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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of this study was to examine the relationship between scaled speech intelligibility and selected acoustic variables in persons with dysarthria. Control speakers and speakers with amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD) produced sentences which were analyzed acoustically and perceptually. The acoustic variables included total utterance durations, segment durations, estimates of the acoustic vowel space, and slopes of formant transitions; the perceptual variables included scaled speech intelligibility and severity of speech involvement. Results indicated that the temporal variables typically differentiated the ALS group, but not the PD group, from the controls, and that vowel spaces were smaller for both neurogenic groups as compared to controls, but only significantly so for the ALS speakers. The relation of these acoustic measures to scaled speech intelligibility is shown to be complex, and the composite results are discussed in terms of sentence vs. single-word intelligibility estimates and their underlying acoustic bases.
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PMID:Acoustic and intelligibility characteristics of sentence production in neurogenic speech disorders. 1112 56

A 35-year-old man with a past history of achalasia developed progressive spastic tetraparesis, distal limb atrophy, dysarthria, and dysphagia. A clinical diagnosis of amyotrophic lateral sclerosis (ALS) was considered before neurophysiological investigation, which disclosed a polyneuropathy and a prolonged central conduction time. One year later, the patient developed dysautonomic symptoms. Following confirmation of adrenal insufficiency, a diagnosis of Allgrove syndrome was made. This is a rare case, and we emphasize its clinical similarity with ALS.
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PMID:Allgrove syndrome in adulthood. 1118 Feb 14

The aim of the study was to assess dysarthria in ALS subjects using acoustic speech analysis. The study was performed in 47 definite or probable ALS patients aged 29-76 years (mean age 53.7 yr.) and in 30 age and sex matched healthy control subjects. Neurological examination showed 15 dysarthric ALS subjects. Acoustic speech analysis is a quantitative, computer-acoustic method estimating dysarthria and based on assessing of sound distance from speech sound tests. In both group the mean sound distance between chosen sounds was compared to a basic pattern and was measured on time-frequency computer acoustic analyses (delta f = 125 Hz, delta T = 9 ms, delta s = 0.5 dB). Our results demonstrated that all sounds were incorrect in all ALS subjects. These abnormalities were significantly increased in the dysarthric ALS subjects. The mean sound distances which separated ALS from control subjects is 0.2 (by Euclidian principle) in 4 out of 5 measured sounds. We suggest that it is possible to detect and measure dysarthria in ALS patients based on the acoustic speech analysis, also in the limb onset ALS subjects.
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PMID:[Evaluation of dysarthria with the assistance of acoustic speech analysis in patients with amyotrophic lateral sclerosis]. 1125 76

A 71-year-old man developed dysarthria and difficulty of swallowing in December 1997. He was diagnosed as having the bulbar type of amyotrophic lateral sclerosis (ALS). In November 1998, he was admitted to our hospital to undergo treatment for bulbar palsy and respiratory discomfort. In January 1999, ventilatory support (synchronous intermittent mandatory ventilation) during sleep at night was initiated. Severe progressive hypotension and loss of consciousness were observed soon after the start of artificial respiration, and both symptoms disappeared after artificial respiration was discontinued. This phenomenon was observed consistently during ventilatory support, while unpleasant stimuli such as bronchoscopy and replacement of the cannula tube induced severe hypertension. To clarify the mechanism of underlying these abnormal changes in blood pressure, autonomic function tests were performed while awake during the daytime. Ventilatory support induced a drop in blood pressure accompanied by a decrease in influx speed to the right ventriculum, the latter of which suggested a reduction in venous return. These values returned to the baseline following detachment of the ventilator. A 60 degrees head-up tilt (HUT) angle and standing from a supine position produced orthostatic hypotension, the latter of which was accompanied by a compensatory increase in pulse rate. The basal supine plasma noradrenaline (NA) level was high and the HUT showed a slight elevation of NA. The basal supine plasma arginine vasopressin (AVP) level was within the normal range, whereas the AVP level did not increase during HUT. Urinary secretion rates of NA and 3-methoxy-4-hydroxy-phenylglycol were elevated. A cold pressor test demonstrated reflex hypertension. The oculovagal reflex, coefficient of variation of R-R intervals. (CVR-R) and increase in pulse rate in response to atropine administration were within the normal range. The combination of midodrine, L-dihydroxyphenylserine (DOPS) and increasing intravascular volume via continuous intravenous drip infusion relieved the circulatory collapse during artificial respiration. In conclusion, the present case of ALS had sympathetic hyperactivity, somatosympathetic reflex and dysregulation of the baroreflex arc. Degeneration of central autonomic network, including the hypothalamus and the central nucleus of the amygdala, which has been shown in some ALS patients, might underlie the autonomic abnormalities in this patient.
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PMID:[A case of amyotrophic lateral sclerosis presenting with circulatory collapse during artificial respiration]. 1125 87

