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)

The clinical features of 12 patients with spasmodic dysphonia are described. In 11 patients, the voice was strained, harsh, tight, and tremulous, and was low in volume and pitch. Speech, which was sometimes barely intelligible, was interrupted by irregular stoppages and catches of the voice; it required considerable effort, and was accompanied by facial grimacing. The dysphonia was part of a more widespread neurological disorder (idiopathic torsion dystonia) in one case, while it coexisted with blepharospasm in another, and with postural tremor in two. There was a buccolingual hyskinesia in another of these 11 patients, but this may have been related to her previous drug regime. In the twelfth patient, who had a familial tremor, the voice was characterised by marked breathiness, with intermittent aphonia. The disorder is probably due to a focal dystonia of the laryngeal musculature, and this would be consistent with the type of neurological disorders that were associated with it in our cases. Symptomatic benefit follows the therapeutic division of one of the recurrent laryngeal nerves, in selected cases.
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PMID:Clinical aspects of spasmodic dysphonia. 65 Feb 44

In order to assess the clinical utility of trigemino-facial reflexes in lower facial muscles, we studied perioral reflexes to mechanical and electrical stimulation in 13 patients with spasmodic dysphonia and orofacial dyskinesia and in 7 healthy subjects. Mechanical stimulation of the upper lip of all patients and electrical stimulation of the infraorbital nerve of patients with orofacial dyskinesia elicited larger perioral reflexes than in controls. In the majority of patients, hyperexcitable perioral reflexes were accompanied by increased gain of the blink reflex. In 4 patients, however, trigemino-facial reflexes were enhanced selectively in either the perioral muscles or orbicularis oculi. Our findings suggest that the quantitative assessment of perioral reflexes may provide information about the excitability of brainstem interneurons in cranial dystonia that is complementary to blink reflex studies.
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PMID:Perioral reflexes in orofacial dyskinesia and spasmodic dysphonia. 151 10

Spasmodic dysphonia is a focal laryngeal dystonia, a rare form of dystonia. Videostroboscopy, acoustic analysis, computerized voice analysis and over all electrophysiological analysis allow for the study of the different muscles involved in this dysphonia. There are two types of spasmodic dysphonia: adductor spasmodic dysphonia and abductor spasmodic dysphonia. The most efficient therapy nowadays is the injection of botulinum toxin into the thyroarytenoid muscle under fiberoptic visualization. We report 6 patient's cases of spasmodic dysphonia that we have been treating for about 2 years by direct injection of botulinum toxin in the vocal cords.
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PMID:[Treatment of spasmodic dysphonia with botulinum toxin]. 178 24

To study the demographic and clinical correlates of essential tremor (ET), we analyzed a comprehensive database of 350 patients evaluated at the Movement Disorders Clinic at Baylor College of Medicine from 1982 to 1989. The age at onset of tremor showed bimodal distribution for both male and female patients, with peaks in 2nd and 6th decades. ET appeared most frequently in hands, followed by head, voice, tongue, leg, and trunk. Half of the patients (47%) had associated dystonia, including cervical dystonia, writer's cramp, spasmodic dysphonia, and cranial dystonia, and 20% of the patients had associated parkinsonism. At least one 1st-degree relative of 62.5% of ET patients reported tremor. Alcohol relieved tremor in 2/3 of ET patients. Sixty-eight percent of patients who had adequate follow-up improved with propranolol, and 72% with primidone. There was no significant difference in various clinical variables between the 219 patients with familial ET and 131 with sporadic ET. Patients with early-onset ET were more likely to have hand involvement and associated dystonia than patients with late-onset ET. Dystonia was more frequently associated with mild ET than with severe ET. Patients with low-frequency tremor were older and had more head but less hand involvement than patients with high-frequency tremor. The lack of relevant differences between ET subgroups suggests that, despite variable expression, ET represents a single disease entity.
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PMID:Essential tremor: clinical correlates in 350 patients. 162 Mar 68

Laryngeal dystonia is a syndrome characterized by action-induced, involuntary spasms of the laryngeal muscles. Most patients have involvement of the adductor laryngeal muscles producing uncontrolled spasms during phonation, and a "strain-strangle" speech pattern commonly termed "spastic dysphonia." Other patients have involvement of the abductor muscles producing "whispering dysphonia." Rare patients have paradoxical vocal cord motion during respiration with adductor spasms on inspiration. Over the past 5 years we have used botulinum toxin (BOTOX) to treat more than 200 patients with laryngeal dystonia. This group includes patients with adductor involvement (phonatory dystonia, recurrent laryngeal nerve section failure, respiratory dystonia) and those with abductor involvement (whispering dystonia). Patients received benefit within 24 to 72 hours, with sustained improvement for 2 to 9 months with an average of 4 months. Patients improved to an average of 90% of normal function. Clinically significant adverse effects included extended breathy dysphonia and mild choking on fluids. BOTOX has become our treatment of choice for dystonic conditions of the larynx.
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PMID:Laryngeal dystonia: a series with botulinum toxin therapy. 199 5

