Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fibreoptic laryngoscopy in 6 patients with laryngeal stridor showed immobile vocal cords in a paramedian position but no other local cause. Thus a diagnosis of Gerhardt's syndrome, usually ascribed to paralysis of vocal-cord abductor muscles, was made in 3 patients who had no other signs or symptoms of dystonia, and in 3 patients who had multifocal dystonia. Electromyography (EMG) showed evidence of overactivity of vocal-cord adductors, with no evidence of denervation in the abductor muscles. Botulinum toxin injection of the overactive thyroarytenoid muscles abolished stridor. These clinical and EMG findings indicate that Gerhardt's syndrome is not caused by paralysis of vocal-cord abductors, but represents a focal laryngeal dystonia which may be treatable by botulinum toxin injections of vocal-cord adductor muscles rather than by arytenoidopexy or tracheostomy.
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PMID:Stridor and focal laryngeal dystonia. 134 45

Ten consecutive patients with a progressive pan-autonomic failure of the Shy-Drager syndrome were investigated. Movement disorders of the vocal cords were examined with a fiber-optic laryngoscope as well as a video-recorder. Moderate to severe vocal cord paralysis was present in five of ten patients. The vocal cords were almost immobile during inspiration, while there was no limitation of the adduction during phonation. In two cases, grade of vocal cord paralysis was asymmetric. One patient developed peculiar twisting-like dystonic movements of the vocal cord. Polygraphic studies revealed that SaO2 was lowered in spite of tachypnea during sleep. In two cases, the expiratory flow volume curve in effort-dependent portion near TLC showed a plateau and the inspiratory part of the curve also showed a plateau indicating constant flow. These functional disorders suggest an upper airway obstruction probably due to the vocal cord dysfunction. There was no vocal cord paralysis in two patients who had neither snore nor stridor. Development of a severe vocal cord dysfunction usually manifested itself clinically as stridor, snore or respiratory failure requiring tracheostomy. There was little information on the pathology of the vagal nerves and nuclei supplying motor control to the laryngeal muscles. The mechanism of the selective involvement of abductor muscle (posterior muscle) of the vocal cord (Gerhardt syndrome) remains unsolved. Vocal cord paralysis should be looked for since it can result in respiratory failure leading to death.
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PMID:[Bilateral abductor vocal cord paralysis (Gerhardt syndrome) in the Shy-Drager syndrome]. 260 29

A 64-year-old woman with blepharospasm, sustained clenching of the jaw, antecollis, and a strained, high-pitched phonation continued chronic trihexyphenidyl therapy despite the lack of any obvious benefit. Abrupt, accidental withdrawal of trihexyphenidyl triggered severe exacerbation of the cranial dystonia associated with inspiratory stridor and acute respiratory difficulties, prompting emergency admission. On indirect laryngoscopy, hyperadduction of the vocal folds was not the cause of the upper airway obstruction. A more likely cause of the inspiratory obstruction appeared to be forward bending of the neck combined with mouth-clenching spasms. Reinstitution of intravenous anticholinergic medication provided relatively prompt relief. We caution against abrupt interruption of anticholinergics in patients with severe segmental cranial dystonia, even in those cases in which no benefit is apparent to observers.
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PMID:Life-threatening cranial dystonia following trihexyphenidyl withdrawal. 281 95

We report a patient with Lubag (X-linked dystonia-parkinsonism) who presented with severe respiratory stridor from adductor laryngeal breathing dystonia. Emergency tracheostomy was necessary, and subsequent laryngeal injection with botulinum toxin led to worsening aspiration. Botulinum toxin injection for severe lingual dystonia was successful.
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PMID:Adductor laryngeal breathing dystonia in a patient with lubag (X-linked dystonia-Parkinsonism syndrome). 804 72

