either rate. Most importantly, the perceptual measures failed to show any effect of the speaking rate adjustment on scaled intelligibility or severity, for either group. These findings are discussed relative to the general issue of slow habitual speaking rates among many speakers with dysarthria, and possible explanations for the slowness. The lack of an effect of increased rate on the perception of the speech deficit among speakers with ALS argues against the idea that the habitually slow rates are a form of compensation to reduce the complexity of speech production.
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PMID:Effect of speaking rate manipulations on acoustic and perceptual aspects of the dysarthria in amyotrophic lateral sclerosis. 1096 74

We report a Japanese family with autosomal dominant adult-onset amyotrophic lateral sclerosis (FALS) with onset in the bulbar musculature, clinically benign course, absence of the Cu/Zn superoxide dismutase-1 (SOD 1) gene mutation, and many Bunina bodies, in addition to involvement of the upper and lower motor neurons. The proband was a Japanese woman who was 66 years old at the time of death. Family history disclosed five patients with FALS over three generations. She developed dysarthria at age 57, followed by dysphagia, muscle weakness of the upper extremities, and difficulty in respiration. She could walk without support until her death. The elder sister of the proband developed dysarthria at age 48 and died at age 58. A genetic study of the nephew of the proband showed the absence of a mutation in the SOD 1 gene. Neuropathological examination of the proband disclosed neuronal loss in the upper and lower motor neurons, and numerous Bunina bodies in the lower motor neurons without Lewy body-like inclusions or ubiquitin-immunoreactive neuronal inclusions. No degeneration of the Clarke's column, middle root zone of the posterior column, or posterior spinocerebellar tract was present. Review of the literature revealed that only patients with FALS with a long survival period of over 5 years had pathological findings consistent with FALS with posterior column involvement. This study contributes to the elucidation of the clinicopathological heterogeneity of FALS.
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PMID:Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family. 1107 11


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