What we are studying

We are studying dystonia that affects the muscles of the face. Dystonia is the uncontrolled contraction of muscles, that result in abnormal movements. When dystonia affects the muscles of the face and/or jaw, it is referred to as cranofacial dystonia. Craniofacial dystonia includes uncontrolled eye lid closure (blepharospasm), uncontrolled jaw opening or closing (oromandibular dystonia), tongue dystonia or any combination of these symptoms (Meige Syndrome). 

Craniofacial dystonia is poorly understood. While most cases of craniofacial dystonia are not inherited, we think a combination of the genes that one inherits and the way that the brain sends signals to the facial muscles contribute to the development of craniofacial dystonia. We hope to use DNA analysis to better understand how people develop craniofacial dystonia. 

Why it is important

Craniofacial dystonia results in substantial disability in those who are affected. One's ability to drive, speak and eat may be impaired. Currently, treatment options are limited. It is important to better understand the causes of craniofacial dystonia to develop targeted treatment. 

What we hope to accomplish

We will collect a detailed family and medical history, conduct a limited neurologic exam and obtain DNA from all consenting participants.  We will analyze the DNA to identify genes that may be contributing to the development of craniofacial dystonia.