Dystonia Genotype-Phenotype Correlation

Summary

The purpose of this study is to (1) investigate the effect of known dystonia-causing mutations on brain structure and function, to (2) identify structural brain changes that differ between clinical phenotypes of dystonia, and to (3) collect DNA, detailed family history, and clinical phenotypes from patients with idiopathic dystonia with the goal of identifying new dystonia-related genes. Investigators will be recruiting both healthy control subjects and subjects with any form of dystonia. For this study there will be a maximum of two study visit involving a clinical assessment, collection of medical and family history, task training session, an MRI using the learned tasks, and finally a blood draw for genetic analysis. In total, these visits will take 3-5 hours. If the dystonia subjects receive botulinum toxin injections for treatment, the participants and their matched controls will be asked to come for a second visit.

Conditions

• Dystonia
• Dystonia; Idiopathic
• Dystonia, Primary
• Dystonia, Secondary
• Dystonia, Familial
• Dystonia Disorder
• Dystonias, Sporadic
• Dystonia; Orofacial
• Dystonia Lenticularis
• Dystonia, Paroxysmal
• Dystonia 6
• Dystonia 5
• Dystonia 8
• Dystonia 9
• Dystonia 19
• Dystonia 10
• Dystonia 11
• Dystonia 20
• Dystonia 12
• Dystonia, Focal
• Dystonia of Head
• Dystonia, Diurnal

Interventions

OTHER

Magnetic Resonance Imaging

Study interventions are minimal risk.

Sponsors & Collaborators

• Massachusetts General Hospital

  collaborator OTHER

• University of Texas Southwestern Medical Center

  lead OTHER

Eligibility

Min Age

11 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2018-03-01

Primary Completion

2027-09-30

Completion

2027-09-30

Countries

• United States

Study Locations