Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with amyotrophic lateral sclerosis (ALS) have symptoms of progressive muscle weakness, of disturbed speech and swallowing, and in the terminal phase those of respiratory weakness. Treatment options, in particular those for excessive weight loss and respiratory weakness, should be introduced to the patients and their families when the patient is emotionally capable and before dysarthria severely hampers communication. Special equipment for keeping the patient as mobile as possible should be made available much earlier than in the case of other diseases of the muscles as in ALS progression is much faster. Cramps, pathological crying or laughter, spasms, and spasticity can all be treated by medication. When speech can no longer be understood, adaptive strategies such as sign language, mime, posture and communication apparatus varying from a note pad to advanced computer systems can be used. Sialorrhoea, caused by difficulty swallowing with its accompanying danger of aspiration can be halted by the use of medication, by radiotherapy and by the injection into the salivary glands of botulin A toxin. Weight loss, also a result of dysphagia, can be avoided by eating frequent small meals or if necessary performing a percutaneous endoscopic or radiological gastroscopy. Excess mucus in the respiratory tract can be treated with anticholinergics. Difficulty in coughing up thick and sticky mucus cannot always be adequately helped. Respiratory weakness is treatable by external respiratory supportive therapy using a nasal mask, as well as invasive respiratory support via a trachcostoma and by treating the symptoms of respiratory weakness. The latter form of treatment is palliative and forms part of terminal care. During the terminal phase restlessness, anxiety, pain, and dyspnoea require the most attention. Treatment requires careful multidisciplinary cooperation.
 ...
PMID:[The symptomatic treatment of amyotrophic lateral sclerosis]. 1519 69

Strained, strangled, and tremulous vocal qualities that are typically seen in adductor spasmodic dysphonia (ADSD), voice tremor (Tremor), and the spastic dysarthria of amyotrophic lateral sclerosis (ALS) may sound similar and be difficult to differentiate. The purpose of this study was to determine if these vocal qualities of neurologic origin could be differentiated on the basis of acoustic and motor speech parameters. Three groups of subjects (ADSD, ALS, and Tremor) were analyzed by the Motor Speech Profile System (Kay Elemetrics, Lincoln Park, NJ) for fundamental frequency (Fo), standard deviation of Fo, diadochokinetic rate (ddk), standard deviation of ddk, mean intensity and standard deviation of ddk, frequency and amplitude variability in connected speech, and speaking rate in connected speech. Profiles of the three groups are presented with the significant features that differentiated one from the other.
 ...
PMID:Spastic/spasmodic vs. tremulous vocal quality: motor speech profile analysis. 1507 Feb 35

This report concerns an autopsy case of sporadic amyotrophic lateral sclerosis (ALS) clinically diagnosed as having spinal progressive muscular atrophy (SPMA). The patient was a Japanese woman without hereditary burden. She developed muscle weakness in the distal part of the right upper extremity at age 52, followed by muscle weakness in the left upper extremity and lower extremities at age 54 and 64, respectively. At age 66 she could not walk, even with assistance. Fasciculation and atrophy of the tongue appeared at age 68, followed by dysphagia and dysarthria at age 70. She died of respiratory disturbance at age 71. During the clinical course, neurological examination revealed neither Babinski sign nor hyperreflexia. No respirator administration was performed throughout the clinical course. Neuropathological examination disclosed not only neuronal loss with gliosis in the hypoglossal nucleus and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tract. Based on these clinicopathological findings and a literature review of sporadic autopsy cases of ALS with long clinical course (10 years or more), including four cases without pyramidal signs, we believe that sporadic ALS of long clinical course mimicking SPMA exists.
 ...
PMID:Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy exists: additional autopsy case with a clinical course of 19 years. 1548 1

The bulbar symptoms of amyotrophic lateral sclerosis (ALS) include difficulty with the management of swallowing, saliva production, aspiration of secretion to the air ways and problems with spoken communication. These symptoms originate from the malfunction of the face muscles and pharynx sphincters. Patients with early symptoms of bulbar ALS are often referred to the otolaryngologist for the evaluation and management of dysphagia and dysarthria. The bulbar onset of ALS with hypernasality, articulation defects and voice harshness make the otolaryngologists the primary diagnostician for these signs. Careful examination of the speech quality and morphology as well as the function of vocal cords should be undertaken. Once the diagnosis of ALS is made, the otolaryngologist's involvement in medical treatment is necessary at different stages of the disease.
 ...
PMID:[The importance of laryngological and phoniatric evaluation at the early stage of amyotrophic lateral sclerosis]. 1556 32

Bulbar palsy is unusual as an initial manifestation of amyotrophic lateral sclerosis (ALS), although common in the advanced stages. In terms of bulbar palsy as a presenting symptom, dysarthria and dysphagia are of common features. Hoarseness, however, is an initial symptom of ALS in only a small number of patients. We report a 43-year-old female with hoarseness due to bilateral vocal cord paralysis as the first manifestation of ALS. Gene analysis revealed a heterozygous missense mutation in the SOD1 gene, which resulted in an amino acid substitution of isoleucine 149 by threonine. Hoarseness can be the initial symptom of ALS. Therefore, in cases of bilateral vocal cord paralysis of unknown etiology, ALS should be taken into consideration.
 ...
PMID:Hoarseness due to bilateral vocal cord paralysis as an initial manifestation of familial amyotrophic lateral sclerosis. 1603 38

