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)

Twelve patients with Shy-Drager syndrome (SDS) presenting symptoms of multiple nervous system atrophy and orthostatic hypotension were examined for laryngeal movement disorders and vocal impairment in speech. Vocal fold abductor paresis was found in 11 patients and was bilateral in 10. Speech task performance was recorded in SDS patients, Parkinson patients and age- and sex-matched controls. Trained listeners with inter-rated reliability greater than or equal to .85 judged each recording on 20 attributes while blind to speaker identity. SDS patients had a breathy and strained voice quality, reduced loudness, monopitch and monoloudness, imprecise consonants, variations in rate and rate-slowing, suggesting a flaccid type of dysarthria. In comparison with Parkinson patients, SDS patients had excess vocal hoarseness, intermittent glottal fry and a slow and deliberate speaking rate. Orthostatic hypotension, laryngeal stridor, hoarseness, intermittent glottal fry and slow speech rate were found to be discriminating symptoms of SDS.
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PMID:Vocal fold paresis in Shy-Drager syndrome. 682 89

Striatonigral degeneration (SND) is difficult to diagnose in vivo. The purpose of this study was to detect the best indicators for an early and reliable diagnosis of the disease. Eighteen patients clinically diagnosed as having SND were selected with rigorous inclusion criteria and compared to 18 patients with Parkinson's disease (PD) matched for age and disease duration. Apart from dysautonomia, the principal discriminant clinical features that distinguished SND from PD were the early appearance of the following symptoms and signs: (a) severe and atypical progressive parkinsonism characterized by bilateral bradykinesia and rigidity, slowness of gait, postural instability, and falls, and poor or absent response to adequate levodopa treatment; (b) increased tendon reflexes associated or not with frank pyramidal signs, severe dysarthria, and less consistently, dysphagia, stridor, antecollis, and stimulus-sensitive myoclonus, which, when present, are highly suggestive of the disease.
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PMID:"Pure" striatonigral degeneration and Parkinson's disease: a comparative clinical study. 765 45

We report the clinicopathological features of 203 cases of pathologically proven multiple system atrophy (MSA) from 108 publications up to February 1995. The majority of patients showed symptoms in their early fifties, and men were more commonly affected than women (ratio of 1.3:1). Most patients suffered from some degree of autonomic failure (74%). Parkinsonism was the most common motor disorder (87%), followed by cerebellar ataxia (54%) and pyramidal signs (49%). The response to levodopa was poor in most patients, but there was a subgroup with a good response, who also often developed axial levodopa-induced dyskinesias. Other characteristic features included severe dysarthria, stridor, and, in a few patients, contractures and dystonia (antecollis). Mild or moderate intellectual impairment occurred in some cases, but severe dementing illness was most unusual. The main pathological change comprised cell loss and gliosis in the putamen, caudate nucleus, external pallidum, substantia nigra, locus ceruleus, inferior olives, pontine nuclei, cerebellar Purkinje cells, and intermediolateral cell columns of the spinal cord. However, other neuronal populations were also involved to varying degrees, such as the thalamus, vestibular nucleus, dorsal vagal nucleus, corticospinal tracts, and anterior horn cells. Characteristic glial and/or neuronal cytoplasmic inclusions were identified in all cases in which they were sought, irrespective of clinical presentation. Akinesia correlated with the degree of nigral and putaminal cell loss, whereas rigidity was related only to the later. Tremor was unrelated to cell loss at any site. Ataxia correlated with the degree of olivopontocerebellar atrophy. Pyramidal signs were associated with pyramidal tract pallor. Our analysis also confirmed an association of postural hypotension with intermediolateral cell column degeneration.
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PMID:Multiple system atrophy: a review of 203 pathologically proven cases. 908 71

