Dystonia related to neurometabolic disorders and their treatment

ICNC2024
Update On The Diagnostic Approach and Treatment In Children With Dystonia

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.

Other Lectures in this symposium
Update diagnostic algorithm and pathogenic mechanisms in children with dystonia

Genetic etiology in childhood dystonia and treatment strategies