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ID03042962

Study of Brain Networks and Genetic Factors in Adults with Focal Dystonia Using MRI and Blood Analysis

Led by Massachusetts Eye and Ear Infirmary · Updated on 2025-12-08

141

Participants Needed

1

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Researchers are investigating the underlying brain network changes in patients with focal dystonia, a condition affecting specific muscles such as those controlling the eyes and jaw, including blepharospasm, oromandibular dystonia, and Meige Syndrome. The study aims to understand the neural and genetic factors contributing to these craniofacial dystonias by comparing affected patients, their unaffected blood relatives, and healthy volunteers. This research addresses the limited knowledge and treatment options for these conditions by exploring structural and functional brain differences. Participants include patients with focal dystonia, their unaffected blood relatives, and healthy adults without neurological or psychiatric conditions. All participants will undergo brain imaging using functional and structural MRI to identify disorder-specific neural markers. Blood samples will be collected for genetic analysis. These procedures will help researchers examine brain network organization and genetic variants possibly linked to craniofacial dystonia. During the study, participants will have MRI scans and blood draws. Researchers will assess brain structural and functional changes over a five-year period. The study includes adults aged 21 to 80 who are right-handed native English speakers. Safety is ensured by excluding individuals with certain medical histories or conditions. The goal is to measure neural abnormalities associated with dystonia and understand their development. Participation may last several years due to the long-term outcome tracking.

CONDITIONS

Brief Title

Brain Networks in Dystonia

Research Team

K

Kristina Simonyan, MD, PhD

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