دورية أكاديمية
A case report of dopa-responsive dystonia in a young woman
| العنوان: | A case report of dopa-responsive dystonia in a young woman |
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| المؤلفون: | Belykh, N. A., Akhkyamova, M. A., Gusev, V. V., Lvova, O. A. |
| المصدر: | Bulletin of Russian State Medical University |
| بيانات النشر: | Pirogov Russian National Research Medical University |
| سنة النشر: | 2020 |
| المجموعة: | Ural Federal University (URFU): ELAR / Уральский федеральный университет: электронный архив УрФУ |
| مصطلحات موضوعية: | DOPA-RESPONSIVE DYSTONIA, HEREDITARY DYSTONIA, SEGAWA SYNDROME, BACLOFEN, CARBIDOPA, CHOLINESTERASE INHIBITOR, DOPAMINE, LEVODOPA, LIVER PROTECTIVE AGENT, MULTIVITAMIN, PARAFFIN, TIZANIDINE, VASODILATOR AGENT, ADULT, ARM WEAKNESS, ARTICLE, BRAIN ATROPHY, CASE REPORT, CLINICAL ARTICLE, CLINICAL FEATURE, CUBITAL TUNNEL SYNDROME, DISABILITY, DOPA RESPONSIVE DYSTONIA, DRUG WITHDRAWAL, ELECTRONEUROGRAPHY, ENCEPHALOPOLYRADICULONEUROPATHY, EXERCISE, FEMALE, FOOT, GAIT DISORDER |
| الوصف: | 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. © 2020 Pirogov Russian National Research Medical University. All rights reserved. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2500-1094 |
| العلاقة: | A case report of dopa-responsive dystonia in a young woman / N. A. Belykh, M. A. Akhkyamova, V. V. Gusev, O. A. Lvova. — DOI 10.24075/brsmu.2020.031 // Bulletin of Russian State Medical University. — 2020. — Vol. 3. — P. 45-48.; https://vestnikrgmu.ru/files/issues/vestnik.rsmu.press/2020/3/2020-3-8_en.pdf?lang=enTest; e2b2197f-0d1b-491f-aa5f-e779fffdacd5; http://www.scopus.com/inward/record.url?partnerID=8YFLogxK&scp=85089958258Test; http://elar.urfu.ru/handle/10995/90227Test; 85089958258; 000549104300008 |
| DOI: | 10.24075/brsmu.2020.031 |
| الإتاحة: | https://doi.org/10.24075/brsmu.2020.031Test http://elar.urfu.ru/handle/10995/90227Test https://vestnikrgmu.ru/files/issues/vestnik.rsmu.press/2020/3/2020-3-8_en.pdf?lang=enTest http://www.scopus.com/inward/record.url?partnerID=8YFLogxK&scp=85089958258Test |
| حقوق: | info:eu-repo/semantics/openAccess ; cc-by |
| رقم الانضمام: | edsbas.2389D71C |
| قاعدة البيانات: | BASE |
| تدمد: | 25001094 |
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| DOI: | 10.24075/brsmu.2020.031 |