Blepharospasm Oromandibular Dystonia, Craniofacial Dystonia, Musician's Focal Hand Dystonia, Singer's Dystonia, Spasmodic Dysphonia, Writer's Cramp
Conditions
Keywords
dystonia, imaging, genetics
Brief summary
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.
Detailed description
Among the many causes of craniofacial disease are focal dystonias such as blepharospasm (BSP) and oromandibular dystonia (OMD), affecting the eyes and jaw, respectively, as well as Meige Syndrome, which combines features of both. Craniofacial dystonias are poorly understood and have limited treatment options. The investigators hypothesize that craniofacial dystonia (CFD) may be caused by both rare and common genetic variants. To identify neural correlates of different genetic causes of CFD, the investigators will perform structural and functional whole-brain imaging and examine the organization of the neural network in these patients compared to healthy individuals and their unaffected blood relatives.
Interventions
OTHERMRI
Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
PROCEDUREBlood draw
Blood samples will be collected, the DNA will be extracted and banked for genetic studies
Sponsors
National Institute of Dental and Craniofacial Research (NIDCR)
Massachusetts Eye and Ear Infirmary
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
21 Years to 80 Years
Healthy volunteers
Yes
Inclusion criteria
* 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. * Native English speakers. * Right-handedness (based on Edinburgh Handedness Inventory).
Exclusion criteria
* 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 other forms of dystonia. * Patients who have dystonia symptoms at rest in order to avoid the potential confound of dystonic spasms occurring during the scanning. * To avoid the possibility of confounding effects of drugs acting upon the central nervous system, all study participants will be questioned about any prescribed or over-the-counter medications as part of their initial intake screening. Those patients who receive medication(s) affecting the central nervous system will be excluded from the study. * The patients will be asked whether they have undergone any head, neck, or hand surgeries, which resulted in changes in regional anatomy or innervation. Because brain, hand and laryngeal surgery may potentially lead to the brain structure and function re-organization, all patients with history of brain, hand and/or laryngeal surgery will be excluded from the study. * Subjects who have tattoos, ferromagnetic objects in their bodies (e.g., implanted stimulators, surgical clips, prosthesis, artificial heart valve, etc.) that cannot be removed for the purpose of study participation.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Incidence of brain structural and functional changes | 5 years | Identify changes in brain activity and gray and white matter in patients with dystonia vs. unaffected relatives vs. healthy controls |
Countries
United States
Contacts
Primary ContactKristina Simonyan, MD, PhD
Outcome results
None listed