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)

Clinical, neurological, endoscopic, psychological findings, questionnaire data on vegetative sphere, diaphragm x-ray, articulation test and Viene test system evidence obtained on 25 patients with phonic spasm confirm organic neurological nature of spastic dysphonia as focal muscular dystonia. This condition can be accompanied with tremor, rotatory, winking and writers' spasms, oromandibular dystonia. As indicated by positive treatment outcomes, combined treatment of phonic spasm with GABA-ergic drugs of clonazepam (antelepsin) and baclofen, orthophonic voice correction, physiotherapy is pathogenetically justified.
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PMID:[Clinical features of spastic dysphonia]. 855 15

A 67-year-old man experienced the abrupt onset of intermittent spasms of tightening of his throat muscles and elevation of his tongue to the roof of his mouth. These were precipitated by initiating movements, either of his mouth (eating, drinking, speaking, yawning) or of his whole body (arising from bed or a chair, lifting heavy weights). Episodes occurred six to 20 times per day, lasted 10-30 s, then resolved spontaneously. Two years later, results of his general neurological examination, including speech, were normal. Several spasms were provoked by arising from a seated or supine position or by drinking. Objectively, there was a strained dysphonia accompanied by palpable hardening of the supralaryngeal muscles. Each episode resolved within 15 s. Magnetic resonance imaging (MRI) showed evidence of a remote hemorrhage in the medulla. No abnormal blood vessels were seen. Phenytoin 300 mg/day abolished the spasms within days. Decreasing the dose to 200 mg/day months later led to a partial return of symptoms. Relief has persisted for 3 years. This patient has paroxysmal kinesigenic dystonia (PKD) of structures (pharynx, larynx, tongue) innervated by lower cranial motor nerves and a medullary lesion on MRI. PKD has been associated with focal lesions at all levels of the central nervous system (CNS), although never before in the medulla. PKD seems to be a nonspecific phenomenon of the CNS in reaction to injury.
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PMID:Paroxysmal kinesigenic dystonia associated with a medullary lesion. 938 78

Botulinum toxin is a presynaptic neuromuscular blocking agent that, when injected intramuscularly in minute quantities, can produce selective muscle weakness. This property is employed therapeutically to provide symptomatic relief in conditions related to excessive muscle activities in strabismus, blepharospasm, hemifacial spasm, cervical dystonia, spasmodic dysphonia (adductor type), and jaw closing dystonia. It is investigational for a long list of medical conditions. It is a marketed drug in a number of countries in the world, but its use has only been approved by different regulatory agencies for use in a limited number of conditions. The long-term effects, appropriate dose for children, and in pregnancy, and maximum dose without causing toxicity remain unclear.
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PMID:Botulinum toxin as a therapeutic agent. 898 68

Adult-onset focal dystonias (AFD) are common disorders that are often misdiagnosed and incorrectly treated. Their presentation is readily recognized, and botulinum toxin has become the agent of choice for treating these disorders. Most of the focal dystonias include cervical dystonia, blepharospasm, oromandibular dystonia, spasmodic dysphonia, and limb dystonia, specifically writer's cramp. Their onset is either idiopathic, familial, or post-traumatic, and the pathophysiology of the focal dystonias is not currently known. Local injections of botulinum toxin into the affected area result in chemical denervation of the muscle, resulting in a weakness of the muscles that are involved in the sustained contractions. This weakness alleviates the painful contraction of the dystonia. In this paper we present a case study of the most common type of focal dystonia, cervical dystonia. The etiology in this case was post-traumatic, and significant improvement resulted after treatment with botulinum toxin type A.
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PMID:Adult-onset focal dystonias: presentation and treatment options. 899 56

We describe clinical experiences in the management of three patients with laryngopharyngeal dystonia causing severe breathing problems. In contrast to spasmodic dysphonia, which presents with action-induced involuntary spasm of laryngeal muscles during speaking, all three patients showed laryngopharyngeal spasms primarily during respiration. In analogy to spasmodic dysphonia we propose the term spasmodic laryngeal dyspnea for this rare condition. Localized unilateral botulinum toxin injected into the thyroarytenoid muscle and/or ventricular folds reduced the quantity and quality of spasms and led to a pronounced improvement of breathing problems.
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PMID:Spasmodic laryngeal dyspnea: a rare manifestation of laryngeal dystonia. 919 49

