ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
CLINICAL CASE
A case report of DOPA-responsive dystonia in a young woman
About authors
1 Central Clinical Hospital № 23, Yekaterinburg, Russia
2 Ural State Medical University, Yekaterinburg, Russia
3 Yeltsin Ural Federal University, Yekaterinburg, Russia
Correspondence should be addressed: Nikita А. Belykh
Repina, 3, Yekaterinburg, 620014; moc.liamg@hkilebatikin
About paper
Compliance with ethical standards: the study was approved by the Ethics Committee of Ural State Medical University (Protocol № 1451/19 dated September 20, 2019). The patient gave informed consent to participate in the study.
Author contribution: Belykh NA analyzed the literature, made the differential diagnosis, participated in establishing the definitive diagnoses followed the patient up for 3 years. Akhkyamova MA examined the patient, collected her medical history, participated in establishing the diagnosis, followed the patient up for 3 years, wrote the manuscript. Gusev VV followed the patient up; ordered diagnostic tests, prescribed treatment and monitored its course; provided the patient’s medical history; helped with the application to the Ethics Committee. Lvova OA advised the patient on the genetic test and interpreted its results.
Received: 2020-05-14
Accepted: 2020-05-28
Published online: 2020-06-05
|
Dopa-responsive dystonia (DRD) is a rare progressive genetically heterogenous disorder with pediatric onset. DRD is 3 times as prevalent in women than in men. This article reports a clinical case of DRD in a young female presenting with paraparesis, foot dystonia (more pronounced in the right foot) and pronounced walking impairment, who was admitted for emergency treatment to a Neurology Unit. Based on the additional tests, which included a levodopa trial and Sanger sequencing, the patient was diagnosed with DRD. Levodopa caused a considerable improvement of the symptoms. The article describes the clinical features of the disease, talks about its differential diagnosis, genetic predisposition and treatment strategy.
Keywords: DOPA-responsive dystonia, Segawa syndrome, hereditary dystonia