SEGAWA SINROME (CLINICAL CASE)
Keywords:
Segawa syndrome, hereditary dystonia, dopamine responsive dystonia, torsion dostoniaAbstract
We examined a stationary patient who was admitted to the Department of Neurology 1 of ASMI Clinics with complaints of involuntary movements in the extremities, constriction in them, limitation of movements, involuntary turning of the neck and trunk in one direction. When prescribing levodopa drugs (madopar 125mg/day), in addition to the cyclodol (it was taken years ago) (4mg/day), noted that severity of motor symptoms significantly decreased on several days. Described features are specific in this syndrome. Segawa syndrome make it possible to distinquish it as an independent nasological unit and to correctly classify it as one of the diseases “dystonia-plus syndromes” at the moment.
References
Segawa M, Ohmi K, Itoh SA, Hayakawa H. Childhood basal ganglia disease with marked response to L-Dopa: hereditary progressive basal ganglia disease with marked diurnal fluctuation. Shinryo (Tokyo). 1971;24:667-672. (In Japanese).
Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. In: Advances in neurology. Eldridge R., Fahn S. (Eds.). New York: Raven Press; 1976. https://doi.org/10.1159/000425356
Allen N, Knopp W. Hereditary parkinsonism-dystonia with sustained control by L-DOPA and anticholinergic medication. Adv Neurol. 1976;14:201-213.
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.
Краснов М.Ю., Тимербаева С.Л., Иллариошкин С.Н. Генетика наследственных форм дистонии. Анналы неврологии. 2013;7:2. www.annaly-nevrologii.ru
Chaila EC, McCabe DJ, Delanty N, Costello DJ, Murphy RP. Broadening the phenotype of childhood-onset dopa-responsive dystonia. Arch Neurol. 2006;63(8):1185-1188. https://doi.org/10.1001/archneur.63.8.1185
Steinberger D, Korinthenberg R, Topka H, Berghauser M, Wedde R, Muller U. Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. Neurology. 2000;55:1735-1737. https://doi.org/10.1212/wnl.55.11.1735
