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DYT5 dystonia (Segawa disease) is an autosomal-dominant inherited progressive dystonia that is evoked by mutations/deletions of the GTP cyclohydrolase 1 (GCH1) gene,1–3 which codes for the rate-limiting enzyme of tetrahydrobiopterin (BH4) synthesis. Segawa disease is a rare disorder with an estimated prevalence of 0.5 per million. We report a clinical course caused by a novel mutation of the GCH1 gene in a 25-year-old Caucasian female presenting in our outpatient clinic. The patient was born to healthy parents with no history or signs of neurological diseases. She described the development of a gait disturbance beginning at the age of …
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