Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation

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.

Automated summary

This case study documented a 44-year-old patient with a wide phenotypic spectrum of generalized dystonia associated with TUBB4A gene mutations. After undergoing bipallidal deep brain stimulation surgery, a significant reduction in dystonia severity was observed, particularly in the cervical and facial regions.