The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias

Study Overview
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Brief Summary
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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
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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.

Official Title
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Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia

Conditions
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Dystonia

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Cervical dystonia<br>People diagnosed with cervical dystonia | |
| Laryngeal dystonia<br>People diagnosed with laryngeal dystonia | |
| Other voice disorders<br>People diagnosed with a voice disorder other than laryngeal dystonia - enrollment for this group is complete | |
| Craniofacial dystonia<br>People diagnosed with craniofacial dystonia (including blepharospasm, meige syndrome, and oromandibular dystonia) | |
| Limb dystonia<br>People diagnosed with limb dystonia | |
| All other isolated dystonias<br>People diagnosed with any isolated dystonia not listed in descriptions of other cohorts | |
| Myoclonus dystonia<br>People diagnosed with myoclonus dystonia | |
| Dopa-responsive dystonia<br>People diagnosed with dopa-responsive dystonia | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Observational | There is no primary outcome measure as this is an observational study. | 7 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Observational study, Cross-sectional and Prospective study, Cohort and case-control study