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)

Respiratory dysfunction is a critical problem in amyotrophic lateral sclerosis (ALS). We report a patient with ALS who had respiratory apraxia. A 74-year-old female presented with progressive dysarthria and dysphagia. Clinical signs and evidence of widespread denervation on electromyography (EMG) confirmed the diagnosis of ALS. She had no signs of dementia. Irregular volitional inspiratory movements on verbal command were noticed, in contrast with rhythmic automatic inspiration - respiratory apraxia. Limb and buco-facial movements showed no signs of apraxia. EMG of respiratory muscles was normal, apart from irregular phasic activity of the diaphragm on volitional inspiration; this was confirmed by recording respiratory movements with a percutaneous sensor transducer. Sleep study was normal. She deteriorated rapidly; nonetheless, no clinical sign of dementia or other apraxic findings were observed. ALS, particularly when of bulbar onset, can cause respiratory apraxia and EMG of the respiratory muscles can be useful to detect this condition.
 ...
PMID:Respiratory apraxia in amyotrophic lateral sclerosis. 1753 81

Although diversity of symptoms and urgency of needs pose many challenges, management of the degenerative dysarthrias is a crucial aspect of clinical practice. The purpose of this article is to review current research literature on selected degenerative dysarthrias including those associated with Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis. These dysarthrias are prevalent yet represent distinct patterns of underlying neuropathology, symptoms, age of onset, and rate of progression. Literature searches including the period 1997-2006 yielded 148 different studies reporting data on communication issues related to dysarthria. By far the largest category of studies was that which provided a basic description of speech production including the neurophysiologic, acoustic, or perceptual properties of dysarthria. Other categories included management (assessment and treatment) and the psychosocial consequences of dysarthria. While the topic of management of degenerative dysarthria is a focused one, it provides a window into many issues critical to the field of communication disorders including fundamental properties of speech production, development of evidence-based treatment techniques, the staging of these techniques into an effective management sequence, and the psychosocial consequences of communication disorders along with techniques to maintain communicative participation in the face of degenerative conditions.
 ...
PMID:The degenerative dysarthrias: a window into critical clinical and research issues. 1755 54

Amyotrophic lateral sclerosis (known in the UK as motor neuron disease) is a devastating illness with uncertain pathogenesis. In this Seminar, we review its natural history, clinical features, diagnostic criteria, variant and mimic syndromes, genetic forms, and epidemiology. Several hypotheses about causes of the disorder are discussed, such as excitotoxicity and oxidant stress, and we review past and present putative disease-modifying treatments. Disease-management strategies, from telling the patient about their illness to end-of-life decisions and palliative care, are presented. We review options for control of the main symptoms of amyotrophic lateral sclerosis--including dysphagia, dysarthria, respiratory distress, pain, and psychological disorders--and care in the terminal phase. The need for good psychosocial and spiritual care of patients and families is emphasised. We conclude with an overview of some current major issues and future prospects, ranging from the search for disease markers to challenging developments such as stem-cell and gene therapy.
 ...
PMID:Amyotrophic lateral sclerosis. 1757 95

We present a 72-year-old woman with progressive dysphagia, dysarthria and tongue palsy who was initially diagnosed with bulbar-onset amyotrophic lateral sclerosis (ALS). However, the absence of atrophy or fasciculations in the tongue, as in other voluntary muscles, and the lack of reproducible neurophysiological evidence of denervation, prompted a revision of the diagnostic work-up, which eventually led to the discovery of a carcinoma of the tongue. This case report describes a relatively rare type of oropharyngeal carcinoma that, in its early stage, resembled a bulbar-onset ALS. This differential diagnosis is unusual, and it was fostered by the persistent lack of atrophy of the tongue and the absence of spreading of signs and symptoms of motor neuron degeneration.
 ...
PMID:Carcinoma of the tongue and bulbar-onset amyotrophic lateral sclerosis: unusual differential diagnosis. 1848 13

Like Alzheimer's and Parkinson's diseases, amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease in which a very defined population of neurons selectively degenerates. Muscular atrophy and central paresis develop in ALS patients relatively quickly--usually within months to a few years. Bulbar symptoms such as swallowing disorders and dysarthria are frequently observed in the beginning. The disease progresses steadily and without remission. The average length of survival after diagnosis is two to three years. The diagnosis is made on the basis of a characteristic group of symptoms and confirmed or substantiated through additional clinical neurological tests. Currently, the cause of the disease cannot be treated. Treatment concentrates primarily on symptomatic measures and providing supportive devices.
 ...
PMID:[Diagnosis and treatment of amyotrophic lateral sclerosis]. 1772 75

The concurrence of amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) is extremely rare. We report on a 55-year-old female patient presenting with a progressive gait disorder for 6 months and a speech disorder for 3 months. Neurological examination revealed a spastic paraparesis and mild dysarthria and dysphagia. Technical and laboratory investigations met the diagnostic criteria for MS: magnetic resonance imaging showed multiple periventricular white matter and cervical lesions; cerebrospinal fluid showed a typical autoimmune response. Within the following 3 months generalized fasciculations, atrophy of the small hand muscles and bulbar signs were noticed. Nerve conduction studies revealed acute and chronic signs of denervation in all limbs without nerve conduction block. Hence clinical and paraclinical examination met the El Escorial criteria for ALS. Although myelitic lesions in the anterior horn cells may lead to peripheral segmental denervation, the generalized denervation suggested the unusual coincident combination of ALS and MS in this patient. In clinical praxis motoneuron diseases should also be considered in patients with pronounced peripheral denervations once "definite" MS has been diagnosed.
 ...
PMID:[Simultaneous presentation of amyotrophic lateral sclerosis and multiple sclerosis]. 1787 78

