Atypical presentations of DYT1 dystonia with acute craniocervical onset.
Parkinsonism Relat Disord. 2021 Jan 13;83:54-55. doi: 10.1016/j.parkreldis.2020.12.019. Epub ahead of print. PMID: 33476878.
|Authors/Editors:||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.|
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.