We report an autopsy case of familial amyotrophic lateral sclerosis (FALS). The patient was a Japanese woman with hereditary burden. Family history revealed 12 patients with FALS over four generations. She developed muscle weakness of the proximal part of the upper extremities at age 42, followed by dysarthria, dysphagia, muscle weakness and atrophy in the lower extremities, spasticity, hyperreflexia and Babinski's sign. At age 44, she needed ventilatory support. At age 45, she died of bronchopneumonia. The total duration of the disease was three years and one month. Genetic study showed the absence of a mutation in the Cu/Zn superoxide dismutase-1 gene. Neuropathological examination revealed not only neuronal loss in the upper and lower motor neuron and Clarke's column, but also degeneration of the pyramidal tracts, middle root zone of the posterior column and posterior spinocerebellar tract. Bunina bodies and Lewy body-like inclusion bodies were absent. A few basophilic inclusion bodies were present in the neurons of the brain stem and anterior horn of the lumbar cord. Based on these clinical, genetic and pathological findings with a review of the literature, we concluded that our case was the first reported case of FALS with posterior column involvement and basophilic inclusion bodies.
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PMID:Familial amyotrophic lateral sclerosis with posterior column degeneration and basophilic inclusion bodies: a clinical, genetic and pathological study. 1132 97

Amyotrophic lateral sclerosis (ALS) is the most common form of degenerative motor neuron disease in adulthood. The clinical picture was accurately described by Charcot over 125 years ago and consists of generalized fasciculations, progressive atrophy and weakness of the skeletal muscles, spasticity and pyramidal tract signs, dysarthria, dysphagia, and dyspnea. Pseudobulbar affect is common. Disease-specific treatment options are still unsatisfactory. However, therapeutic nihilism is not justified as a large array of palliative measures is available to enhance the quality of life of patients and their families. Palliative care in ALS is a multidisciplinary effort requiring careful coordination. An open and frank disclosure of the diagnosis is of paramount importance. Nutritional deficiency due to pronounced dysphagia can be relieved by a percutaneous endoscopic gastrostomy. Respiratory insufficiency can be effectively treated by noninvasive home mechanical ventilation. The terminal phase of the disease should be discussed, at the latest, when symptoms of dyspnea appear in order to prevent unwarranted fears of "choking to death." Collaboration with hospice and completion of advance directives can be of invaluable help in the terminal phase.
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PMID:Clinical characteristics and management of ALS. 1144 24

