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<p>Dystonia-deafness syndrome 1 (DDS1) is a rare disorder caused by the p.(Arg183Trp) heterozygous variant in <i>ACTB</i>. Patients present with congenital/early-onset sensorineural deafness, then childhood/adult-onset generalized dystonia. We describe a 38 y.o patient with additional features, including brain malformations: corpus callosum and vermis hypodysplasia. These novel features expand the clinical spectrum of DDS1, and suggests an overlap with <i>ACTB</i>-related Baraitser-Winter syndrome. Furthermore, we report a limited improvement after Globus Pallidus internus Deep Brain Stimulation (GPi-DBS) contrary to previous publications, bringing a novel message in terms of prognosis.</p>

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Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum

  • 期刊论文

  • 发表日期：

    2026年1月8日

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  • Silvestre Cuinat,
  • Tiphaine Rouaud,
  • Thomas Besnard,
  • Stéphane Bézieau,
  • Philippe Bordure,
  • Florent Espitalier,
  • Irina Viakhireva-Dovganyuk,
  • Alain Verloes,
  • Marie-Laure Vuillaume,
  • Salim Khiati,
  • Vincent Procaccio,
  • Sandra Mercier

摘要

Dystonia-deafness syndrome 1 (DDS1) is a rare disorder caused by the p.(Arg183Trp) heterozygous variant in ACTB. Patients present with congenital/early-onset sensorineural deafness, then childhood/adult-onset generalized dystonia. We describe a 38 y.o patient with additional features, including brain malformations: corpus callosum and vermis hypodysplasia. These novel features expand the clinical spectrum of DDS1, and suggests an overlap with ACTB-related Baraitser-Winter syndrome. Furthermore, we report a limited improvement after Globus Pallidus internus Deep Brain Stimulation (GPi-DBS) contrary to previous publications, bringing a novel message in terms of prognosis.