Active clinical trials for "Dystonia"

X-linked dystonia-parkinsonism (XDP) is a rare, X-linked, adult-onset, and progressive movement disorder seen almost exclusively in men from Panay Island in the Philippines. The disease is associated with mutations involving the DYT3/TAF1 gene, and all the cases described so far have been linked to Filipino ancestry. Although XDP is very rare globally, the prevalence is 5.74 per 100,000 individuals in Panay Island and 0.31 per 100,000 in the Philippines as a whole. Majority of patients (95%) were males, and the mean age of onset was 39 years. The mean duration of illness was 16 years, and the mean age of death was 55.6 years.

In this study we are looking at primary focal dystonias, including dystonias of the limbs, eyes, jaw or face, neck, and vocal chords. This study will use magnet resonance imaging (MRI) to see how the brain reacts while resting and doing a finger-tapping task. The investigators will test the hypothesis that disturbances in functional connectivity within the motor, affective and cognitive basal ganglia networks in primary focal dystonia (PFD) underlie the motor and non-motor symptoms in this disorder.

This is an observational study to assess health-related quality of life in patients with cervical dystonia (dystonie) treated with OnabotulinumtoxinA per routine clinical practice.

A handheld surface electromyography device will be tested by clinicians on children with limb hypertonia, and inter-rater reliability will be assessed with and without the device.

Dr. Sanger and the research team want to learn about upper extremity hypertonia (stiffness) in children and young adults with cerebral palsy. Specifically, they want to learn about ways to measure the stiffness in the joints of hypertonic arms. The information the research team will collect includes any physical exams or computer generated data about your arm movements.

This study will use a technique called blink reflex to study and compare how the brain controls muscle movement in patients with craniofacial dystonia, their first-degree relatives, and healthy, normal volunteers. People with dystonia have sustained muscle contractions that cause twisting and repetitive movements or abnormal postures. In focal dystonia, this happens in one area of the body, such as the hand, neck, or face. Three groups of people may be eligible for this study: 1) patients 18 years of age and older with craniofacial dystonia; 2) first-degree relatives of patients with craniofacial dystonia; and 3) normal volunteers matched in age to the patients. Candidates are screened with physical and neurological examinations. Participants undergo a blink reflex study. Patients with dystonia who are receiving botulinum toxin injections must stop the medication 3 months before participating in the study and must stop any other dystonia medications, such as benzodiazepines and anticholinergics, for 12 hours before the study. For the blink reflex procedure, subjects are seated in a comfortable chair with their hands placed on a pillow on their lap. Metal electrodes are taped to the forehead for delivering small electrical shocks that feel like very brief pinpricks. Subjects receive 25 to 50 electrical stimuli, some as single shocks and some in pairs. The electrical activity of muscles that respond to the stimuli is recorded with a computer. The study takes from about 1 to 2 hours.

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.