View clinical trials related to Dystonic Disorders.
Filter by:Dystonia is a movement disorder seen in both children and adults that is characterized by "sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both." Secondary dystonia is far more common in pediatric populations than primary dystonia, and far more recalcitrant to standard pharmacologic and surgical treatments including Deep Brain Stimulation (DBS). There exists a large unmet need to develop new therapeutics, treatment strategies, and outcome measures for pediatric secondary dystonia. The investigators are proposing to investigate the ventralis oralis posterior nucleus (Vop) of the thalamus as a new target for DBS in secondary dystonia. Prior to the development of DBS, the main surgical treatment of dystonia was thalamotomy. Although there were many different targets in the thalamus, often done in staged procedures, the most common and successful targeted nuclei was the Vop, which is traditionally thought to be the pallidal receiving area. Previous lesioning of Vop produced improvements in dystonia but intolerable side effects, especially when implanted bilaterally. However, given that secondary dystonia patients were often reported to have superior results to primary dystonia it is reasonable to believe that if the side effects can be modulated, that targeting of the Vop nucleus with DBS could be a viable alternative to Globus Pallidus interna (GPi). Given that Deep Brain Stimulation is a treatment that is inherently adjustable, it is conceivable that settings on the Deep Brain Stimulation could be adjusted to allow for clinical benefit with minimal side effects. Indeed, there have been several scattered successful case reports attesting to this possibility.
Task-specific focal dystonias are characterized by selective activation of dystonic movements during performance of highly learned motor tasks, such as writing or playing a musical instrument. To date, there is only limited knowledge about the distinct neural abnormalities that lead to the development of task-specificity in focal dystonias, which affect similar muscle groups but result in different clinical manifestations, such as writer's cramp vs. pianist's dystonia or spasmodic dysphonia vs. singer's dystonia. Our goal is to dissect the pathophysiological mechanisms underlying the phenomenon of task specificity in isolated focal dystonias using multi-level brain network analysis in conjunction with neuropathological examination of postmortem brain tissue from patients with dystonia. Rather than viewing these disorders as interesting curiosities, understanding the biology of task-specific activation of motor programs is central to understanding dystonia.
Background: Essential tremor is when a person has tremor, but no other neurological symptoms. Dystonic tremor is when a person also has dystonia. Dystonia is a condition in which muscle contraction causes changes in posture. Researchers do not fully know what areas of the brain cause these tremors, or how the types differ. They also do not know what tests can identify the differences. Objective: To look at differences between essential tremor and dystonic tremor. Eligibility: People ages 18 and older with or without tremor Design: Participants will be screened with medical history, physical exam, and urine tests. Those with tremor will complete questionnaires about how tremor affects them. The screening and study visits can be done on the same day or on separate days. Participants will have 1 or 2 study visits. These include magnetic resonance imaging (MRI) and tremor testing. For MRI, participants will lie on a table that slides in and out of a cylinder that takes pictures. Sensors on the skin measure breathing, heart rate, and muscle activity. This takes about 2 hours. Tremor testing will include transcranial magnetic stimulation (TMS), electrical stimulation of the fingers, doing a movement task, and recording of tremor movements. For TMS, two wire coils will be held on the scalp and a brief magnetic field will be produced. A brief electrical current will pass through the coils. For the other tests, small sticky pad electrodes will be put on the skin. Participants will move their hand when they hear a sound. They will get weak electrical shocks to their fingers. These tests will take 3-4 hours. Participants can take part in either or both parts of the study.
To see whether MINGO, a food supplement, will be able to lessen the drastic weight loss seen among X-linked Dystonia Parkinsonism patients.
The purpose of this study is to evaluate the safety and effectiveness of deep brain stimulation (DBS) of the subthalamic nucleus (STN) and globus pallidus internus (GPi) for primary dystonia.
To address joint position sense in cervical dystonia patients and how it affects the brain activity.
Focal dystonia is a neurological movement disorder characterized by excessive involuntary muscle contractions of any body part. Spasmodic dysphonia (SD) is a type of focal dystonia characterized by excessive contraction of intrinsic muscles in the larynx, leading to difficulty in speaking and affecting effective communication. The cause of SD is unknown and there are no treatments that produce long-term benefits. Previous studies have suggested that SD and other focal dystonias are associated with decreased inhibition in sensorimotor areas in the brain. However, no studies have investigated the effects of modulating excitability of the laryngeal motor cortex in healthy individuals or SD. The goal of this pilot project is to determine if brain excitability of the laryngeal motor cortex can be changed with low-frequency inhibitory repetitive transcranial magnetic stimulation (rTMS) in individuals with SD and healthy controls. Considering that rTMS at low frequencies (≤1 Hz) produces lasting inhibition in the brain, and that SD is associated with decreased cortical inhibition, the purpose of this pilot study is to determine safety, feasibility and response to 1Hz rTMS to the laryngeal motor cortex in individuals with SD and healthy people. The results will help understand changes associated with the disorder, as well as contribute to the development of future clinical interventions for SD.
Cervical dystonia (CD) is a syndrome characterized by sustained and/or phasic involuntary neck muscle activity causing abnormal head postures and movements. It is the most frequent form of adult focal dystonia. The distribution of dystonic muscles is unique for each patient, explaining the variety of patterns encountered. The therapeutic management of CD is essentially local and symptomatic: Botulinum Neurotoxin injections and/or specific retraining therapy programmes. Therefore, analyzing the characteristics of abnormal head movements and identifying the dystonic muscles are the key points of these treatments. To a better understanding of the posture and movement disorders of head and neck, we wish to establish a three-dimensional (3-D) computer model of cervical spine movements of ten healthy subjects built from images obtained with the "Cone Beam " system. Then we will compare the cervical posture and movements for each of ten CD patients matched in age and genre to the computer model. Comparison with patients' images in the axial plane reconstructed by computer with the 3-D computer model will lead to the description of various patterns of CD. Analysis of the musculoskeletal disturbances in CD should be a help to improve the localization of Botulinum Neurotoxin injection sites as well as retraining programmes.
The purpose of this study is to compare the cervical muscular force control , taking into account the proprioceptive signals, in patients with and without cervical dystonia.
Dystonia is defined as a syndrome of sustained muscle contractions resulting in repetitive movements and abnormal postures. DYT1 is the most common form of genetic dystonia, but the link between genomic mutations and phenotypic expression remains largely unknown. Furthermore, secondary forms of dystonia have highlighted the role of the basal ganglia, particularly the putamen in the pathophysiology of the disease. Experimental results in a genetic model of dystonia in rodents suggest that cholinergic inter-neurons (ACh-I) of the putamen play a critical role in the pathological process of plasticity in the cortico-striatal synapse. However, these results have not been demonstrated in humans.