Background: Mutations in TUBB4A are associated with a wide phenotypic spectrum including generalized dystonia with whispering dysphonia (DYT-TUBB4A).
Methods: We report the case of a 44-year-old patient with DYT-TUBB4A with a clinical presentation of disabling progressive dystonia, with a prominent laryngeal, cervical and facial involvement.
Results: Bipallidal deep brain stimulation (DBS) resulted in a 55% reduction of dystonia severity assessed by the Burke-Fahn-Marsden scale score 6 months after surgery. The effect was obvious on the cervical and facial components of dystonia.
Conclusion: We suggest that bipallidal DBS should be considered in patients with disabling dystonia related to TUBB4A variants.
Keywords: TUBB4A; deep brain stimulation; dysphonia; dystonia; globus pallidum internus.
© 2020 European Academy of Neurology.