Abstract
Primary dystonia are movement disorders, genetically heterogeneous. The only gene identified for primary dystonia is the DYT1 gene (or TOR1A) implicated in generalized forms. Three loci have been implicated in focal dystonia but no genes have been identified. Many families excluded these known loci suggesting larger heterogeneity and existence of other genes. In this article, we will review the strategies useful for identifying disease gene in primary dystonia.