Adductor laryngeal breathing dystonia (ALBD) is a rare disorder in which patients have persistent inspiratory stridor, usually normal voice, and cough. Physical exam is characterized by paradoxical movement of the vocal cords on inspiration. These patients have involuntary action-induced spasms of the adductor laryngeal muscles on inspiration. There has been no uniformly satisfactory treatment for the disease. Speech therapy, psychotherapy, and pharmacotherapy have all had limited success. We report the successful use of botulinum toxin type A in seven patients with adductor laryngeal breathing dystonia. All patients received bilateral thyroarytenoid injections. All patients had toxin effect within 72 hours, reaching maximal effect within 2 weeks with sustained improvement for an average of 13.8 weeks. Adverse effects included breathy voice and mild choking on liquids. Both resolved, on average, within 2 weeks. This retrospective study supports the safe and effective use of botulinum toxin type A in the treatment of adductor laryngeal breathing dystonia.
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PMID:Treatment of adductor laryngeal breathing dystonia with botulinum toxin type A. 829 54

Episodic paroxysmal laryngospasm (EPL) is a sign of laryngeal dysfunction, often without a specific organic etiology, which can masquerade as asthma, vocal fold paralysis, or a functional voice disorder. The intermittent respiratory distress of EPL may precipitate an apparent upper airway obstructive emergency, resulting in unnecessary endotracheal intubation, cardiopulmonary resuscitation, or tracheostomy. During 27 months, seven women and three men, age 30-76 years, were assessed by a high diagnostic index of suspicion, an intensive history including psychosocial factors, physical examination of the airways, provocative asthma testing, and swallowing studies. Videolaryngoscopy, stroboscopy, and pulmonary flow-volume loop testing were definitive. The classic appearance was paradoxic inspiratory adduction of the anterior vocal folds with a posterior diamond-shaped glottic gap. During an attack of stridor or wheezing, attenuation of the inspiratory flow rate as depicted by the flow-volume loop suggested partial extrathoracic upper airway obstruction. Swallowing evaluation by videolaryngoscopy and videosophagography may uncover gastroesophageal reflux disease. Hallmarks of management include patient and family education by observation of laryngoscopic videos, a specific speech therapy program, psychotherapy, and medical treatment of associated disorders. Electromyography may become a valuable future adjunct. Unlike laryngeal dystonia, patients with EPL do not benefit from botulinum toxin type A.
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PMID:Episodic paroxysmal laryngospasm: voice and pulmonary function assessment and management. 865 82

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

Spasmodic dysphonia is a focal laryngeal dystonia. Laryngeal dystonia presents as: adductor spasmodic dysphonia with the characteristic strain-strangle voice; abductor spasmodic dysphonia with hypophonia and breathy breaks in connected speech; and adductor respiratory dystonia with paradoxical vocal fold motion and intermittent stridor. Current treatment with periodic laryngeal intramuscular injections of botulinum toxin A has allowed patients to function more normally. In this article, the authors' treatment paradigm and experience in treating over 900 patients with laryngeal dystonia are discussed.
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PMID:Botulinum toxin for the treatment of spasmodic dysphonia. 1091 66

A 1.5-month-old boy with Sandifer's syndrome is described. After an uneventful delivery, he presented torticollis, seizure-like dystonic neck movements usually associated with feeding, episodic vomiting, inspiratory stridor and hand tremor in the first month of life. Barium esophagogram demonstrated gastroesophageal reflux, for which medical therapy was started. Children with torticollis and dystonic movements should be evaluated for Sandifer's syndrome. Early diagnosis and treatment of gastroesophageal reflux may prevent complications.
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PMID:A case of Sandifer's syndrome with hand tremor. 1176 69

Electromyography (EMG) was performed in 10 patients with multiple system atrophy, laryngeal or pharyngeal symptoms, or both. In patients with stridor, EMG during quiet breathing revealed persistent tonic activity in both abductor and adductor vocal cord muscles. In patients with dysphagia, the cricopharyngeal muscle showed persistent EMG activity throughout all phases of swallowing. Botulinum toxin injection into the adductor muscle determined subjective improvement and reduced tonic EMG activity. Therefore, the cause of stridor in multiple system atrophy is dystonia of the vocal cords.
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PMID:Not paralysis, but dystonia causes stridor in multiple system atrophy. 1186 50


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