Dopa-responsive dystonia presenting with predominant hemifacial dystonia
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Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically heterogeneous disorders that respond markedly well to l-DOPA . Most cases begin with dystonia in a lower extremity, which progresses to segmental or generalized dystonia . However, DRD is clinically and genetically heterogenous disorders, which often leads to misdiagnosis, which delays treatment. Here, we report a young woman with DRD presenting with subacute-onset hemifacial dystonia.
A 23-year-old woman was admitted to our hospital with a several-month history of right hemifacial dystonia. She had been born by a normal delivery and her development had been normal. There was no family history of movement disorders. Initially, facial dystonia began in the morning and lasted for short periods (several minutes). No diurnal fluctuations were observed. Over several months, the duration of the dystonia lengthened progressively and eventually continued throughout the day. The patient’s...
KeywordsDystonia Pramipexole Entacapone Carbidopa Focal Dystonia
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Conflict of interest
The authors have no conflicts of interest or financial support to report.
The institutional review board at Ajou Hospital approved this case report.
The patients have consented to the submission of the case report to the journal.
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- 1.Opladen T, Hoffmann G, Horster F, Hinz AB, Neidhardt K, Klein C, Wolf N (2011) Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. Mov Disord Off J Mov Disord Soc 26:157–161CrossRefGoogle Scholar
- 6.Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, San C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A (2009) Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain J Neurol 132:1753–1763CrossRefGoogle Scholar