Dystonic syndromes

History Dystonia is defined as involuntary twisting and repetitive movement resulting in abnormal postures [1] due to sustained muscle co-contractions of agonist and antagonist muscles. The term “dystonia” embraces three different meanings: first, dystonia can be a physical sign; second, dystonia can be a syndrome of sustained muscle contractions; and third, dystonia may refer to a disease such as “idiopathic (or primary) dystonia” [2].Historically, one of the first descriptions of the condition may be that from 1901 by Destarac of a teenage girl with generalized dystonia affecting the neck, arm, pelvis muscles and feet. In 1908 Schwalbe described several patients and noted hereditability of dystonia. However, he also attributed a number of the physical features to being psychologically driven. Oppenheim coined the term “dystonia”. In 1919 Mendel described findings of a series of 33 cases and noted that many of the patients had a Jewish background. Much was written following this, documenting the details of the clinical manifestations, and the debate about its inheritance continued. It took until the 1990s for the first gene responsible for some cases of generalized torsion dystonia, then termed DYT1, to be successfully localized to chromosome 9 [3,4] and it could later be calculated that the mutation within the Ashkenazi Jewish population, where this DYT1-associated form of dystonia is 5- to 10-fold more common compared to non-Jewish populations, may have taken its origin some 350 years ago according to Risch et al. (see reference 27)