A 60-year-old man who has suffered dysarthria since 1999. He had noticed twitching of right upper extremity and orbicularis oris muscle since August 2000. The bulbar type of amyotrophic lateral sclerosis was diagnosed. He was admitted for evaluation of sleep disorder with respiratory distress on November 20, 2000. Arterial blood gas analysis on admission showed marked hypercapnea (PaCO2:51.6 Torr). Nocturnal hypoxia index, which was calculated using the nocturnal oximetry monitoring, was elevated. Non-invasive positive pressure ventilation started during sleep at night, although it was earlier than to start for mechanical ventilation. After one week, both hypercapnea and his nocturnal hypoxia index, together with symptoms, improved markedly. Respiratory insufficiency due to progressive fatigue of respiratory muscles, such as diaphragm and intercostal muscles, is a major cause of death in amyotrophic lateral sclerosis. In general mechanical ventilation is introduced when marked hypercapnea and dyspnea become clinically overt. However, the exact time to introduce noninvasive methods of ventilatory support for amyotrophic lateral sclerosis has not been established. Based on the observation in this patient, we would suggest that earlier introduction of non-invasive mechanical support for ventilation (nocturnal hypoxia index > 70) would be useful to improve the symptoms and to prolong the life of patients with ALS. The nocturnal hypoxia index is useful to decide the time of the introduction of non-invasive mechanical support for ventilation.
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PMID:[Early treatment with non-invasive positive pressure ventilation a successful case of bulbar type amyotrophic lateral sclerosis]. 1177 29

Amyotrophic lateral sclerosis (ALS) is the most common, progressive motor neurone disease but is rare in the obstetric population. Only 4 cases have been described in the English literature since 1975. We describe a 29 year old woman who presented with ataxia, lower limb weakness and dysarthria 4 weeks after the birth of her first child. The symptoms had onset during the pregnancy but had not been considered remarkable. There were clinical features of upper and lower motor neurone involvement without any sensory loss. MRI of brain and spine was normal. CSF analysis was negative. EMG studies confirmed the presence of widespread anterior horn cell dysfunction compatible with ALS. The patient was commenced on Riluzole and has progressed clinically, at 12 months post diagnosis.
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PMID:Amyotrophic lateral sclerosis associated with pregnancy. 1179 21

Amyotrophic lateral sclerosis (ALS) is the most common degenerative motor neuron disease in adults. The clinical picture consists of generalized fasciculations, progressive atrophy and weakness of the skeletal muscles, spasticity and pyramidal tract signs, dysarthria, dysphagia, and dyspnea. Pseudobulbar affect is common. Disease-specific treatment options are still unsatisfactory. Therapeutic nihilism is not justified as a large array of palliative measures available to enhance the quality of life of patients and their families. Because of its clinical characteristics, ALS represents a paradigm for palliative care in neurological diseases. Numerous projects are being undertaken worldwide in an effort to enlarge the evidence base for palliative interventions in ALS. Palliative care in ALS is a multidisciplinary effort requiring careful coordination. An open and empathic disclosure of the diagnosis is essential. Nutritional deficiency caused by dysphagia can be relieved by a percutaneous endoscopic gastrostomy. Respiratory insufficiency can be effectively treated by non-invasive home mechanical ventilation. The terminal phase of the disease should be discussed at the latest when symptoms of dyspnea appear, in order to prevent unwarranted fears of "choking to death." Psychological and spiritual care of patients and families are important. Collaboration with hospice institutions and completion of advance directives can be of invaluable help in the terminal phase.
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PMID:Palliative care in amyotrophic lateral sclerosis. 1185 2

The aim of the present study was to investigate the involvement of frontal lobe dysfunction in amyotrophic lateral sclerosis (ALS) using ocular motor paradigms and neuropsychological testing. Fifty-one patients with ALS participated in the following ocular motor tasks: (1) a three-choice task and (2) a remembered saccade task. The patients underwent a clinical and neuropsychological evaluation. One-third of ALS patients presented with signs of frontal dysfunction, as determined by their high distractibility factors (DF) in the three-choice task and their performances in both the Wisconsin and Stroop tests. ALS patients exhibited longer latencies to eye movement than controls in the performance of the remembered saccade task, specifically in performance of both remembered and delayed saccades, but saccade accuracy was not impaired. Finally, performance indices of the ocular motor tasks, in particular the DF, was correlated only with the degree of dysarthria.
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PMID:Frontal lobe dysfunction in amyotrophic lateral sclerosis. 1186 70


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