Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation
Abstract
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.
1 DISCLOSURE OF CONFLICTS OF INTEREST
The authors have no conflicts of interest in connection with this article.
Open Research
DATA AVAILABILITY STATEMENT
All the data are available in the Department of Neurology at the Pitié-Salpêtrière hospital.
