J Genet Med.  2020 Jun;17(1):34-38. 10.5734/JGM.2020.17.1.34.

Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics

  • 1Department of Neurology, Nowon Eulji Medical Center, Eulji University, Seoul, Korea
  • 2Department of Laboratory Medicine, GC Genome, Yongin, Korea
  • 3Department of Pediatrics, Nowon Eulji Medical Center, Eulji University, Seoul, Korea


The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa treatment. Autosomal dominant DRD (DYT5a, MIM# 128230) is caused by a heterozygous mutation in the GTP cyclohydrolase 1 (GCH1) gene (MIM# 600225). GCH1 encodes an enzyme, which is involved in the biosynthesis of tetrahydrobiopterin, an essential co-factor for tyrosine hydroxylase. Herein, we report the case of a 16-year-old girl who was diagnosed with DYT5a. She exhibited additional unusual clinical features, including intellectual disability, depression, multiple skeletal anomalies, and short stature, which are not commonly observed in patients with DYT5a. The patient harbored a heterozygous missense variant, c.539A>C, p.Gln180Pro, in the GCH1 gene, which was identified by targeted gene panel analysis using next-generation sequencing.


Dystonia; Dopa-responsive; Autosomal dominant; GCH1; Intellectual disability; Depression
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