Dopa-Responsive Dystonia with Diurnal Fluctuation: A Case Report of an 18 Year Old Nigerian
Clinical Neurology and Neuroscience
Volume 2, Issue 2, June 2018, Pages: 23-26
Received: Oct. 25, 2017;
Accepted: Feb. 3, 2018;
Published: Jul. 4, 2018
Views 1231 Downloads 104
Olusegun Adesola Busari, Department of Medicine, College of Medicine and Health Sciences, Afe Babalola University, Ado-Ekiti, Nigeria
Paul Olowoyo, Department of Medicine, College of Medicine and Health Sciences, Afe Babalola University, Ado-Ekiti, Nigeria
Segun Oladele Adeniyi, Department of Medicine, Landmark University Medical Centre, Omu-Aran, Nigeria
Bidemi Olayemi Onipede, Department of Medicine, Landmark University Medical Centre, Omu-Aran, Nigeria
Olisa Joseph, Department of Medicine, Landmark University Medical Centre, Omu-Aran, Nigeria
Solomon Ogunniran, Department of Medicine, Landmark University Medical Centre, Omu-Aran, Nigeria
Dopa-responsive dystonia, also known as hereditary progressive dystonia with diurnal variation, is a genetic disease characterized by childhood or adolescent onset of dystonia and sometimes associated with parkinsonian features. This is a case report of an 18 year old Nigerian University undergraduate with features of difficulty in speaking, stiffness of the body, gait difficulties, coarse tremors and toe-walking. There was a very marked improvement of symptoms and signs within 24-48 hours of the commencement of SinemetTM (levodopa/ carbidopa) 125mg/12.5mg daily. The patient was discharged after 5 days with normal gait.
Olusegun Adesola Busari,
Segun Oladele Adeniyi,
Bidemi Olayemi Onipede,
Dopa-Responsive Dystonia with Diurnal Fluctuation: A Case Report of an 18 Year Old Nigerian, Clinical Neurology and Neuroscience.
Vol. 2, No. 2,
2018, pp. 23-26.
Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976; 14: 215–33.
Tassin J, Dürr A, Bonnet A, et al. Dopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations? Brain 2000; 123 (6)1112–21.
Nygaard TG, Marsden D, Fahn S. Dopa-responsive dystonia: Long-term treatment, response and prognosis: Neurology 1991; 41: 174-181.
Mittal R, Goraya JS, Basu S. Dopa-responsive dystonia. Indian Pediatrics 2001; 38: 1056-8.
Gordon N. Dopa-responsive dystonia: A widening spectrum. Dev Med Child Neurol 1996; 38: 554-9.
Boyd K, Patterson V. Dopa-responsive dystonia: A treatable condition misdiagnosed as cerebral palsy. Br Med J 1989; 298: 1019-20.
Talvik I, Segawa M, Veri K, et al. Cases of dopa-responsive dystonia (Segawa disease) in Estonia. Brain and Development 2010; 32 (5): 428-431.
Chen RS, Haung CC, Lu CS. Dopa-responsive dystonia: clinical and family study. Clin Neurol Neurosurg 1996; 98 (1): 43-6.
Nygaard TG. Dopa-responsive dystonia. Curr Opin Neurol 1995; 8(4): 310-3.
Maruta K, Okamoto S, Takegami T. A form of dopa-responsive dystonia of late onset with diurnal flunctuations. Rinsho Shinkeigaku 1993; 33(3): 341-3.
Nomura Y. The clinical characteristics of involuntary movements in childhood. No To Hattatsu 1997; 29(3): 199-205.
Ludecke B, Dworniczak B, Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa’s syndrome. Hum Genet 1995; 95(1): 123-5.
Nygaard TG, Wilheimsen KC, Risch NJ, et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet 1993; 5(4): 386-91.
Liu X, Zhang SS, Fang DF, et al. GCH1 mutation and clinical studies of Chinese patients with dopa-responsive dystonia. Arch Neurol 1998; 55(10): 1320-3.
Kim JI, Choi JK, Lee JW, et al. A novel missense mutation in GCH1 gene in a Korean family with Segawa disease. Brain Dev 2015; 37(3): 359-61.
Segawa M, Nomura Y, Kase M. Diurnal flunctuating hereditary progressive dystonia. Handbook of Clinical Neurology. Extrapyramidal Disorders. Elseviers: Amsterdam; 1986; 5: 529-539.
Deonna T, Roulet E, Ghika J, et al. Dopa-responsive childhood dystonia: a forme frusta with writer’s cramp, triggered by exercise. Dev Med Child Neurol 1997; 39(1): 49-53.
Nygaard TG, Waran SP, Levine RA, et al. Dopa-responsive dystonia simulating cerebral palsy. Paediatr Neurol 1994; 11(3): 236-40.
Furukawa Y, Kish SJ. Dopa-responsive dystonia: recent advances and remaining issues to be addressed. Mov Disord 1999; 14(5): 709-15.
Fujita S, Shintaku H. Etiology and pteridine metabolism abnormality of hereditary progressive dystonia with marked diurnal flunctuation (HPD: Segawa disease). Med J Kushiro City Hosp 1990; 2: 64-7.
Furukawa Y, Shimadzu M, Rajput AH, et al. GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia. Ann Neurol 1996; 39(5): 609-17.
Snow BJ, Okada A, Martin WRW. Positron emission tomography scanning in dopa-responsive dystonia, parkinsonism-dystonia and young–onset parkinsonism. Hereditary progressive dystonia with marked flunctuation, Carnforth, UK,. 1993.181-6.
Alongi P, Laccarino L, Perani D. PET Neuroimaging: Insights on dystonia and Tourette Syndrome and potential applications. Front Neurol 2014; 5: 183-6.
Asanuma K, Carbon-Correll M, Eidelberg D. Neuroimaging in human dystonia. J Med Invest 2005; 52(Suppl): 272-910.2152/jmi.52.272
Hwang WJ, Yao WJ, Wey SP, et al. Clinical and [99mTc] TRODAT-1/[1231[IBZM SPECT imaging findings in dopa-responsive dystonia. Eur Neurol 2004; 5(1): 26-9.
de la Fuente-Fernandez R. Drug induced motor complications in dopa-responsive dystonia: implications for pathogenesis of dyskinesias and motor flunctuations. Clin Neuropharmacol 1999; 22(4): 216-9.
Wang PJ, Ko YM, Young C, et al. Hereditary progressive dystonia with marked diurnal flunctuations (Segawa syndrome) in Taiwan. Brain Dev 1994; 16(2): 126-31.
Hwu WL, Wang PJ, Shen YZ. Hereditary progressive dystonia with marked diurnal variations: report of a case. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1989; 30(1): 46-51.
Gherpelli JL, Nagae LM, Diament A. DOPA-sensitive progressive dystonia of childhood with diurnal flunctuations of symptoms: a case report. Arq Neuropsiquiatr 1995; 53(2): 298-301.
Hsu KY, Kuo KN, Hsu RW. Correction of foot deformity by the llizarov method in a patient with Segawa disease. Clin Orthop Relat Res 1995; 3(314): 199-202.
Thony B, Calvo AC, Scherer T, et al. Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase. J Neurochem 2008; 106(2): 672-81.