Genetic etiology in childhood dystonia and treatment strategies

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

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.

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

Genetic etiology in childhood dystonia and treatment strategies