Primary dystonia is a neurological movement disorder of unknown etiology and pathophysiology, which is characterized by sustained muscle contractions causing twisting and repetitive movements. Focal dystonias are the most common forms of primary dystonia and can be classified based on the affected muscle group (e.g., cervical dystonia, focal hand dystonia, spasmodic dysphonia, blepharospasm). Treatment of this disorder has been limited, to date, to symptom management, typically with botulinum toxin injections into the affected muscles.
Our long-term research goal is to identify the neural mechanisms underlying the pathophysiology of primary focal dystonia and develop new strategies for enhanced clinical management of this disorder, including its accurate diagnosis, prediction in persons at-risk, and discovery of novel therapeutic approaches. As a research tool for elucidation of brain organization in dystonia, our research group uses a variety of neuroimaging methodologies, such as functional MRI (fMRI) for mapping of brain functional activity and networks, high-resolution structural MRI and diffusion tensor MRI (DTI) for assessment of brain structural organization, and positron emission tomography (PET) with radiolabeled ligands(e.g., [11C]raclopride, [11C]flumazenil) for neuroreceptor mapping.
Furthermore, to enhance our understanding of interactions between etiological and pathophysiological factors contributing to the development of dystonia, we use a cross-disciplinary multi-modal approach of linking our neuroimaging findings with measures obtained through clinical and behavioral evaluations and genetic testing of patients with dystonia.
Our current studies are focused on studying spasmodic dysphonia (or laryngeal dystonia), one of the forms of primary focal dystonia, characterized by involuntary spasms in the laryngeal muscles, which selectively impair voluntary control of voice production during speaking but not during production of innate vocalizations, such as laughter and cry. Our studies are directed towards the identification of neural, genetic and environmental biomarkers of this disorder.
Further, to understand the relationship between different forms of primary focal dystonia, we investigate the extent of shared and distinct brain abnormalities between different forms of primary focal dystonia, such as focal hand dystonia (including writer’s cramp, musician’s dystonia), blepharospasm, cervical dystonia, and spasmodic dysphonia.
We also seek to determine the relationship between different neurological disorders that lead to impaired voice control, such as spasmodic dysphonia, vocal tremor and Parkinson’s disease.
Finally, through the understanding of brain mechanisms underlying voice and speech problems, we expect to gain in depth knowledge about the central control of learned voice motor control underlying for the development of a unique human ability to speak.
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