نتایج جستجو برای: laryngeal dystonia
تعداد نتایج: 22534 فیلتر نتایج به سال:
Background: Dystonia is a movement disorder characterized by involuntary muscle contractions that cause twisting movements and abnormal postures. Primary dystonia is the most common form and is thought to be a multifactorial condition in which one or more genes combine with environmental factors to reach disease. Methods: We reviewed controlled studies on possible environmental risk factors for...
OBJECTIVE To characterize the clinical and genetic features of cervical dystonia (CD). METHODS Participants enrolled in the Dystonia Coalition biorepository (NCT01373424) with initial manifestation as CD were included in this study (n = 1,000). Data intake included demographics, family history, and the Global Dystonia Rating Scale. Participants were screened for sequence variants (SVs) in GNA...
BACKGROUND AND PURPOSE Primary focal or segmental dystonia is a rare clinical condition. The clinical features of dystonia have not been evaluated in China. We performed a study to investigate the epidemiology of primary dystonia and its clinical variants in an adult population. METHODS A Botulinum Toxin Clinic-based study was conducted in the period 18 May through 8 October 2010 in East Chin...
INTRODUCTION Endolaryngeal injection of botulinum toxin into the thyroarytenoid (TA) muscle is one of the methods for treatment of focal laryngeal dystonia. However, after treatment, there is variation in laryngeal configuration as well as the side effects reported by patients. As a consequence of the functional variability of results, it was hypothesized that botulinum toxin diffuses beyond t...
Although coding variants in THAP1 have been causally associated with primary dystonia, the contribution of noncoding variants remains uncertain. Herein, we examine a previously identified Intron 1 variant (c.71+9C>A, rs200209986). Among 1672 subjects with mainly adult-onset primary dystonia, 12 harbored the variant in contrast to 1/1574 controls (P < 0.01). Dystonia classification included cerv...
UNLABELLED The purpose of this review is to determine what neural mechanisms may be dysfunctional in stuttering. Three sources of evidence are reviewed. First, studies of dynamic inter-relationships among brain regions during normal speech and in persons who stutter (PWS) suggest that the timing of neural activity in different regions may be abnormal in PWS. Second, the brain lesions associated...
The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although ~10% of probands have at least one first- or second-degree relative to dystonia, large families suited for linkage analysis are exceptional. After excluding mutations in known primary dystonia genes (TOR1A, THAP1 and CIZ1), whole-exome sequencing identified a GN...
Laryngeal dystonia or spasmodic dysphonia is characterized by involuntary and inappropriate spasms of vocal muscles, having the adductor type as the most common one. It is characterized by strain-strangled voice with pitch breaks. Diagnosis is made by means of videolaryngostroboscopic exam. The treatment of choice is done with botulinum toxin directly injected in the muscles responsible for the...
OBJECTIVE To determine the impact on quality of life of botulinum toxin treatments for common dystonias of the head and neck. DESIGN Cross-sectional survey study of a patient cohort treated with botulinum toxin injections for spasmodic dysphonia (SD) or oromandibular dystonia (OMD). INTERVENTIONS AND OUTCOME MEASURES The Glasgow Benefit Inventory was used to quantify the health benefit of t...
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