We report a case of a 68-year-old right-handed man with sporadic amyotrophic lateral sclerosis (ALS) and argyrophilic grain disease (AGD) having a 22-month duration. His initial symptoms were dysarthria and swallowing difficulty at the age of 67. Subsequently bulbar palsy and pyramidal signs developed. His cognitive functions including face recognition, personality, and behavior were not changed compared with that of before the disease onset. However, magnetic resonance imaging disclosed severe right side-predominant temporal atrophy. The neurological diagnosis was bulbar type ALS. Pathological examination disclosed histological evidence of ALS, including loss of Betz cells and lower motor neurons, corticospinal tract degeneration, and Bunina bodies. In addition, severe neuronal loss in the bilateral temporal cortex with an anterior gradient was found. Ubiquitin-positive inclusions were encountered in the spinal anterior horn cells and hippocampal dentate gyrus, while few ubiquitin-positive inclusions were noted in the affected temporal cortex. The amygdala, especially the basolateral nuclear group, was severely affected by neuronal loss with tissue rarefaction. Moderate neuronal loss was encountered in the parahippocampal gyrus, and to a lesser degree, in the ambient gyrus. Unexpectedly, many argyrophilic grains, coiled bodies, tau-positive bush-like astrocytes, pretangles, and ballooned neurons were found in the limbic system and temporal cortex. In the hippocampus, selective tau accumulation with minor neurofibrillary changes was observed in CA2 neurons. The present case suggests that (i) ALS and AGD do rarely coexist, and (ii) when ALS patients have severe temporal atrophy, not only ALS with dementia but also concurrent AGD should be considered in the differential diagnosis.
 ...
PMID:Coexistence of amyotrophic lateral sclerosis and argyrophilic grain disease: a non-demented autopsy case showing circumscribed temporal atrophy and involvement of the amygdala. 1802 74

When an individual has a severe verbal communication impairment, Augmentative and Alternative Communication (AAC) can meet the overall goals of palliative care. AAC can improve quality of life by optimizing function, assisting with decision making, and providing opportunities for personal growth. This article will define AAC and its importance in the medical management of a person with ALS. The process of obtaining an electronic AAC device, issues affecting use, and communication challenges and obstacles unique to ALS will be described including dysarthria and the diagnostic testing for speech and rationale for AAC. Communication solutions, which may include no-technology, low-technology and high-technology options will be discussed, as well as the importance of psychosocial issues and the factors that may influence the use of these systems.
 ...
PMID:The role of augmentative communication devices in the medical management of ALS. 1819 30

A variety of immunological abnormalities have been reported in some patients with amyotrophic lateral sclerosis (ALS). It has been postulated that a disturbance of immunoregulation may play a role in the degeneration of motor neurons in ALS. We describe a 62-year-old man with a 9-month history of slowly progressive muscular weakness and atrophy of the upper and lower extremities and dysarthria. Neurological examinations revealed weakness and atrophy with fasciculation in the skeletal muscles including the face and tongue. In the limbs, distal muscles were affected predominantly. Electromyography showed chronic neurogenic changes with denervation potentials. Serum antibody testing demonstrated an increased titer of anti-N-acetylgalactosaminyl GD1a (GalNAc-GD1a) antibodies (IgGx160; normal, less than x40). The patient was treated with intravenous immunoglobulin (IVIg) therapy which was repeated two times at an interval of 2 months. However, the response to IVIg was negligible. To the authors' knowledge, this is the first report on ALS, in which the patient had anti-GalNAc-GD1a IgG antibody.
 ...
PMID:Amyotrophic lateral sclerosis associated with IgG anti-GalNAc-GD1a antibodies. 1845 Mar 70

Amyotrophic lateral sclerosis (ALS) is the most common neurodegenerative disease of the motor system. Bulbar symptoms such as dysphagia and dysarthria are frequent features of ALS and can result in reductions in life expectancy and quality of life. These dysfunctions are assessed by clinical examination and by use of instrumented methods such as fiberendoscopic evaluation of swallowing and videofluoroscopy. Laryngospasm, another well-known complication of ALS, commonly comes to light during intubation and extubation procedures in patients undergoing surgery. Laryngeal and pharyngeal complications are treated by use of an array of measures, including body positioning, compensatory techniques, voice and breathing exercises, communication devices, dietary modifications, various safety strategies, and neuropsychological assistance. Meticulous monitoring of clinical symptoms and close cooperation within a multidisciplinary team (physicians, speech and language therapists, occupational therapists, dietitians, caregivers, the patients and their relatives) are vital.
 ...
PMID:Diagnosis and treatment of bulbar symptoms in amyotrophic lateral sclerosis. 1856 Mar 90


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