Atypical presentations of DYT1 dystonia with acute craniocervical onset

P Pavelekova; R Jech; M Zech; A Krepelova; V Han; A Mosejova; Z Liba; D Urgosik; Z Gdovinova; P Havrankova; A Fecikova; J Winkelmann; M Skorvanek

doi:10.1016/j.parkreldis.2020.12.019

Atypical presentations of DYT1 dystonia with acute craniocervical onset

Parkinsonism Relat Disord. 2021 Feb:83:54-55. doi: 10.1016/j.parkreldis.2020.12.019. Epub 2021 Jan 13.

Authors

P Pavelekova¹, R Jech², M Zech³, A Krepelova⁴, V Han⁵, A Mosejova⁵, Z Liba⁶, D Urgosik⁷, Z Gdovinova⁵, P Havrankova², A Fecikova², J Winkelmann⁸, M Skorvanek⁵

Affiliations

¹ Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia. Electronic address: petra.dosekova@upjs.sk.
² Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
³ Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute for Human Genetics, Technische Universität München, Munich, Germany.
⁴ Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
⁵ Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia.
⁶ Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
⁷ Department of Stereotactic and Radiation Neurosurgery, Na Homolce Hospital, Prague, Czech Republic.
⁸ Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute for Human Genetics, Technische Universität München, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.

PMID: 33476878
DOI: 10.1016/j.parkreldis.2020.12.019

Abstract

DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual presentation of the disease.

Keywords: Acute onset; Acute-onset dystonia; Atypical DYT1; DYT1; Rapid-onset dystonia; TOR1A.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child
Dystonia Musculorum Deformans / complications
Dystonia Musculorum Deformans / genetics
Dystonia Musculorum Deformans / physiopathology*
Dystonia Musculorum Deformans / therapy
Female
Humans
Male
Torticollis / etiology
Torticollis / genetics
Torticollis / physiopathology*
Torticollis / therapy

Supplementary concepts

Dystonia musculorum deformans type 1