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Recently non motor clinical findings in dystonias, new highlights in the pathophysiology of the disease, and the availability of high throughput genome wide techniques are proving useful tools to better understand the complexity of PTD genetics. We briefly review the genetic basis of the most common forms of hereditary PTDs, and discuss relevant issues related to molecular diagnosis and genetic counseling. Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary muscle contractions, resulting in twisting and repetitive movements and abnormal postures Fahn, 1988. Although the diagnosis is mainly clinical Albanese and Lalli, 2012, the current classification is based on etiology, distinguishing primary torsion dystonias PTDs, dystonia plus syndromes, heredodegenerative disorders and secondary dystonias Bressman, 2004. With the exclusion of secondary forms which are related to acquired causes, dystonic syndromes have a genetic basis. Several genes and loci have been identified named with the conventional DYT symbol followed by progressive numbers see Table 1, yet a genetic diagnosis remains elusive in the majority of patients.

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