Active clinical trials for "Dystonic Disorders"

This study will collect information on (tricks) patients with focal dystonia use to relieve their symptoms. Dystonia is a movement disorder caused by sustained muscle contractions often causing twisting and abnormal posturing. Dystonia may be generalized, affecting at least one leg and the trunk of the body, segmental, affecting adjacent body parts, or focal, affecting a single body part, such as the hand or eyelid. It may be task-specific, such as writer's, musician's or sportsman's cramps. Some patients with focal dystonia use (tricks), such as touching the face or hand, to stop or alleviate the abnormal movement. This study will survey the types of tricks people with focal dystonia use in order to learn more about the disorder. Patients 18 years of age and older with focal dystonia may be eligible for this study. Candidates will be screened for eligibility with a medical history, clinical evaluation, and review of their medical records. In one 30- to 45-minute clinic visit, participants will be interviewed about their dystonia symptoms and the tricks they use to relieve the symptoms. They may be asked to show the investigators how the tricks work

Functional neurological disorders (FND) are neurological symptoms that cannot be explained by a lesion or related to an identified dysfunction of the central nervous system. FND are under-diagnosed, although common and highly disabling. Childhood trauma events are found in 30% to 80% of FND patients, and are more common in people with functional neurological disorder than in healthy controls and patient controls. Overall, risks factors, perpetuating factors and maintaining factors have been described in FND, although none of the studies have analysed the prevalence of Early Maladaptive Schemas (EMS) in these patients. EMS, as measured with the Young Schema Questionnaire (YSQ), are proposed to underlie a variety of mental health problems, in particular Personality Disorders. We hypothesize that some of these early maladaptive schemas may participate in the psychopathology and severity of FND. The main outcome of this study is to assess the prevalence of early maladaptive schemas in patients presenting with Functional Movement Disorders in comparison to patients presenting with Parkinson's Disease or Organic Dystonia. The secondary outcomes are to further analyse the underlying relation of these early maladaptive schemas and (i) the severity of the motor symptoms, (ii) anxiety and/or depression, (iii) the occurrence of childhood trauma events in our participants.

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.

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.

Deep Brain Stimulation (DBS) is an FDA approved, and widely used method for treating the motor symptoms of Parkinson's Disease (PD), Essential Tremor (ET) and Dystonia. Over 100,000 patients worldwide have now been implanted with DBS devices. The DBS target regions in the brain are the Subthalamic nucleus (STN), the Internal Segment of Globus Pallidus (GPi), or the Ventral Intermediate Nucleus of the Thalamus (VIM). In order to place the DBS electrode in the target location, a combination of two 3D imaging techniques; 3D MRI and CT, are used. Data are also collected from individual nerve cells to help find the best location for the DBS electrode in each patient. This electrode recording takes place during the standard surgical implantation of the DBS electrode, and is part of the standard clinical technique. The investigators plan to collect additional data from populations of neurons during the DBS surgery in an effort to further improve the placement of the DBS electrode. These "Local Field Potentials", LFPs, represent the activity of the collection of neurons surrounding the tip of the electrode, and will be measured during surgery along the path used for the placement of the DBS electrode. The goal of this project is to determine whether this additional data from surrounding neurons will help with optimal placement of the DBS electrode.

Dystonia is a disorder characterized by excessive involuntary contraction of muscles with repetitive and patterned movements. The isolated dystonias are the most common type of dystonia and include Limb dystonias (like writer's cramp), Cervical dystonia (spasmodic torticollis), Laryngeal dystonias (like spasmodic dysphonia), and Craniofacial dystonias (like blepharospasm). The purpose of this study is to create resources to help learn more about the isolated dystonias, myoclonus dystonia, and dopa-responsive dystonia and to develop and validate various dystonia rating scales.

This study will investigate differences among people with focal dystonia (FD), complex regional pain syndrome (CRPS) and people who have both conditions to learn more about the cause of both disorders. Participants undergo the following procedures in five visits: Electroencephalography (EEG). Electrodes (metal discs) are placed on the scalp with an electrode cap, a paste or a glue-like substance. The spaces between the electrodes and the scalp are filled with a gel that conducts electrical activity. Brain waves are recorded while the subject lies quietly and sensory stimulation is applied to the thumb or finger. Magnetic resonance imaging (MRI). This test uses a magnetic field and radio waves to obtain images of body tissues and organs. The patient lies on a table that can slide in and out of the scanner, wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. The procedure lasts about 45 minutes, during which time the patient will be asked to lie still for up to 15 minutes at a time. Transcranial magnetic stimulation (TMS). An insulated wire coil is placed on the scalp and a brief electrical current is passed through the coil. The current induces a magnetic field that stimulates the brain. There may be a pulling sensation on the skin under the coil and a twitch in muscles of the face, arm or leg. During the stimulation, subjects may be asked to keep their hands relaxed or to contract certain muscles. Peripheral electrical stimulation. In two experiments, TMS is combined with peripheral electrical stimulation, similar to what is used in nerve conduction studies, to the median nerve at the wrist. There may be muscle twitching. Surface electromyography. For TMS tests and peripheral electrical stimulation, electrodes are filled with a conductive gel and taped to the skin to record the electrical activity of three muscles on the right hand. Needle EMG. A needle is inserted into a muscle to record the electrical activity. Nerve conduction studies. A probe is placed on the skin to deliver a small electrical stimulus, and wires are taped to the skin record the nerve impulses. These studies measure the speed with which nerves conduct electrical impulses and the strength of the connection between the nerve and the muscles. Skin biopsy. Two sites are biopsied. A local anesthetic is given to numb the area and a 1/4-inch piece of skin is removed with a special tool. JVP domes. Subjects are tested for their ability to discriminate sensory stimuli in the affected region and on the other side of it. They are asked to discriminate between stamps with grooves of different widths that are applied to the hands or feet.

This study will examine how the brain operates during execution and control of voluntary movement and what goes wrong with these processes in disease. It will use electroencephalography (EEG) and electromyography (EMG) to compare brain function in normal subjects and in patients with focal hand dystonia. In dystonia, involuntary muscle movements, or spasms, cause uncontrolled twisting and repetitive movement or abnormal postures. Focal dystonia involves just one region of the body, such as the hand, neck or face. EEG measures the electrical activity of the brain. The activity is recorded using wire electrodes attached to the scalp or mounted on a Lycra cap placed on the head. EMG measures electrical activity from muscles. It uses wire electrodes placed on the skin over the muscles. Adult healthy normal volunteers and patients with focal hand dystonia may be eligible for this study. Patients will be selected from NINDS's dystonia patient database. Participants will sit in a semi-reclining chair in a darkened room and be asked to move either their right index finger, right foot, or the angle of their mouth on the right side at a rate of one movement every 10 seconds. Brain and muscle activity will be measured during this task with EEG and EMG recordings.

To better define the clinical characteristics of oromandibular dystonia, we aimed to study voice, speech and swallowing disorders in idiopathic oromandibular We planned to include consecutive patients followed in Lille Movement disorders department for idiopathic oromandibular dystonia and matched, healthy control subjects. Voice and speech disorders had to be assessed with the phonetic analysis, perceptive analysis and motor examination modules of the "Batterie d'Evaluation Clinique de la Dysarthrie" (Clinical Evaluation of Dysarthria), the Grade, Rough, Breathy, Asthenic, Strained scale, and a computer recording. Activities of daily living had to be assessed with the Oromandibular Dystonia Questionnaire, the Voice Handicap Index and the Deglutition Handicap Index.

The purpose of this study is to determine how common fatigue and sleepiness are in patients with dystonia.