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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
Language English Country Great Britain
Document type Case Reports, Letter, Research Support, Non-U.S. Gov't
- MeSH
- Child MeSH
- Adult MeSH
- Dystonia Musculorum Deformans complications genetics physiopathology therapy MeSH
- Humans MeSH
- Torticollis etiology genetics physiopathology therapy MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Letter MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
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.
Department of Neurology Faculty of Medicine P J Safarik University Kosice Slovakia
Department of Neurology University Hospital of L Pasteur Kosice Slovakia
Department of Stereotactic and Radiation Neurosurgery Na Homolce Hospital Prague Czech Republic
Institute for Human Genetics Technische Universität München Munich Germany
Institute of Neurogenomics Helmholtz Zentrum München Munich Germany
Lehrstuhl für Neurogenetik Technische Universität München Munich Germany
References provided by Crossref.org
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