Neurol. praxi. 2021;22(6):525-528 | DOI: 10.36290/neu.2021.114

Segawa syndrome, dopa-responsive dystonia

MUDr. Michal Pavlovič1, doc. MUDr. Miriam Kolníková, PhD.1, MUDr. Ivana Paučinová2, MUDr. František Cisárik, CSc.2
1 Klinika detskej neurológie, NÚDCH, LF UK, Bratislava
2 Oddelenie lekárskej genetiky, FNsP Žilina

Segawa syndrome is an autosomal dominant type of dystonia, first described by Dr. Segawa in 1971. The onset of dystonia is usually in childhood, and is mostly misdiagnosed as cerebral palsy. Characteristics features include lower limb dystonia, young onset, worsening of the symptoms during the day and dramatic response to levodopa therapy. The disease is caused by a deficiency of GTP-cyclohydrolasis, and the diagnosis is established by genetical proof for GCH1 mutation. We would like to present a case-report of a 12-year-old girl, diagnosed with dopa-responsive dystonia, which has been initially misdiagnosed as cerebral palsy.

Keywords: dopa-responsive dystonia, Segawa syndrome, levodopa.

Published: December 9, 2021  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Pavlovič M, Kolníková M, Paučinová I, Cisárik F. Segawa syndrome, dopa-responsive dystonia. Neurol. praxi. 2021;22(6):525-528. doi: 10.36290/neu.2021.114.

Video 1

Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. Lee W, Jeon B, Kim R. Expanding The Spectrum Of Dopa-Responsive Dystonia (DRD) And Proposal For New Definition: DRD, DRD-Plus, And DRD Look-Alike [online]. J Korean Med Sci. 2018; 33(28): e184. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033101. Go to original source... Go to PubMed...
    2. Segawa M. Autosomal Dominant GTP Cyclohydrolase I (AD GCH 1) Deficiency (Segawa Disease, Dystonia 5; DYT 5) [online]. Chang Gung Med J. 2009; 32(1): 1-11. https://www.ncbi.nlm.nih.gov/pubmed/19292934. Go to PubMed...
    3. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation [online]. Brain Dev. 2011; 33: 195-201. https://pubmed.ncbi.nlm.nih.gov/21094587/. Go to original source... Go to PubMed...
    4. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Enso K, Tanaka H, Tsuji S. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene [online]. Nat Gen. 1994; 8: 236-242. https://www.nature.com/articles/ng1194-236. Go to original source... Go to PubMed...
    5. Oscar Bernal-Pacheco M. A Novel DYT-5 Mutation With Phenotypic Variability Within A Colombian Family [online]. Tremor Other Hyperkinet Mov (N Y). 2013; 3: tre-03-138-4462-2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822405/. Go to original source...
    6. Weng Y. Wang C. and Wu Y. Atypical Presentation Of Dopa-Responsive Dystonia In Taiwan [online]. Brain and Behavior. 2018; 8: e00906. https://www.researchgate.net/publication/322625810_Atypical_presentation_of_dopa-responsive_dystonia_in_Taiwan. Go to original source... Go to PubMed...
    7. Nomura Y, Hayashi M, Segawa M. Dopa-Responsive Dystonia Is Caused By Particular Impairment Of Nigrostriatal Dopamine Neurons Different From Those Involved In Parkinson Disease: Evidence Observed In Studies On Segawa Disease [online]. Neuropediatrics. 2013; 44(2). https://www.researchgate.net/publication/235882352_Dopa-Responsive_Dystonia_Is_Caused_by_Particular_Impairment_of_Nigrostriatal_Dopamine_Neurons_Different_from_Those_Involved_in_Parkinson_Disease_Evidence_Observed_in_Studies_on_Segawa_Disease. Go to original source... Go to PubMed...

    Return to the content


    Neurology for Practice

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.