DOPA RESPONSIVE DYSTONIA & DEPRESSION IN FAMILY

本研究的目的是了解一个家族成员中编码GTP环水解酶的基因是否存在突变，并将遗传学发现与临床表现，特别是肌张力障碍和/或抑郁症相关联。 这包括确定替代基因突变，可能解释肌张力障碍和抑郁症的临床表现，如果和当GTP环化水解酶被发现正常。 此外，这项研究旨在评估目前的治疗方案，并开发有效的治疗方法，不仅解决肌张力障碍的体征和症状，还解决该家族遗传性疾病的其他表现，包括头痛，抑郁和失禁。

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.