Dystonia
Conditions
Keywords
Observational study, Cross-sectional and Prospective study, Cohort and case-control study
Brief summary
Dystonia is a disorder characterized by excessive involuntary contraction of muscles with repetitive and patterned movements. The isolated dystonias are the most common type of dystonia and include Limb dystonias (like writer's cramp), Cervical dystonia (spasmodic torticollis), Laryngeal dystonias (like spasmodic dysphonia), and Craniofacial dystonias (like blepharospasm). The purpose of this study is to create resources to help learn more about the isolated dystonias, myoclonus dystonia, and dopa-responsive dystonia and to develop and validate various dystonia rating scales.
Detailed description
This collaborative, international effort has one primary goal. This is to create a biospecimen repository and associated clinical database to be used as a resource for dystonia and related disease research. Across sites, the investigators hope to enroll at least 5,000 adult patients. Subjects of this study will be asked to complete a neurological exam which will be video recorded, complete some questionnaires, and donate a blood sample. A study visit will take between 45 minutes and 1 hour. All subjects will be asked to return every 1, 2, 3, or 4 years for a one hour follow-up visit. People may participate in this study without agreeing to participate in the follow-up visits.
Interventions
None listed
Sponsors
National Institute of Neurological Disorders and Stroke (NINDS)
Office of Rare Diseases (ORD)
Allergan
Dystonia Study Group
Emory University
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Diagnosed with isolated dystonia or myoclonus dystonia or dopa-responsive dystonia * To be included in laryngeal dystonia group, nasolaryngoscopy (voice box exam) must have been completed to confirm diagnosis (this voice box exam is not part of the study)
Exclusion criteria
* Any evidence of a secondary cause for dystonia (other than myoclonus dystonia or dopa-responsive dystonia) * Less than 2 months since last botulinum toxin injection * Inability to provide informed consent * Significant medical or neurological conditions that preclude completing the neurological exam * Significant physical or other condition that would confound diagnosis or evaluation, other than dystonia or tremor
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Observational | 7 years | There is no primary outcome measure as this is an observational study. |
Countries
Australia, Canada, France, Germany, Italy, United Kingdom, United States
Outcome results
None listed