We report a 65-year-old male with progressive supranuclear palsy (PSP) who developed bilateral vocal cord abductor paralysis (VCAP). The patient was admitted to our hospital because of impaired gait. He was well until two years earlier, when he began to walk unsteadily. During the next two years, dysarthria and dysphagia developed and his gait worsened gradually. On admission, neurological examination showed impaired vertical and incomplete lateral gaze. His speech was slow and monotonous. Contractures were found in the neck muscles and elbows. The deep tendon reflexes were increased in the upper and decreased in the lower extremities. Babinski sign was negative. Snout and forced grasping reflexes were elicited. He showed marked bradykinesia. Magnetic resonance imaging revealed a midbrain tectum atrophy. Single photon emission tomography showed severe hypoper-fusion in the frontal cortex. No improvement was provided by the administration of levodopa-carbidopa, bromocriptine, droxydopa and amitriptyline. One month after admission, inspiratory stridor developed at night. The laryngofiberscopic examination demonstrated VCAP. An emergency tracheostomy relieved his respiratory distress. Although VCAP rarely occurs in neurodegenerative disorders other than multiple system atrophy, attention to VCAP should be required in PSP patients.
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PMID:[A case of progressive supranuclear palsy associated with bilateral vocal cord abductor paralysis]. 936 83

This report concerns a 41-year-old female case of spinal muscular atrophy (SMA) associated with vocal cord paralysis. Her parents were not consanguineous. Her maternal grandmother and younger brother were suspected of having SMA. At age 37, she first experienced gait disturbance and began to have slowly progressive dysarthria and weakness of the extremities. Neurological examination revealed that she had inspiratory stridor, dysarthria and proximal muscular weakness of the extremities. Achilles tendon reflexes were absent, while there were no pathological reflexes or sensory disturbances. She showed a waddling gait and Gowers' sign. The laboratory data indicated mild elevation of serum CK. The nerve conduction study was normal, while the electromyographic study and muscle biopsy revealed neurogenic changes. We diagnosed the case as adult onset SMA of the autosomal dominant type. Laryngoscopy revealed that the patient had vocal cord paralysis, which was predominant in abductor muscles and of the posterior paralysis type according to the categories established by Isozaki. Genetic analysis showed no mutations in the genes of the neuronal apoptosis inhibitory protein and of the survival motor neuron.
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PMID:[Autosomal dominant adult-onset spinal muscular atrophy with vocal cord paralysis: a case report]. 1118 10

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked dysmyelination disorder of the central nervous system (CNS). PMD is caused by mutations in the PLP1 gene located at Xq22 and encoding the major myelin component in CNS, proteolipid protein 1 (PLP1). The disease is clinically heterogeneous. Phenotypes are generally categorized into classic and connatal forms. Connatal PMD has more rapid progression with early death, while patients with classic PMD generally survive to adulthood. Both forms of the disease are caused by point mutations as well as rearrangements - multiplication (mainly duplication) and deletion of the PLP1 gene. We present a case of a male patient affected by the classic form of PMD with benign course, except severe dysarthria with the characteristic laryngeal stridor, which is more typical for connatal form of the disease. The diagnosis has been confirmed at the molecular level. The patient has duplication of all 7 exons of the PLP1 gene. This duplication was inherited from the patient's mother, who is an unaffected carrier of the mutation. The patient's family pedigree analysis revealed the interfamilial variability of the phenotype among affected male relatives.
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PMID:PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report. 2108 96

Airway compromise following a cervical spine injury is an unusual cause of respiratory distress. We describe a patient who developed a retropharyngeal haematoma that caused dysphagia, dysarthria and acute airway compromise seven days following a fall, with no other signs of cervical spine injury. The patient was found to have a type 2 fracture through the junction of the odontoid peg and body of C2 with an associated prevertebral haematoma and soft tissue oedema. Later, the patient developed stridor and required an emergency orotracheal intubation and admission to the intensive care unit. As presented in this case report, cervical fracture can result in mechanical airway compromise with an associated retropharyngeal haematoma and prevertebral soft tissue oedema. In elderly patients with a minor history of falls one should always think of possible fractures and appropriate investigations should be carried out. Retropharyngeal haematomas secondary to cervical spine fractures require a prompt multidisciplinary approach and appropriate management of both the airway and cervical spine. Joint care from the orthopaedic, anaesthetic, and ear, nose and throat teams is necessary.
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PMID:Dysphagia and airway compromise as a result of retropharyngeal haematoma following undiagnosed odontoid peg fracture: a case report. 2192 5

