Objective: To describe the response to deep brain stimulation (DBS) in a patient with ACTB-related deafness-dystonia syndrome with three years of follow-up and to review the literature regarding DBS experience in deafness-dystonia syndrome.

Background: Different etiologies have been associated with the deafness-dystonia syndrome. [1] Some of these patients may show a good response to internal globus pallidus (GPi) DBS. [2-4]

Method: We report a 19-year-old man with mild developmental delay and neurosensorial deafness since childhood treated with cochlear implants. Abnormal postures with hands tremor were reported since adolescence with severe interference in his daily life by the age of 17. At the examination, he showed facial dysmorphia, dysarthria, generalized dystonia with bilateral dystonic tremor and gait impairment. Brain MRI, performed after cochlear implant removal, and extensive diagnostic workout were unremarkable. The pathogenic variant c.547C>T p.(Arg183Trp) in the ACTB gene was reported, and bilateral GPi-DBS was performed. A PubMed search with the term “dystonia” AND “deafness” between 1980 and 2022 showed 169 results. After reviewing the abstracts, we selected all the works that reported DBS in patients with deafness-dystonia syndrome.

Results: Our patient experienced a significant improvement in the appendicular and oromandibular component of the dystonia with a sustained response after a 3-year follow-up with independence in daily life activities. Regarding the review of the literature, 8 articles with a total of 9 patients treated with GPi-DBS were found. All except one reported data regarding follow-up and degree of improvement. Five cases reported a genetically confirmed etiology (4 ACTB-related and 1 TIMM8a-related dystonia). Generalized dystonia was present in all patients, with a childhood onset in 7 of them. Five patients also had cochlear implants, showing no interference with DBS. There was a sustained response to DBS in 8 patients over an average of 2.73 ± 2.36 years of follow-up. They all reported no basal ganglia lesions in MRI.

Conclusion: Bilateral GPi-DBS is an effective therapeutic option in genetically confirmed deafness-dystonia syndrome. Cochlear implants do not interfere with the normal functioning of DBS.

References: [1]. Kojovic M, Pareés I, Lampreia T, et al. The syndrome of deafness-dystonia: Clinical and genetic heterogeneity. Mov Disord. 2013;28:795–803.
[2]. Cif L, Gonzalez V, Garcia-ptacek S, James S, Boetto J. Progressive Dystonia in Mohr-Tranebjaerg Syndrome With Cochlear Implant and Deep Brain Stimulation. 2013;28:737–8.
[3]. Eggink H, van Egmond ME, Verschuuren-Bemelmans CC, et al. Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation. Mov Disord. 2017;32:162–5.
[4]. Skogseid IM, Røsby O, Konglund A, et al. Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation. J Neurodev Disord. 2018;10:4–11.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/internal-globus-pallidus-deep-brain-stimulation-in-actb-related-deafness-dystonia/