Atypical presentations of DYT1 dystonia with acute craniocervical onset

Pavelekova, P.; Jech, R.; Zech, M.; Krepelova, A.; Han, V.; Mosejova, A.; Liba, Z.; Urgosik, D.; Gdovinova, Z.; Havrankova, P.; Fecikova, A.; Winkelmann, J. und Skorvanek, M. (2021): Atypical presentations of DYT1 dystonia with acute craniocervical onset. In: Parkinsonism & Related Disorders, Bd. 83: S. 54-55

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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin > Munich Cluster for Systems Neurology (SyNergy)
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• Sprache: Englisch
• DFG: Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 390857198