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Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation
Cécile Delorme1,2, Emmanuel Roze1,2, Carine Karachi2,3
1Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.
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.
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