The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias
Purpose
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.
Condition
- Dystonia
Eligibility
- Eligible Ages
- Over 18 Years
- Eligible Genders
- All
- Accepts 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
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Other
- Time Perspective
- Other
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Cervical dystonia | People diagnosed with cervical dystonia | |
| Laryngeal dystonia | People diagnosed with laryngeal dystonia | |
| Other voice disorders | People diagnosed with a voice disorder other than laryngeal dystonia - enrollment for this group is complete | |
| Craniofacial dystonia | People diagnosed with craniofacial dystonia (including blepharospasm, meige syndrome, and oromandibular dystonia) | |
| Limb dystonia | People diagnosed with limb dystonia | |
| All other isolated dystonias | People diagnosed with any isolated dystonia not listed in descriptions of other cohorts | |
| Myoclonus dystonia | People diagnosed with myoclonus dystonia | |
| Dopa-responsive dystonia | People diagnosed with dopa-responsive dystonia |
More Details
- Status
- Completed
- Sponsor
- Emory University
Study Contact
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.