Search

Introduction: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients.Objectives: To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation.Methods: We report on disease course, genetic testing, and management of 2 patients, mother and daughter, presenting with dystonia-deafness syndrome.Results: After exclusion of known dystonia-deafness syndrome causes, whole-exome sequencing revealed a beta-actin gene mutation (p.Arg183Trp) in both patients. Although beta-actin gene mutations are generally associated with developmental Baraitser-Winter syndrome, dystonia-deafness syndrome has been reported once in identical twin brothers. Bilateral GPi-DBS led to a significant decrease of dystonia and regain of independency in our patients.Conclusion: The p.Arg183Trp mutation in the beta-actin gene is associated with the clinical presentation of dystonia-deafness syndrome, even with only minimal or no developmental abnormalities of Baraitser-Winter syndrome. GPi-DBS should be considered to ameliorate the invalidating dystonia in these patients. © 2016 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. Recently, a paradigm shift has occurred in molecular genetic diagnostics, with next-generation sequencing techniques now allowing us to analyse hundreds of genes simultaneously. To ensure that patients benefit from these new techniques, adaptation of current diagnostic strategies is needed. On the basis of a systematic literature review of dystonia with onset in childhood or adolescence, we propose a novel diagnostic strategy with the aim of helping clinicians determine which patients may benefit by applying these new genetic techniques and which patients first require other investigations. We also provide an up-to-date list of candidate genes for a dystonia gene panel, based on a detailed literature search up to 20 October 2014. While new genetic techniques are certainly not a panacea, possible advantages of our proposed strategy include earlier diagnosis and avoidance of unnecessary investigations. It will therefore shorten the time of uncertainty for patients and their families awaiting a definite diagnosis. [ABSTRACT FROM AUTHOR]

Introduction: Deep brain stimulation (DBS) has emerged as an effective treatment in medically intractable dystonia, with the globus pallidus internus (GPi) being most frequently targeted. Non-motor symptoms, including pain and psychiatric, cognitive and sleep disturbances, are increasingly recognized as important determinants of disease burden in dystonia patients. We reviewed non-motor outcomes of DBS in dystonia, focusing on GPi-DBS.Methods: A systematic literature search of Pubmed and Embase was performed according to the PRISMA guidelines.Results: Fifty-two studies were included. GPi-DBS reduced pain related to dystonia. No major effects on anxiety, mood, and cognition were found. In contrast to motor outcome, non-motor outcome seems more independent of the etiology of dystonia. However, the impact of potential confounders (e.g. patient factors, changes in pharmacological treatment) is unclear.Conclusion: Despite the growing interest in non-motor symptoms in dystonia, DBS studies still focus primarily on motor outcome. We recommend systematic evaluation of both non-motor and motor features before and after DBS interventions to improve quality of life and management of patients with dystonia. [ABSTRACT FROM AUTHOR]