View clinical trials related to Dystonia.
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.
In certain neurosurgical procedures, the use of a stereotaxic frame is required. It is then possible to set a precise target (depending of the type of the surgery) to be reached by the surgeon. The fixation of the stereotactic frame on the awake patient's head is done under local anesthesia by screwing the frame directly into the skull. This procedure is reported as "painful" to "extremely painful" by patients. The objective of this study is to determine whether the hypnosis is effective in decreasing the pain perceived by the patient during the disposal of the stereotactic frame.
The contribution of genetic risk factors to the development of focal dystonias is evident. However, understanding of how variations in the causative gene expression lead to variations in brain abnormalities in different phenotypes of dystonia (e.g., familial, sporadic) remains limited. The research program of the investigators is set to determine the relationship between brain changes and genetic risk factors in laryngeal dystonia (or spasmodic dysphonia). The researchers use a novel approach of combined imaging genetics, next-generation DNA sequencing, and clinical-behavioral testing. The use of a cross-disciplinary approach as a tool for the discovery of the mediating neural mechanisms that bridge the gap from DNA sequence to the pathophysiology of dystonia holds a promise for the understanding of the mechanistic aspects of brain function affected by risk gene variants, which can be used reliably for the discovery of associated genes and neural integrity markers for this disorder. The expected outcome of this study may lead to better clinical management of this disorder, including its improved detection, accurate diagnosis, and assessment of the risk of developing dystonia in family members.
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.
Background: Researchers have some data on how the brain controls movement and why some people have tremor. But the causes of tremor are not fully known. Researchers want to study people with tremor to learn about changes in the brain and possible causes of tremor. Objective: To better understand how the brain controls movement, learn more about tremor, and train movement disorder specialists. Eligibility: People ages 18 and older with a diagnosed tremor syndrome Healthy volunteers ages 18 and older Design: Participants will be screened with: - Medical history - Physical exam - Urine tests - Clinical rating scales - Health questions - They may have electromyography (EMG) or accelerometry. Sensors or electrodes taped to the skin measure movement. Participation lasts up to 1 year. Some participants will have a visit to examine their tremor more. They may have rating scales, EMG, and drawing and writing tests. Participants will be in 1 or more substudies. These will require up to 7 visits. Visits could include the following: - EMG with accelerometry - Small electrodes taped on the body give small electric shocks that stimulate nerves. - MRI: Participants lie on a table that slides into a cylinder that takes pictures of the body while they do simple tasks. - Small electrodes on the scalp record brain waves. - A cone with detectors on the head measures brain activity while participants do tasks. - A wire coil held on the scalp gives an electrical current that affects brain activity. - Tests for thinking, memory, smell, hearing, or vision - Electrodes on the head give a weak electrical current that affects brain activity. - Photographs or videos of movement Participant data may be shared with other researchers.
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.
Dystonia is increasingly being considered as a multi-nodal network disorder involving both basal ganglia and cerebellar dysfunction. The aim of this study is to determine if "Multi-Target" Thalamic and Pallidal Deep Brain Stimulation improves hemi-dystonia patients who are receiving inadequate therapy from GPi DBS.
To address joint position sense in cervical dystonia patients and how it affects the brain activity.