Clinical diagnosis of multiple system atrophy is challenging and many patients with Lewy body disease (i.e. Parkinson's disease or dementia with Lewy bodies) or progressive supranuclear palsy are misdiagnosed as having multiple system atrophy in life. The clinical records of 203 patients with a clinical diagnosis of multiple system atrophy were reviewed to identify diagnostic pitfalls. We also examined 12 features supporting a diagnosis of multiple system atrophy (red flag features: orofacial dystonia, disproportionate antecollis, camptocormia and/or Pisa syndrome, contractures of hands or feet, inspiratory sighs, severe dysphonia, severe dysarthria, snoring, cold hands and feet, pathological laughter and crying, jerky myoclonic postural/action tremor and polyminimyoclonus) and seven disability milestones (frequent falls, use of urinary catheters, wheelchair dependent, unintelligible speech, cognitive impairment, severe dysphagia, residential care). Of 203 cases, 160 (78.8%) were correctly diagnosed in life and had pathologically confirmed multiple system atrophy. The remaining 21.2% (43/203) had alternative pathological diagnoses including Lewy body disease (12.8%; n = 26), progressive supranuclear palsy (6.4%; n = 13), cerebrovascular diseases (1%; n = 2), amyotrophic lateral sclerosis (0.5%; n = 1) and cerebellar degeneration (0.5%; n = 1). More patients with multiple system atrophy developed ataxia, stridor, dysphagia and falls than patients with Lewy body disease; resting tremor, pill-rolling tremor and hallucinations were more frequent in Lewy body disease. Although patients with multiple system atrophy and progressive supranuclear palsy shared several symptoms and signs, ataxia and stridor were more common in multiple system atrophy. Multiple logistic regression analysis revealed increased likelihood of multiple system atrophy versus Lewy body disease and progressive supranuclear palsy if a patient developed orthostatic hypotension or urinary incontinence with the requirement for urinary catheters [multiple system atrophy versus Lewy body disease: odds ratio (OR): 2.0, 95% confidence interval (CI): 1.1-3.7, P = 0.021; multiple system atrophy versus progressive supranuclear palsy: OR: 11.2, 95% CI: 3.2-39.2, P < 0.01]. Furthermore, autonomic dysfunction within the first 3 years from onset can differentiate multiple system atrophy from progressive supranuclear palsy (multiple system atrophy versus progressive supranuclear palsy: OR: 3.4, 95% CI: 1.2-9.7, P = 0.023). Multiple system atrophy patients with predominant parkinsonian signs had a higher number of red flag features than patients with Lewy body disease (OR: 8.8, 95% CI: 3.2-24.2, P < 0.01) and progressive supranuclear palsy (OR: 4.8, 95% CI: 1.7-13.6, P < 0.01). The number of red flag features in multiple system atrophy with predominant cerebellar signs was also higher than in Lewy body disease (OR: 7.0, 95% CI: 2.5-19.5, P < 0.01) and progressive supranuclear palsy (OR: 3.1, 95% CI: 1.1-8.9, P = 0.032). Patients with multiple system atrophy had shorter latency to reach use of urinary catheter and longer latency to residential care than progressive supranuclear palsy patients, whereas patients with Lewy body disease took longer to reach multiple milestones than patients with multiple system atrophy. The present study has highlighted features which should improve the ante-mortem diagnostic accuracy of multiple system atrophy.
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PMID:Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study. 3149 60