Theta-burst Transcranial Magnetic Stimulation
DystoniaTheta-burst transcranial magnetic stimulation (TBS) is a type of repetitive transcranial magnetic stimulation (rTMS) method that reduces the excitability of a small region of brain for less than one hour. Since dystonia and spasticity may be associated with increased excitability of motor cortex, we expect that by reducing the excitability of motor cortex with TBS we will temporarily improve these symptoms and hopefully open avenues in the future for the use of TBS as a new, non-invasive therapeutic intervention to aid in physical therapy and symptom amelioration of dystonia and spasticity. We will test for motor improvement during the hour immediately following TBS using tests of muscle function and quality of limb movement.
Enhancing Sensorimotor Processing in Children With Dystonia
DystoniaDystonic Cerebral Palsy5 moreDystonia is a severely disabling movement disorder with no cure, in which people suffer painful muscle spasms causing twisting movements and abnormal postures. There are many causes, including genetic conditions and brain injury. The most common cause in childhood is dystonic cerebral palsy (CP) which often affects the whole body. The underlying mechanisms are unknown, but there is growing evidence to implicate abnormal brain processing by the brain of incoming "sensory" information (e.g., signals to the brain from our senses of touch and body position): the distorted perception of these signals disrupts the way the brain produces instructions for planning and performing movements. The investigator's previous studies have shown that the way the brain processes sensory information related to movement is abnormal in children with dystonia and dystonic CP, by using methods that record the EEG (electroencephalogram - brain wave signals) and/or EMG (electromyogram - electrical signal from muscles). A specific brain rhythm (called mu) typically shows well-defined changes in response to movement, and reflects processing of sensory information. The investigator's work shows these rhythm changes are abnormal in children with dystonia/dystonic CP. This study will explore if these findings can improve treatment. In particular the study team will investigate whether children and young people with dystonia/dystonic CP can enhance these mu rhythm responses during a movement task by using feedback of their brain rhythms displayed as a cartoon/game on a computer. The investigators will also assess whether enhanced mu activity is associated with improved movement control. This would open future possibilities to use such devices for therapy/rehabilitation. Children and young people with dystonia/dystonic CP aged 5-25 years will be recruited, along with age-matched controls. Studies will last 2-3 hours with time for breaks and will be conducted at Evelina London Children's Hospital and Barts Health Trust, with the option for home visits if preferable for families.
EMOTION & COGNITION IN MYOCLONUS DYSTONIA (AGENT10-ECODYST)
Myoclonus-DystoniaDYT11Background: Myoclonus dystonia (DYT-SGCE) is characterized by myoclonus and dystonia. Such condition is associated with a high prevalence of psychiatric symptoms which are part of the phenotype. The mechanisms underlying these non-motor symptoms are still poorly understood. Objective: To investigate the neural correlates of cognition and emotion in DYT-SGCE. Design: Participants will have 1 - 2 visits at the clinical center. The total participation time is less than 24 hours. Participants will have a medical interview and a neurological exam. They may give a urine sample before MRI. Participants will have a short neuropsychologic and psychiatric interviews. Participants will have MRI scans. They will do small tasks or be asked to imagine things during the scanning.
Three-dimensional Analysis of Obliquus Capitis Inferior Muscle Function in the Rotatory Form of...
Cervical DystoniaCervical dystonia is the most common form of focal dystonia in adults (50-82%). It manifests itself by a abnormal attitude of the head, intermittent or permanent, due to involuntary contraction of the cervical muscles which appears or is accentuated on the occasion of voluntary movement and maintenance posture. The distribution of dystonic muscles is specific to each patient explaining the diversity of patterns encountered. The therapeutic management of DC is essentially local and symptomatic. It is based on the realization of injections of neuro botulinum toxin (BoNT) targeting target (dystonic) muscles responsible for involuntary movements or posture abnormal. Identifying the muscles involved is a step prerequisite for therapeutic intervention.The obliquus capitis inferior (OCI) also known as Lower Oblique belongs to the group of suboccipital muscles.It is the only suboccipital muscle that does not attach to the skull. Its unilateral contraction causes ipsilateral rotation of C1 therefore of the head. The length of the transverse process of the atlas gives it considerable rotary efficiency. It is described as the cephalic rotation starter muscle. It would perform the 30 first degrees of rotation. The rotation of the whole column cervical would then be continued by the synergistic action of the muscle contralateral sternocleidomatoid and Spl. ipsilateral. The level of joint complex C1-C2 the amplitude of rotation corresponds to approximately 50% of the total rotation of the cervical spine. In order to better understand the part played by the OCI muscle in the disorganization of posture and cervical movements in the axial plane (plane of rotation) in the rotary DC, the investigators want biomechanically analyze its function in pathological situation. The physiology of this muscle is richly documented in healthy subjects. But does this knowledge apply in DC? Acquisition of imagery by the "Cone Beam" or CBCT system (Cone Beam Computed Tomography) before and 5 weeks after the injection of BoNT, will allow the analysis of the displacement of each vertebrate.
