Dopa-responsive dystonia (Segawa syndrome)

被引：0
|
作者：
Kamal, Neel [1 ]
Bhat, Deepti Pagare [1 ]
Carrick, Emma [1 ]
机构：
[1] Childrens Ctr, Hull & E Riding Community Hlth NHS Trust, Kingston Upon Hull HU3 2HE, N Humberside, England
来源：
INDIAN PEDIATRICS | 2006年 / 43卷 / 07期
关键词：
cerebral palsy; dystonia; Segawa syndrome;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
A 12-year-old boy with gradually worsening global developmental delay was diagnosed and managed as quadriplegic cerebral palsy since childhood. Subsequent evaluation revealed marked dystonia over spasticity leading to suspicion of Segawa syndrome. Dramatic improvement in clinical condition followed after therapy with low dose L-Dopa.
引用
收藏
页码：635 / 638
页数：4
相关论文
共 50 条
  • [21] Dopa-responsive dystonia (Segawa disease)-like disease accompanied by mental retardation: A case report
    Nagata, Eiichiro
    Kosakai, Arifumi
    Tanaka, Kortaro
    Segawa, Masaya
    Fujioka, Hiroki
    Suzuki, Norihiro
    MOVEMENT DISORDERS, 2007, 22 (08) : 1202 - 1203
  • [22] Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family
    Souza, C. P.
    Valadares, E. R.
    Trindade, A. L. C.
    Rocha, V. L.
    Oliveira, L. R.
    Godard, A. L. B.
    GENETICS AND MOLECULAR RESEARCH, 2008, 7 (03) : 687 - 694
  • [23] The metabolic pathology of dopa-responsive dystonia
    Asanuma, K
    Ma, YL
    Huang, CR
    Carbon-Correll, M
    Edwards, C
    Raymond, D
    Bressman, SB
    Moeller, JR
    Eidelberg, D
    ANNALS OF NEUROLOGY, 2005, 57 (04) : 596 - 600
  • [24] Dopa-responsive dystonia in monozygotic twins
    Groetzsch, H
    Morris, M
    Schnorf, H
    Horvath, J
    Burkhard, PR
    MOVEMENT DISORDERS, 2002, 17 : S283 - S283
  • [25] Molecular mechanism of dopa-responsive dystonia
    Ichinose, H
    Nagatsu, T
    CHEMISTRY AND BIOLOGY OF PTERIDINES AND FOLATES 1997, 1997, : 727 - 731
  • [26] Diagnosis of dopa-responsive dystonia in children
    Bobylova, M. Yu.
    Mikhailova, S. V.
    Fedonuk, I. D.
    Ilina, E. S.
    Grinio, L. P.
    EUROPEAN JOURNAL OF NEUROLOGY, 2007, 14 : 198 - 198
  • [27] Familial dopa-responsive cervical dystonia
    Schneider, SA
    Mohire, MD
    Trender-Gerhard, I
    Asmus, F
    Sweeney, M
    Davis, M
    Gasser, T
    Wood, NW
    Bhatia, KP
    NEUROLOGY, 2006, 66 (04) : 599 - 601
  • [28] Transcranial sonography in dopa-responsive dystonia
    Svetel, M.
    Tomic, A.
    Mijajlovic, M.
    Dobricic, V.
    Novakovic, I.
    Pekmezovic, T.
    Brajkovic, L.
    Kostic, V. S.
    EUROPEAN JOURNAL OF NEUROLOGY, 2017, 24 (01) : 161 - 166
  • [29] Coexistent dopa-responsive dystonia and tics
    Raymond, D
    Saunders-Pullman, RJ
    Blau, N
    Hyland, K
    Bressman, SB
    NEUROLOGY, 2000, 54 (07) : A118 - A118
  • [30] Molecular genetics of dopa-responsive dystonia
    Ichinose, H
    Suzuki, T
    Inagaki, H
    Ohye, T
    Nagatsu, T
    BIOLOGICAL CHEMISTRY, 1999, 380 (12) : 1355 - 1364
12345