Clinical case of autosomo-dominant Dopa-responsive torsion dystonia
https://doi.org/10.25694/URMJ.2018.11.20
Abstract
The article describes a clinical case of an autosomal dominant dopa-responsive torsion dystonia, analyzes the pedigree, differentiate the features of the debut of the disease in the family. Also the neurological status described of a particular patient and the results of therapy with preparations of levodopa and the method of biological feedback (BFB).
About the Authors
P. G. Kostromina
ФГБОУ ВО «Уральский государственный медицинский университет» Минздрава России
Russian Federation
Russian Federation
O. V. Koryakina
ФГБОУ ВО «Уральский государственный медицинский университет» Минздрава России
Russian Federation
Russian Federation
O. V. Ovsova
ФГБОУ ВО «Уральский государственный медицинский университет» Минздрава России
Russian Federation
Russian Federation
K. S. Salomatov
ГАУЗ СО «Областная детская клиническая больница»
Russian Federation
Russian Federation
References
1. Bressman S.B. Dystonia genotypes, phenotypes and classification. Adv. Neurol. 2004; 94: 101-7.
2. Albanese A. Update on dystonia. Teaching course 1.2. 10th Congress of the European Federation of Neurological Societies, Glasgow Sept 2-5, 2006; 1-17.
3. Каmm C. Autosomal dominant dopa-responsive dystonia. https://www.orpha.net/Mow., 2013.
4. Grotzsch H. Neuropathology of a case of doparesponsive dystonia associated with a new genetic locus, DYT14. Neurology 2002; 58(12): 1839-42.
Review
For citations:
Kostromina PG, Koryakina OV, Ovsova OV, Salomatov KS. Clinical case of autosomo-dominant Dopa-responsive torsion dystonia. Ural Medical Journal. 2018;(11):43-45. (In Russ.) https://doi.org/10.25694/URMJ.2018.11.20
Views:
151
Email this article 