Dopa-responsive Dystonia
case report
DOI:
https://doi.org/10.34024/rnc.2011.v19.8417Keywords:
Dystonia, Levodopa, Movement DisordersAbstract
Introduction. Dopa-Responsive Dystonia (DRD), also known as Segawa’s syndrome, is clinically characterized by an excellent response to treatment with low doses of levodopa and caused by mutation of the GCH 1 gene. Case Report. A 31-year-oldfemale, presented neurological symptoms at 10 years of age, with abnormal posture and difficulty in gait. Was diagnosed and managed as congenital scoliosis. Subsequent evaluation revealed progressive symptoms with diurnal fluctuations leading to suspicion of DRD. All image diagnosis and laboratory test were normal. Levodopa response, with lower doses (60 mg/day), was excellent. Conclusions. DRD shows excellent response to administration of low doses of levo-dopa, with dramatic clinical improvement and normalization of the neurological condition that are maintained for long periods.
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References
Pascual-Pascual S. Estudo y tratamiento de las distonías em la infancia. Rev Neurol. 2006;43(Supl 1):S161-8.
Segawa M, Ohmi K, Ito S, Aoyama M, Hayakawa H. Childhood basal ganglion disease with remarcable response to L-dopa: hereditary basal ganglia disease with marked diurnal fluctuation. Shinryo. 1971;24:667-72.
Mulas F. Distonía curable com tratamiento com L-dopa. Rev Neurol. 1999;28(Supl 2):S195-6.
Rolon M, Yalj S, Alabart N, Menzano E. Distonía sensible a L-Dopa: enfermedad de Segawa. Arch. Argent. Pediatr. 2007;105:542-4.
Navas L, Vásquez A, Gudino M, Vásquez B. Distonía de Segawa: a propósito de un caso. Archivos Venezolanos de Puericultura y Pediatría 2003;66:33-5.
Scola R, Carducci C, Amaral V, Lorenzoni P, Teive H, Giovanniello T, et al. A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia. Arq Neuropsiquiatr. 2007;65:1224-7.
Mendes M, Tilbery C, Balsimelli S, Felipe E, Moreira M, Cruz A. Fadiga na forma remitente da Esclerose Múltipla. Arq. Neuro-Psiquiatr.2000;58:471-5.
Riberto M, Miyazaki M, Filho D, Sakamoto H, Battistella L. Reprodutibilidade da versão brasileira da Medida de Independência Funcional. Acta Fisiátrica. 2001;8:45-52.
Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol. 2003;54(Suppl 6):S32-45.
García-Cazorla A, Ormazábal A, Artuch R, Pérez-Dueñas B, LópezCasas J, Fernández-Álvarez E, et al. Errores congénitos de los neurotransmissores em Neuropediatría. Rev Neurol. 2005;41:99-108.
Mittal R, Goraya J, Basu S. Dopa-responsive dystonia. Indian Pediatrics. 2001;38:1056-8.
Furuya H, Murai H, Takasugi K, Ohyagi Y, Urano F, Kishi T, et al. A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene. Clin Neurol Neurosurg. 2006;108:784-86.
Nutt J, Nygaard T. Response to Levodopa Treatment in Dopa-Responsive Dystonia. Arch Neurol. 2001;58:905 10.
Aloe F, Azevedo A, Hasan R. Mecanismos de ciclo sono-vigília. Rev Bras Psiquiatr. 2005;27(Supl I):33-9.
Sawle G. Movement disorders in clinical practice. Oxford: Isis Medical Media; 1999.
Nikhar N, Mani H. Dopamine responsive dystonia. Emedicine [Internet]. 2009 Jul [citado 2010 Nov 01]. Disponível em: http://emedicine.medscape.com/article/1181084-print
Segawa M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa Disease, Dystonia 5; DYT 5). Chang Gung Med J. 2009;32:1-11.
Gherpelli J, Nagae L, Diament A. DOPA-sensitive progressive dystonia of childhood with diurnal fluctuations of symptoms: a case report. Arq Neuropsiquiatr. 1995;53:298-301.
Hsu K, Chien Y, Hsu W, Wang K. Successful treatment of hereditary progressive dystonia: a case report. Changgeng. 1994;17:364-70.
Souza C, Valadares E, Trindade A, Rocha V, Oliveira L, Godard A. Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family. Genetics and Molecular Research. 2008;7:687-94.
Grippo J, Fuente A, Corral M, Grippo T. Distonía hereditaria sensible a levodopa: síndrome de Segawa. Rev Neurol. 2002;34:933-6.
