European journal of neurology · 2021
Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Delorme Cécile, Roze Emmanuel, Karachi Carine, Vidailhet Marie, Hainque Elodie
Аннотация
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.
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.