Movement-Related Brain Networks Involved in Hand Dystonia
Movement DisorderFocal DystoniaThis study will use various methods to measure the activity of the motor cortex (the part of the brain that controls movements) in order to learn more about focal hand dystonia. Patients with dystonia have muscle spasms that cause uncontrolled twisting and repetitive movement or abnormal postures. In focal dystonia, just one part of the body, such as the hand, neck or face, is involved. Patients with focal hand dystonia and healthy normal volunteers between 18 and 65 years of age may be eligible for this study. Each candidate is screened with a medical history, physical examination and questionnaire. Participants undergo the following procedures: Finger Movement Tasks Subjects perform two finger movement tasks. In the first part of the study, they move their index finger repetitively from side to side at 10-second intervals for a total of 200 movements in four blocks of 50 at a time. In the second part of the study, subjects touch their thumb to the other four fingers in sequence from 1, 2, 3 and 4, while a metronome beats 2 times per second to help time the movements. This sequence is repeated for a total of 200 movements in four blocks of 50 at a time. Electroencephalography This test records brain waves. 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 performs a finger movement task, as described above. Magnetoencephalography MEG records magnetic field changes produced by brain activity. During the test, the subjects are seated in the MEG recording room and a cone containing magnetic field detectors is lowered onto their head. The recording may be made while the subject performs a finger task. Electromyography Electromyography (EMG) measures the electrical activity of muscles. This study uses surface EMG, in which small metal disks filled with a conductive gel are taped to the skin on the finger. Magnetic resonance imaging MRI uses a magnetic field and radio waves to produce images of body tissues and organs. The patient lies on a table that can slide in and out of the scanner (a narrow metal cylinder), wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning. Most scans last between 45 and 90 minutes. Subjects may be asked to lie still for up to 30 minutes at a time, and can communicate with the MRI staff at all times during the procedure. Questionnaire This questionnaire is designed to detect any sources of discomfort the subject may have experienced during the study.
Surround Inhibition in Patients With Dystonia
Dystonic DisordersHealthyThis study will use transcranial magnetic stimulation (TMS) to examine how the brain controls muscle movement in dystonia. Dystonia is a movement disorder in which involuntary muscle contractions cause uncontrolled twisting and repetitive movement or abnormal postures. Dystonia may be focal, involving just one region of the body, such as the hand, neck or face. Focal dystonia usually begins in adulthood. Generalized dystonia, on the other hand, generally begins in childhood or adolescence. Symptoms begin in one area and then become more widespread. Healthy normal volunteers and patients with focal [or generalized] dystonia [between 21 and 65 years of age] may be eligible for this study. Participants will have transcranial magnetic stimulation. For this test, subjects are seated in a comfortable chair, with their hands placed on a pillow on their lap. An insulated wire coil is placed on the scalp. A brief electrical current is passed through the coil, creating a magnetic pulse that stimulates the brain. (This may cause muscle, hand or arm twitching if the coil is near the part of the brain that controls movement, or it may induce twitches or transient tingling in the forearm, head or face muscles.) During the stimulation, subjects will be asked to either keep their hand relaxed or move a certain part of the hand in response to a loud beep or visual cue. Metal electrodes will be taped to the skin over the muscle for computer recording of the electrical activity of the hand and arm muscles activated by the stimulation. There are three parts to the study, each lasting 2-3 hours and each performed on a separate day.
Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias
DystoniaThe investigators will study the relationship between the basal ganglia and the cerebellum in dystonia by associating cerebellar stimulations with functional magnetic resonance imaging analysis.
Motor and Non-motor Symptoms in Cervical Dystonia
DystoniaFocalIn this monocenter, observational, non-interventional, prospective, open label study investigators will enrol 43 CD patients from the outpatient Movement Disorders Clinic of the Department of Human Neurosciences, Sapienza University of Rome. As this is a non-interventional study, no diagnostic, therapeutic or experimental intervention is involved. Subjects will receive clinical assessments, medications and treatments solely as determined by their study physician. The BoNT-A injection will be performed in CD patients at baseline. As this is an observational, non-interventional study, the injection protocol for BoNT-A treatment is upon physicians' decision. All CD patients will undergo up to three evaluations of motor and non-motor symptoms: before (baseline) and 1 month and 3 months after botulinum toxin treatment. Both evaluations will be carried out under the same conditions. Motor symptoms will be assessed in all CD using the Comprehensive Cervical Dystonia Rating scale (CCDRS) (Comella et al, 2015). Non-motor symptoms including psychiatric, psychological and sleep disorders will be investigated. Psychiatric symptoms will be assessed with CCDS, Hamilton Rating Scale for Anxiety (HAM-A) and the Hamilton Rating Scale for Depression (HAM-D); the psychological symptoms will be assessed with the demoralization scale (Kissane et al, 2004) and the Italian Perceived Disability Scale (Innamorati et al,2009). Sleep disorders will be investigated with the Pittisburg Sleep Quality Index (PSQI) (Buysse et al, 1989).
Examining the Spasmodic Dysphonia Diagnosis and Assessment Procedure (SD-DAP) for Measuring Symptom...
Spasmodic DysphoniaLaryngeal DystoniaThis is a study of patients with spasmodic dysphonia to determine how best to measure the severity of the disorder in patients. It addresses which characteristics of speech are the best indicator of whether or not a particular treatment has benefited a person with spasmodic dysphonia. We hope to recruit 20 participants each at 2 different centers. The evaluation for each participant will be done on a two visits, one just before and another several weeks after treatment.
Humanitarian Device Exemption
DystoniaThe purpose of this study is to allow patients to undergo deep brain stimulation (DBS) surgery for the treatment of dystonia. This is NOT a research study, but rather, a requirement by the FDA for humanitarian use of the deep brain stimulator device in the treatment of this rare disorder. Use of DBS for dystonia is approved for humanitarian use by the FDA in the treatment of chronic, intractable (drug refractory) dystonia, including generalized and segmental dystonia, hemidystonia, and cervical dystonia (torticollis) in patients 7 years or older. Thus, this proposal request authorization by the IRB to allow patients at VUMC to access this HUD therapy.
Imaging Neuromelanin and Iron in Dystonia/Parkinsonism
Sporadic DystoniaDystonia5 moreTo generate pilot data to investigate the potential to use in vivo iron- and neuromelanin-quantification as imaging tools for the diagnostic evaluation of movement disorders with predominant dystonia / parkinsonism. To this end we are planning to compare the MR imaging neuromelanin and iron-pattern and content in midbrain, striatum and further brain structures in clinically similar entities and respective, sex- and age-matched healthy controls.