Studying Brain and Genetic Links in Laryngeal Dystonia and Related Voice Disorders Using MRI and Genetic Testing

What this Trial Is About

Laryngeal dystonia LD, also known as spasmodic dysphonia, is a condition causing involuntary spasms in the muscles of the voice box that affect speech production. Researchers are investigating how genetic risk factors contribute to brain changes and different forms of LD, such as familial and sporadic types. This study aims to improve understanding of the connection between gene variations and brain abnormalities using advanced imaging, genetics, and clinical testing to help improve diagnosis and clinical management of LD and related voice disorders. Participants in this observational study include people with LD, voice tremor, muscle tension dysphonia, and unaffected relatives of LD patients. Each participant will undergo brain MRI scans and blood draws to collect DNA for genetic analysis. The study uses a cross-disciplinary approach combining imaging genetics and machine learning to identify neural and genetic markers that differentiate LD types, predict risk in relatives, and validate gene mutations linked to LD. During the study, researchers will assess brain changes and genetic data over a 5-year period. Participants will have imaging and blood samples collected for analysis along with clinical and behavioral testing. The main outcome measures are brain changes related to LD and the genes responsible for the disorder. This study aims to establish objective biomarkers for early detection, diagnosis, and risk assessment for LD and its related conditions.

Imaging Genetics of Laryngeal Dystonia