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- Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother
- Wendi Wang, Baozhong Xin, Heng Wang
- J Mov Disord. 2020;13(2):150-153. Published online March 18, 2020
- DOI: https://doi.org/10.14802/jmd.19069
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Abstract
PDF - Dopa-responsive dystonia (DRD) is a complex genetic disorder with either autosomal dominant or autosomal recessive inheritance, with autosomal dominant being more frequent. Autosomal dominant DRD is known to be caused by mutations in the GCH1 gene, with incomplete penetrance frequently reported, particularly in males. Here, we report a male patient with DRD caused by exon 1 deletion in the GCH1 gene inherited from the asymptomatic mother. The patient had an atypical presentation, notably with no dystonia, and underwent extensive workup for a myriad of neuromuscular disorders before a low-dose L-dopa trial and confirmatory genetic testing were performed. Our experience with this family highlights an atypical presentation of DRD and prompts us to consider the genetic complexity of DRD.
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- Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavallaro
Biomedicines.2023; 11(7): 1899. CrossRef - Study on Mechanism of Cumulative Directional Blasting of Brittle Karst Limestone in the Guizhou Province
Jie Hu, Yiping Zhang, Chengcheng Fang, Yusong Miao, Xin Zhao, Dengguo Liu, José António Fonseca de Oliveira Correia
Advances in Materials Science and Engineering.2023; 2023: 1. CrossRef
- Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
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