We report a 69-year-old man who developed paralytic poliomyelitis in childhood and then decades later suffered from fatal respiratory failure. Six months before this event, he had progressive weight loss and shortness of breath. He had severe muscular atrophy of the entire right leg as a sequela of the paralytic poliomyelitis. He showed mild weakness of the facial muscle and tongue, dysarthria, and severe muscle atrophy from the neck to proximal upper extremities and trunk, but no obvious pyramidal signs. Electromyogram revealed neurogenic changes in the right leg, and in the paraspinal, sternocleidomastoid, and lingual muscles. There was a slight increase in central motor conduction time from the motor cortex to the lumbar anterior horn. Pulmonary function showed restrictive ventilation dysfunction, which was the eventual cause of death. Some neuropathological features were suggestive of amyotrophic lateral sclerosis (ALS), namely Bunina bodies. In patients with a history of paralytic poliomyelitis who present after a long stable period with advanced fatal respiratory failure, one may consider not only respiratory impairment from post-polio syndrome but also the onset of ALS.
 ...
PMID:Respiratory failure in a patient with antecedent poliomyelitis: amyotrophic lateral sclerosis or post-polio syndrome? 1616 67

It has been hypothesized that lax vowels may be relatively unaffected by dysarthria, owing to the reduced vocal tract shapes required for these phonetic events (G. S. Turner, K. Tjaden, & G. Weismer, 1995). It also has been suggested that lax vowels may be especially susceptible to speech mode effects (M. A. Picheny, N. I. Durlach, & L. D. Braida, 1986). Studies evaluating these suggestions are lacking, however. The present study was an initial investigation of the vowel space area formed by the lax vowels /Iota/, /epsilon/, and /upsilon/, occurring in a passage read in habitual, fast, and slow conditions by speakers with amyotrophic lateral sclerosis (ALS), speakers with Parkinson's disease (PD), and healthy controls. Vowel space areas for speakers with ALS but not speakers with PD differed from those for the appropriate control group. Thus, only the results for the PD group support the hypothesis that lax vowel space areas for speakers with dysarthria should be similar to those for neurologically normal talkers. Compared with the habitual condition, rate reduction was associated with an expanded vowel space area for all of the healthy talkers but for only about half of the speakers with dysarthria. In addition, about half of the speakers in each group demonstrated a reduced vowel space area for the fast condition relative to the habitual condition, although the statistical analyses indicated no difference in vowel space areas for the fast and habitual conditions. The current study therefore provides only limited support for the idea that lax vowels are highly susceptible to speech mode effects, at least when the speech modes under consideration include faster-than-normal and slower-than normal rates. Clinical implications are discussed.
 ...
PMID:Characteristics of the lax vowel space in dysarthria. 1619 72

A 52-year-old woman developed dysarthria and dysphagia in April 1997, then experienced progressive weakness in her arms and legs several months later, which led to a diagnosis of amyotrophic lateral sclerosis (ALS). In October 1998, the patient was placed on respiratory support and thereafter in a bedridden state. On December 6, 2004, the patient suddenly fell into cardiogenic shock. An echocardiographic examination demonstrated extensive akinesis of the left ventricle together with the hyperkinetic constraction of the cardiac base. The left ventricular akinesis completely returned to normal by December 13. Based on our these results and her clinical course, we made a diagnosis of "Takotsubo" cardiomyopathy. This is the first case reported to have developed this condition in an ALS patient on long-term respiratory support. Physicians should be aware of the potential risk of developing "Takotsubo" cardiomyopathy in respirator-dependent ALS patients.
 ...
PMID:[Transient left ventricular apical ballooning, "Takotsubo" cardiomyopathy, in an amyotrophic lateral sclerosis patient on long-term respiratory support]. 1631 69

Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease. ALS is a progressive neurodegenerative disorder, involving motor neurons in the cerebral cortex, brainstem and spinal cord, presenting with a combination of upper and lower motor neuron signs. Etiology remains undetermined, although a multifactorial origin is widely accepted including genetic factors, auto-immunity, oxidative stress, glutamate excitotoxicity and abnormal neurofilament aggregation. The absence of specific diagnostic testing, and variable clinical presentations make the diagnosis of ALS challenging, relying upon correlation of clinical, electrophysiological and neuroimaging data. The disease is relentlessly progressive, with dysarthria, dysphagia, tetraparesis, and respiratory insufficiency due to ongoing respiratory muscle paresis. There is no specific treatment for ALS. Riluzole, a glutamate antagonist, is the only FDA approved drug for ALS, but has only a modest effect on survival. The multiplicity and progressiveness of the disabilities in ALS, highlights the need for a coordinated multidisciplinary rehabilitation program managing symptoms, respiratory care, dysphagia and nutrition, dysarthria and communication, physical and occupational therapy. The main goals are to prolong independence, prevent complications and improve quality of life.
 ...
PMID:Diagnostic investigation and multidisciplinary management in motor neuron disease. 1636 28

Recognizing an ALS-mimic can be challenging. Here, we describe a patient with a slowly progressive dysarthria and dysphagia, with fasciculations of the tongue and general hyperreflexia, fulfilling the diagnostic criteria of 'clinical probable ALS'. Because of a non-conclusive EMG, a muscle biopsy was performed that surprisingly showed widespread nemaline rods. The clinical features and the histological findings were compatible with a sporadic late onset nemaline myopathy. Three years after initial presentation the patient died and post-mortem examination not only showed nemaline bodies in every muscle examined, but also revealed an unsuspected final diagnosis: sarcoid brainstem encephalitis. Nemaline rods can be found in various disorders, and neurosarcoidosis should be added to this list.
 ...
PMID:A case of neuromuscular mimicry. 1691 50


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>