Dystonia-plus DYT12: difficulties in diagnosis of an early disease onset

E.V. Shishkina¹, T.N. Bazilevskaia², A.B. Belkina², A.A. Andreeva², L.P. Alyieva², A.I. Paramonova¹, M.O. Prozhkevich¹, D.A. Maiseenko¹

¹Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Krasnoyarsk

²Krasnoyarsk Trans-Regional Children’s Clinical Hospital No. 1, Krasnoyarsk

Dystonia is a group of diseases of various etiology. To date, there is an etiological classification dividing all dystonia into primary (idiopathic) and secondary variants.

This article presents our own clinical experience concerning follow-up and establishing the final diagnosis in a patient with one of the genetically determined dystonia-plus course variants in the form of early dystonia parkinsonism onset (DYT12) with manifestation in the early puberty period. It is an autosomal dominant disease with a genetically proven ATR1A3 gene mutation. The distinctive patterns of this disease from the classic dystonia view are described in detail. In this dystonia type, there are patterns of the first disease signs that resemble neuroinfection manifestations. Commonly, the trigger of such an event can serve as various infectious processes. The article describes in detail the first clinical manifestations in the somatic and neurological status and further signs transformation over the disease course, data from additional instrumental examinations such as brain imaging, electromyography. Based on these examinations, the authors were able t o initially suspect this disease and later confirm it during molecular genetic examination (target genetic panel for neurodegenerative diseases).

Keywords: diagnosis, clinical manifestations, early signs, DYT12, dystonia-plus, pediatric practice.

For citation: Shishkina E.V., Bazilevskaia T.N., Belkina A.B. et al. Dystonia-plus DYT1: difficulties in diagnosis of an early disease onset.
RMJ. 2020;2:37–39.