Lingual-Facial-Buccal Dyskinesia

Lingual-Facial-Buccal Dyskinesia, also known as orofacial dyskinesia, is related to episodic ataxia and hemidystonia, and has symptoms including spasmodic torticollis An important gene associated with Lingual-Facial-Buccal Dyskinesia is VPS13A (Vacuolar Protein Sorting 13 Homolog A), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Monoamine GPCRs. The drugs Aripiprazole and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include subthalamic nucleus and lung, and related phenotypes are nervous system and homeostasis/metabolism