To date, there is only limited knowledge about the distinct neural abnormalities that lead to the development of different forms of focal dystonia. The goal of this study is to dissect the pathophysiological mechanisms underlying this clinical phenomenon using multi-level brain network analysis in patients with focal dystonia.
Patients will have clinically documented focal dystonia
Unaffected relatives of patients with focal dystonia
Healthy controls will be healthy volunteers with a negative history of neurological, laryngeal or psychiatric problems
Age from 21 to 80 years.
Subjects who are incapable of giving an informed consent.
Pregnant or breastfeeding women until a time when they are no longer pregnant or breastfeeding. All women of childbearing potential will have a urine pregnancy test performed, which must be negative for participation in the imaging studies.
Subjects with past or present medical history of (a) neurological problems, such as stroke, movement disorders (other than dystonia in the patient groups), brain tumors, traumatic brain injury with loss of consciousness, ataxias, myopathies, myasthenia gravis, demyelinating diseases, alcoholism, drug depend-ence; (b) psychiatric problems, such as schizophrenia, major and/or bipolar depression, obsessive-compulsive disorder; (c) laryngeal problems, such as vocal fold paralysis, paresis, vocal fold nodules and polyps, carcinoma, chronic laryngitis.
Patients who are not symptomatic due to treatment with botulinum toxin injections into the laryngeal muscles. The duration of positive effects of botulinum toxin vary from patient to patient but lasts on average for 3-4 months. All patients will be evaluated to ensure that they are fully symptomatic prior to entering the study.
Patients with focal dystonia, thier unaffected blood relatives, and healthy volunteers
Cohort
Cross-sectional
MRI
Other interventionFunctional and structural MRI of the brain will be conducted to identify disorder specific neural markers
Blood draw
Procedure/SurgeryBlood samples will be collected, the DNA will be extracted and banked for genetic studies
Incidence of brain structural and functional changes
Identify changes in brain activity and gray and white matter in patients with dystonia vs. unaffected relatives vs. healthy controls
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Massachusetts Eye and Ear Infirmary
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
Collaborator
