DOPA RESPONSIVE DYSTONIA & DEPRESSION IN FAMILY

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The pupose of the study is to see if a mutation exists on the gene encoding for GTP Cycylohydrolase in members of a family and to correlate the genetic findings with the clinical manifestations, specifically dystonia and/or depression. This includes identifying alternative genetic mutations that may explain clinical findings of dystonia and depression if and when GTP cyclohydrolase is found normal. Moreover, this study aims to evaluate current treatment options and develop effective therapies that address not only the dystonic signs and symptoms but also other manifestations of the genetic disorder in this family including headaches, depression and incontinence.