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Segawa syndrome (OMIM: 605407) is an autosomal recessive and rare form of dopa-responsive dystonia (DRD) with a prevalence of 0.5 per million. It is associated with heterogeneous phenotypes, encompassing symptoms such as generalized dystonia, rigidity, tremors, infantile parkinsonism, pseudo-spastic paraplegia, and progressive infantile encephalopathy.