Analysis of Gait Before and After Botulinum Toxin Treatment in Patients With Focal Dystonia
Cervical DystoniaPrimary1 moreEfficient gait requires effective postural control, both static and dynamic. Hence, postural disorders may affect gait. Yet, very little is known about the specific effects of focal postural disorders such as cervical dystonia (CD) and blepharospasm (BS) on patients' mobility. The present research therefore aims at analyzing gait characteristics in patients presenting with these conditions in order to document possible gait alterations. In addition, the investigators will explore the effect of botulinum toxin treatment, which the most frequently used therapeutic option, on the patients' gait characteristics. Indeed, while the treatment improves both dystonia and pain, and therefore quality of life, its influence on gait is presently unknown. the investigators aim at filling this knowledge gap
rTMS in Spasmodic Dysphonia
Spasmodic DysphoniaLaryngeal DystoniaFocal 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.
Efficacy of Levetiracetam in Oromandibular and Cranial Dystonia
Oromandibular DystoniaCranial DystoniaBackground: - People with dystonia cannot control their muscle contractions. This disorder can affect different body areas. When it affects the face, tongue, and jaw, it is called oromandibular dystonia (OMD) or cranial dystonia (CD). Researchers want to find out if a drug that treats seizures may help people with this kind of dystonia. Objective: - To see if levetiracetam can improve symptoms of jaw or face dystonia. Eligibility: - Adults ages 18 to 80 years with OMD or CD. Design: Participants will be screened with a medical history and physical exam. Researchers will test how severe their dystonia is. Participants will have blood drawn through a needle in the arm. Participants will be assigned to take either levetiracetam or placebo. Phase 1: Participants will start with one 500-mg tablet twice daily. The dose will be increased by 500 mg every 3 days. The maximum dose will be 4000 mg a day over 3 weeks. Participants who cannot tolerate that will take the highest dose they can. Participants will return for study visits at weeks 3 and 6. They will be asked about their health, side effects, and symptoms of depression. They will have a neurological examination and test of their dystonia. After the week 6 visit, participants will taper and stop the study drug over about 1 week. Phase 2 begins one week later. Participants will repeat phase 1, but with the other drug. After phase 2, participants will return to their usual clinics. They will be told how to stop taking the drug. They will have a follow-up phone call 2 weeks later.
Physiological Investigations of Movement Disorders
Parkinson's DiseaseTourette's Syndrome3 moreBackground: Previous studies have given researchers information on how the brain controls movement, how people learn to make fine, skilled movements, and why some people have movement disorders. However, further research is needed to learn more about the causes of most movement disorders, such as Parkinson's disease. By using small, specialized studies to evaluate people with movement disorders and compare them with healthy volunteers, researchers hope to learn more about the changes in the brain and possible causes of movement disorders. Objectives: To better understand how the brain controls movement. To learn more about movement disorders. To train movement disorder specialists. Eligibility: Individuals 18 years of age or older who have had a movement disorder diagnosed by a neurologist and are able to participate based on the specific requirements of the small study. Healthy volunteers 18 years of age or older. Design: Participants will have a screening visit with medical history, physical examination, and questionnaire to determine eligibility. Eligible participants will give consent to participate in up to seven additional outpatient visits for study procedures. The number of sessions and the procedures needed for participation depend on specific symptoms. Participants must avoid drinking alcohol or caffeinated drinks (sodas, coffee, and tea) for at least 2 days (48 hours) before each session. Potential studies may include magnetic resonance imaging (MRI) scans, functional MRI scans, electroencephalography, magnetoencephalography, transcranial magnetic stimulation, nerve and sensory stimulation, or movement and mental tasks during any of the above procedures. This study does not provide treatment for movement disorders. Participants will not have to stop any treatment in order to participate.
Electrophysiological and Neuroimaging Correlates of the Effect of Zolpidem in Patients With Focal...
Focal DystoniaTo study electrophysiological and imaging correlations of the clinical effectiveness of zolpidem in task-specific dystonia and to elucidate mechanisms underlying its therapeutic effects, patients with focal dystonia will be clinically evaluated and will undergo transcranial magnetic stimulation and FDG-PET CT brain imaging after a single 5 mg dose of zolpidem and placebo, in two separate sessions. Resting motor threshold (RMT), active motor threshold (AMT), resting and active input/output (IO) curve, short-interval intracortical inhibition (SICI) curve, long interval intracortical inhibition (LICI), intracortical facilitation (ICF), and cortical silent period (CSP) will be measured. Objective clinical improvement will be rated using Burke-Fahn-Marsden Dystonia Rating Scale-movement (BFM-M) and writer's cramp rating scale (WCRS). Subjective improvement will be measured using the visual analog scale (VAS). Only a subset of patients (10 patients) will undergo positron emission tomography with 18F-2-fluoro-2-deoxy-D-glucose (18F-FDG PET) brain imaging after a single 5 mg dose of zolpidem and placebo.
Repetitive Transcranial Magnetic Stimulation (rTMS) for Dystonia and Tremor
DystoniaTremorThe study will include subjects diagnosed with Dystonic Tremor (DT), Essential Tremor (ET), and healthy controls in the age range of 21-80 years. Electroencephalography (EEG) will be used as the primary outcome measure. Transcranial Magnetic Stimulation (TMS) will be used over the motor cortices or cerebellar cortices as an intervention that is expected to have short-term (less than an hour) electrophysiological effects.