Atypical presentations of DYT1 dystonia with acute craniocervical onset. (February 2021)

• Record Type: Journal Article
• Authors: Pavelekova, P.; Jech, R.; Zech, M.; Krepelova, A.; Han, V.; Mosejova, A.; Liba, Z.; Urgosik, D.; Gdovinova, Z.; Havrankova, P.; Fecikova, A.; Winkelmann, J.; Skorvanek, M.
• Is Part Of: Parkinsonism & related disorders. Volume 83(2021)
• Page Start: 54
• Page End: 55
• Publication Date: 2021-02
• Subjects: Atypical DYT1 -- Rapid-onset dystonia -- Acute-onset dystonia -- DYT1 -- TOR1A -- Acute onset; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2020.12.019
• Languages: English
• ISSNs: 1353-8020

Abstract

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.