Spasmodic dysphonia is a focal laryngeal dystonia characterized by inappropriate contractions of the intrinsic laryngeal musculature. The prevalence of associated neurological findings has led to detailed investigation of the central nervous system. Previous research revealed latency abnormalities in patients' auditory brainstem responses. The present study further investigated central auditory findings in patients with spasmodic dysphonia, including brainstem and cortical function. Fourteen normal-hearing patients with spasmodic dysphonia were tested using the auditory brainstem response (ABR) and SCAN-A test of central auditory processing. The ABR estimated brainstem transmission time and evaluated auditory pathway integrity at a high stimulus rate. SCAN-A assessed the auditory cerebral cortex. Implications of these findings are discussed. We found no ABR abnormalities in subjects with spasmodic dysphonia. Positive SCAN-A findings were negligible. The ABR findings contradict previous reports.
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PMID:Central auditory evaluation of patients with spasmodic dysphonia. 934 14

Parkinsonism as well as dystonic signs are rarely seen in central pontine myelinolysis and extrapontine myelinolysis. A 51 year old woman developed central pontine myelinolysis and extrapontine myelinolysis with parkinsonism after severe vomiting which followed alcohol and drug intake, even though marked hyponatraemia had been corrected gradually over six days. Parkinsonism resolved four months after onset, but she then exhibited persistent retrocollis, spasmodic dysphonia, and focal dystonia of her left hand. Although the medical literature documents three similar patients, this patient is different as dystonic symptoms only developed four months after parkinsonian signs had resolved.
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PMID:Parkinsonism and dystonia in central pontine and extrapontine myelinolysis. 966 73

Psychogenic dysphonia traditionally has been considered a case of dystonia in which the functional disturbance is attributed to a disturbance in the synchronization of the laryngeal abductor and adductor muscles. Five patients with psychogenic dysphonia were studied by telelaryngoscopy and conventional laryngeal electromyography. This excluded the neuromuscular origin of the damage and confirmed the diagnosis. A complete glottic gap was present during phonation at the beginning of the exploration, but at the end of the examination, direct laryngoscopy revealed complete glottic closure with normal phonation. Laryngeal electromyography showed no abnormalities suggestive of a neuromuscular origin. In every case, the effort patterns of motor unit potentials were normal and denervation activity was absent in resting conditions.
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PMID:[Electromyographic study of psychogenic dysphonias]. 971 31

Small quantities of botulinum toxin (BTX) are useful in the treatment of certain movement disorders, such as laryngeal spasmodic dysphonia, blepharospasm, and cervical dystonia. However, the corrective paralytic effects of BTX are only temporary, in part because of the formation of remodeled neuromuscular junctions. Here, we questioned whether various factors within and near the neuromuscular junction could contribute to the remodeling seen after BTX treatment. BTX was injected subcutaneously in the region of the levator auris longus muscle. At 1-week intervals, levator auris longus muscles were removed and examined histochemically. As previously described, BTX treatment results in a progressive elongation of end plates. The neural cell adhesion molecule was not associated with the elongated end plates but was associated with the BTX-induced nerve sprouts after long intervals (3 to 4 weeks). Similarly, after BTX, laminin-1 (composed of alpha 1, beta 1, and gamma 1 chains) reactivity was associated with the nerve sprouts, but not with the end plates. Laminin beta 2 reactivity at the end plate dispersed somewhat within 1 week but remained diffusely associated with the elongating end plates for up to 5 weeks. Together these results suggest that neural cell adhesion molecule and laminins may participate in the sprouting observed after BTX treatment and that alterations in laminin beta 2 expression may participate in initial loss of contacts.
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PMID:Association of adhesive macromolecules with terminal sprouts at the neuromuscular junction after botulinum treatment. 994 61

This meta-analysis focuses on the treatment effects of the use of botulinum toxin in laryngeal dystonia. The vocal symptoms are characterized by spasms of the laryngeal muscles thus the use of the term spasmodic dysphonia (SD). The objective of the intervention, i.e. botulinum toxin treatment, is to reduce or eliminate the vocal spasms and thus improve the acoustic regularity of the voice. The purpose of the present study was to assess the efficacy of botulinum toxin in the treatment of SD by engaging in a 'best synthesis' systematic summary of existing research. The average treated SD patient in the 22 studies subjected to meta-analysis obtained 97% improvement as a result of treatment with botulinum toxin.
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PMID:Meta-analysis of botulinum toxin treatment of spasmodic dysphonia: a review of 22 studies. 1034 14


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