Recruitment

Recruitment Status
Recruiting
Estimated Enrollment
Same as current

Summary

Conditions
  • Dystonia 8
  • Dystonia
  • Dystonia 10
  • Dystonia 11
  • Dystonia 12
  • Dystonia 19
  • Dystonia 20
  • Dystonia, Focal
  • Dystonia of Head
  • Dystonia, Familial
  • Dystonia, Secondary
  • Dystonia 5
  • Dystonia 6
  • Dystonia 9
  • Dystonia; Orofacial
  • Dystonia Disorder
  • Dystonia, Paroxysmal
  • Dystonia; Idiopathic
  • Dystonia, Primary
  • Dystonia, Diurnal
  • Dystonias, Sporadic
  • Dystonia Lenticularis
Type
Observational
Design
Observational Model: CohortTime Perspective: Prospective

Participation Requirements

Age
Between 11 years and 125 years
Gender
Both males and females

Description

Identify a cohort of individuals with known dystonia-related gene mutations, and individuals with idiopathic but presumed-genetic dystonia. Some of these individuals may receive botulinum toxin injections to treat their dystonia per standard of care; in these patients, investigators will image befor...

Identify a cohort of individuals with known dystonia-related gene mutations, and individuals with idiopathic but presumed-genetic dystonia. Some of these individuals may receive botulinum toxin injections to treat their dystonia per standard of care; in these patients, investigators will image before and after injections to assess for imaging correlates of treatment response. Analyze DNA samples from both the dystonia and healthy individual cohorts to detect the presence of mutations and/or polymorphisms in genes associated with dystonia Collect systematic clinical information, including Tsui Torticollis, Burke-Fahn-Marsden, Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), Voice Disability Index, Unified Myoclonus Rating Scale, Beck Depression Inventory, Beck Anxiety Inventory and Spielberg Trait Anxiety scales. Scales will be tailored to the type of dystonia, as determined by the clinician referring into the study (i.e., torticollis scales will only be performed on patients with cervical dystonia). Use functional MRI (fMRI), diffusion tensor imaging (DTI), and structural MRI to a) analyze brain activity and structure pre- and post-botulinum toxin injections, b) determine how different stages of movement (execution, preparation, sequencing) influence dystonia and the underlying neural mechanisms, c) identify structural abnormalities shared between clinical sub-types of dystonia. As new MR imaging methods are introduced that may improve the investigators ability to identify or distinguish these abnormalities, the investigator will incorporate these novel sequences into the imaging protocol. Correlate brain activity and structural data with ratings of dystonia severity, location of dystonia, genetic status, and response to treatment (medications and/or botulinum toxin injections). Correlate polymorphism data with dystonia severity, response to botulinum toxin, depression/anxiety severity, and brain activity/structure.

Tracking Information

NCT #
NCT03428009
Collaborators
Massachusetts General Hospital
Investigators
Not Provided