The National Institutes of Health Consensus Development Conference on Clinical Use of Botulinum Toxin brought together neurologists, ophthalmologists, otolaryngologists, speech pathologists, and other health care professionals as well as the public to address: the mechanisms of action of botulinum toxin, the indications and contraindications for botulinum toxin treatment, the general principles of technique of injection and handling for its safe and effective use, and the short-term and long-term side effects and complications of therapy. Following 2 days of presentations by experts and discussion by the audience, a consensus panel weighed the evidence and prepared their consensus statement. Among their findings, the panel recommended that (1) botulinum toxin therapy is safe and effective for treating strabismus, blepharospasm, hemifacial spasm, adductor spasmodic dysphonia, jaw-closing oromandibular dystonia, and cervical dystonia; (2) botulinum toxin is not curative in chronic neurological disorders; (3) the safety of botulinum toxin therapy during pregnancy, breast feeding, and chronic use during childhood is unknown; (4) the long-term effects of chronic treatment with botulinum toxin remain unknown; and (5) botulinum toxin should be administered by committed interdisciplinary teams of physicians and related health care professionals with appropriate instrumentation. The full text of the consensus panel's statement follows.
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PMID:Botulinum toxin. 209 81

Spasmodic dysphonia is a focal dystonia that causes a loss of the fine control of intrinsic laryngeal muscles and produces a strained staccato voice. Temporary relief from symptoms has been reported in patients treated with botulinum toxin percutaneously injected into the thyroarytenoid muscle. A newly developed method of treatment differs from reported methods by increasing the accuracy of botulinum toxin placement, reducing soft tissue trauma, and applying basic scientific information about the functional histology of intrinsic laryngeal musculature. Sixteen patients with primarily adductor spasmodic dysphonia were treated. Initial assessment included laryngeal examination by indirect laryngoscopy, videoendoscopy, and stroboscopy, neurology examination (including laryngeal EMG), and vocal function studies with acoustic analysis and aerodynamic studies. A device originally designed for collagen injection allowed the precise microdelivery of toxin to the thyroarytenoid muscle. Indirect laryngoscopy was used to direct the needle, in an attempt to cover a broad area of motor end plates. The minimally effective dose was titrated for each patient, to avoid paralysis and preserve laryngeal function. All patients showed improved voices after treatment. There were no major complications. The basic technique can be performed in the otolaryngologist's office and does not require electromyography equipment or expertise.
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PMID:Indirect laryngoscopic approach for injection of botulinum toxin in spasmodic dysphonia. 212 97

In the past five years, 477 patients with various focal dystonias and hemifacial spasm received 3,806 injections of botulinum A toxin for relief of involuntary spasms. A definite improvement with a global rating greater than or equal to 2 on a 0-4 scale, was obtained in all 13 patients with spasmodic dysphonia, 94% of 70 patients with blepharospasm, 92% of 13 patients with hemifacial spasm, 90% of 195 patients with cervical dystonia, 77% of 22 patients with hand dystonia, 73% of 45 patients with oromandibular dystonia, and in 90% of 21 patients with other focal dystonia who had adequate follow up. While the average duration of maximum improvement lasted about 11 weeks after an injection (range seven weeks in patients with hand dystonia to 15 weeks in patients with hemifacial spasm), some patients benefited for over a year. Only 16% of the 941 treatment visits with follow up were not successful. Except for transient focal weakness, there were very few complications or systemic effects attributed to the injections. This study supports the conclusion that botulinum toxin injections are a safe and effective therapy for patients with focal dystonia and hemifacial spasm.
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PMID:Botulinum toxin treatment of cranial-cervical dystonia, spasmodic dysphonia, other focal dystonias and hemifacial spasm. 221 39

We discuss the etiology of 100 spasmodic dysphonia patients. Seventy-one patients had underlying essential tremor, 25 had Meige's syndrome, 12 were hypothyroid, and 27 had either a functional disturbance or focal dystonia. Six patients had intermittent breathy dysphonia. A large corpus of spasmodic dysphonia patients have organic neurolaryngeal disease.
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PMID:Neurologic aspects of spasmodic dysphonia. 204 Oct 67

We examined 106 members of a family affected with dopa-responsive dystonia (DRD), a subset of idiopathic dystonia. Ten members had unequivocal dystonia; 8 of these had generalized dystonia and the other 2 had focal dystonias (writer's cramp and spastic dysphonia). Twenty members had lesser dystonic signs and symptoms suggestive of a diagnosis of dystonia. Five members, including 1 with dystonia, had prominent parkinsonism that became symptomatic in late adulthood. All members affected with dystonia or parkinsonism had increased muscle tone (rigidity), which may represent the minimal clinical expression of DRD. Gene penetrance in families with DRD may be greater than previously suspected.
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PMID:Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. 229 84


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