DYT2, Autosomal Recessive Generalized Dystonia

DYT2 refers to primary generalized dystonia inherited in an autosomal recessive fashion. To date, only a few families have been described in which this pattern of inheritance is suspected based solely on the appearance of the pedigree: affected offspring from unaffected and usually consanguineous parents. However, no locus has been identified yet, and history has demonstrated that even isolated sibling pairs have autosomal dominant dystonia with reduced penetrance. Further, the cases suggested as DYT2 in the literature most likely represent a heterogeneous group, some of which do not meet criteria for primary dystonia, that is, there are neurological signs in addition to dystonia and tremor.