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Diagnosis and treatment are often delayed due to high between\u2010 and within\u2010group variability.\n <\/jats:p>\n <\/jats:sec>\n \n Objectives<\/jats:title>\n Comprehensively analyzed individual genotype, phenotype, treatment response, and biochemistry information.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n 734 DRD patients and 151 asymptomatic\n GCH1<\/jats:italic>\n mutation carriers were included using an MDSGene systematic literature review and an automated classification approach to distinguish between different forms of monogenic DRDs.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Whereas dystonia,\n L<\/jats:sc>\n \u2010Dopa responsiveness, early age at onset, and diurnal fluctuations were identified as red flags, parkinsonism without dystonia was rarely reported (11%) and combined with dystonia in only 18% of patients. While sex was equally distributed in autosomal recessive DRD, there was female predominance in autosomal dominant DYT\/PARK\u2010\n GCH1<\/jats:italic>\n patients accompanied by a lower median age at onset and more dystonia in females compared to males. Accordingly, the majority of asymptomatic heterozygous\n GCH1<\/jats:italic>\n mutation carriers (>8 years of age) were males. Multiple other subgroup\u2010specific characteristics were identified, showing high accuracy in the automated classification approach: Seizures and microcephaly were mostly seen in DYT\/PARK\u2010\n PTS<\/jats:italic>\n , autonomic symptoms appeared commonly in DYT\/PARK\u2010\n TH<\/jats:italic>\n and DYT\/PARK\u2010\n PTS<\/jats:italic>\n , and sleep disorders and oculogyric crises in DYT\/PARK\u2010\n SPR<\/jats:italic>\n . Biochemically, homovanillic acid and 5\u2010hydroxyindoleacetic acid in CSF were reduced in most DRDs, but neopterin and biopterin were increased only in DYT\/PARK\u2010\n PTS<\/jats:italic>\n and DYT\/PARK\u2010\n SPR<\/jats:italic>\n . Hyperphenylalaninemia was seen in DYT\/PARK\u2010\n PTS<\/jats:italic>\n , DYT\/PARK\u2010\n QDPR<\/jats:italic>\n , and rarely reported in autosomal recessive DYT\/PARK\u2010\n GCH1<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Our indicators will help to specify diagnosis and accelerate start of treatment. \u00a9 2021 The Authors.\n Movement Disorders<\/jats:italic>\n published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mds.28874","type":"journal-article","created":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T06:32:32Z","timestamp":1639549952000},"page":"237-252","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":75,"title":["Relationship of Genotype, Phenotype, and Treatment in Dopa\u2010Responsive Dystonia:\n MDSGene<\/scp>\n Review"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3569-6242","authenticated-orcid":false,"given":"Anne","family":"Weissbach","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"},{"name":"Institute of Systems Motor Science University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7794-0282","authenticated-orcid":false,"given":"Martje G.","family":"Pauly","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"},{"name":"Institute of Systems Motor Science University of L\u00fcbeck L\u00fcbeck Germany"},{"name":"Department of Neurology University Hospital Schleswig Holstein L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5906-5947","authenticated-orcid":false,"given":"Rebecca","family":"Herzog","sequence":"additional","affiliation":[{"name":"Institute of Systems Motor Science University of L\u00fcbeck L\u00fcbeck Germany"},{"name":"Department of Neurology University Hospital Schleswig Holstein L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Hahn","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"},{"name":"Institute of Systems Motor Science University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Halmans","sequence":"additional","affiliation":[{"name":"Institute of Systems Motor Science University of L\u00fcbeck L\u00fcbeck 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