To date, there is only limited knowledge about the distinct neural abnormalities that lead to the development of different forms of focal dystonia. The goal of this study is to dissect the pathophysiological mechanisms underlying this clinical phenomenon using multi-level brain network analysis in patients with focal dystonia.
Among the many causes of craniofacial disease are focal dystonias such as blepharospasm (BSP) and oromandibular dystonia (OMD), affecting the eyes and jaw, respectively, as well as Meige Syndrome, which combines features of both. Craniofacial dystonias are poorly understood and have limited treatment options. The investigators hypothesize that craniofacial dystonia (CFD) may be caused by both rare and common genetic variants. To identify neural correlates of different genetic causes of CFD, the investigators will perform structural and functional whole-brain imaging and examine the organization of the neural network in these patients compared to healthy individuals and their unaffected blood relatives.
Study Type
OBSERVATIONAL
Enrollment
141
Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
Blood samples will be collected, the DNA will be extracted and banked for genetic studies
Massachusetts Eye and Ear
Boston, Massachusetts, United States
RECRUITINGIncidence of brain structural and functional changes
Identify changes in brain activity and gray and white matter in patients with dystonia vs. unaffected relatives vs. healthy controls
Time frame: 5 years
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