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Update On The Diagnostic Approach and Treatment In Children With Dystonia

Administrator: Wang Tso Lee

Update diagnostic algorithm and pathogenic mechanisms in children with dystonia
Wang-Tso Lee

Movement disorders are common in children. Of these, dystonia is not an uncommon presentation in children with different neurological diseases. Children with dystonia may be mistaken to be seizures, and give unnecessary treatment with anti-epileptic drugs. In addition, dystonia may be associated with different neurological diseases, like neurometabolic diseases, neuroinflammatory diseases, acquired brain injury (cerebral palsy), and genetic diseases. The etiologies of dystonia in children may be different from those in adults. Proper treatment of children with dystonia may lead to better prognosis of children with different etiologies. However, for general pediatric or adult neurologists, they have no idea how to recognize dystonia and give proper treatment. Therefore, in my talk, I will focus on diagnostic algorithm about children with dystonia of different etiologies. The possible pathogenic mechanisms will also be clarified. The general neurologists will learn how to treat these patients in their career.
 

Dystonia related to neurometabolic disorders and their treatment
Michèl Willemsen

Many genetic and acquired disorders of the brain in children can cause dystonia, leading to different complications of variable severity. In this presentation, a focus will be on genetic disorders of brain metabolisms, including different neurometabolic disorders, in children, which typically present with dystonia or may be associated with dystonia. Neurological and non-neurological features important for clinical recognition, radiologic and laboratory work-up to establish a final diagnosis of neurometabolic diseases, and possible guidelines for treatment of these diseases, which are important for our daily practice, will be discussed in my talk. The topic will not only be presented from a “whole genome sequencing and gene therapy” perspective, but will also provide a practical approach, discussing diagnostic and therapeutic strategies for colleagues working in resource-limited regions. Therefore, the talk will be interesting to most pediatric or adult neurologists, including those from resource-limited regions, and they will learn how to diagnose and treat these patients after the talk.

 

Genetic etiology in childhood dystonia and treatment strategies
Esra Serdaroglu

Dystonia is a feature of several pediatric onset genetic disorders. Molecular biology and genetic studies have identified many genes and biological networks associated with dystonia. Onset in childhood and/or a positive family history should raise suspicion of a genetic cause. Due to great heterogeneity, genotype phenotype correlation is not always straightforward. Accurate and detailed endophenotyping is critical. Dystonia may occur in isolation, with other movement disorders or as part of a complex neurological syndrome. In contrast to dystonia in adults, isolated dystonia in children rarely remains focal. 
Establishing a precise genetic cause of dystonia is important for appropriate treatment and counseling. Genetic etiology may influence pharmacological treatment choices. For focal dystonias, independent of the genetic diagnosis, botulinum toxin injections are recommended. The most obvious effect of genetic cause in the choice of treatment is for neuromodulation. Deep brain stimulation is highly effective in selected etiologies such as DYT-TOR1A.