Rare disease, twin girl with Dopa Responsive Dystonia suspicious Segawa disease in Indonesia

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Rare disease, twin girl with Dopa Responsive Dystonia suspicious Segawa disease in Indonesia

Authors

  • Nur Hanifah Department of Child Health, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia, and Department of Child Health, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia https://orcid.org/0009-0008-2109-1219
  • Prastiya Indra Gunawan Department of Child Health, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia, and Department of Child Health, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia https://orcid.org/0000-0003-3199-2826
  • Riza Noviandi Department of Child Health, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia, and Department of Child Health, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia https://orcid.org/0000-0002-8266-3099
  • Sunny Mariana Samosir Department of Child Health, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia, and Department of Child Health, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia https://orcid.org/0000-0003-3584-6156

Keywords:

dopa-responsive dystonia, segawa disease, DRD, levodopa

Abstract

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References

Nygaard G, Szigetvari PD, Grindheim AK, et al. Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia-A Focus on Tyrosine Hydroxylase Deficiency. J Pers Med. 2021 Nov 12;11(11):1186. doi: 10.3390/jpm11111186.

Lee WW, Jeon B, Kim R. Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike. J Korean Med Sci. 2018 May 24;33(28):e184. doi: 10.3346/jkms.2018.33.e184.

Gorodetsky C, Fasano A. Approach to the Treatment of Pediatric Dystonia. Dystonia. 2022;1:10287. doi: 10.3389/dyst.2022.10287.

Segawa M. Hereditary Progressive Dystonia with Marked Diurnal Fluctuation. Brain Dev. 2011;33:195–201. doi: 10.1016/j.braindev.2010.10.015.

Gunawan PI, Saharso D. Reducing Severe Spasticity in Cerebral Palsy Following Meningoencephalitis by Botulinum Toxin. Med J Indones. 2017;26:1. doi: 10.13181/mji.v26i1.1297.

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1.
Hanifah N, Gunawan PI, Noviandi R, Samosir SM. Rare disease, twin girl with Dopa Responsive Dystonia suspicious Segawa disease in Indonesia. Acta Biomed. 95(6):e2024178. doi:10.23750/abm.v96i2.16345

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How to Cite

1.
Hanifah N, Gunawan PI, Noviandi R, Samosir SM. Rare disease, twin girl with Dopa Responsive Dystonia suspicious Segawa disease in Indonesia. Acta Biomed. 95(6):e2024178. doi:10.23750/abm.v96i2.16345