Atypical presentations of DYT1 dystonia with acute craniocervical onset

Abstrakt

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.

Klíčová slova

• Acute onset
• Acute-onset dystonia
• Atypical DYT1
• DYT1
• Rapid-onset dystonia
• TOR1A