Neuropediatric approach to a child with dystonia

Abstract

Dystonia is one of the most frequent movement disorders in childhood. It can lead to delayed motor development and cause significant motor disability. For this reason, uncovering the etiology is the ultimate goal in the clinical evaluation of dystonia.

Dystonia is characterized by involuntary, permanent or occasional muscle contractions that cause abnormal, often repetitive movements, positions, or both. Dystonic movements are typically structured like twisting and can be tremulous, short, or prolonged due to difficulty in muscle relaxation. Diagnostic evaluation of childhood dystonia is challenging due to phenotypic variability and heterogeneous etiology, and is very limited, as is treatment itself. The assessment is mainly based on the clinical picture, anamnestic data, and neurological status. But advances in neurological imaging studies, as well as the identification of genes involved in dystonic syndromes and the characterization of new pathological entities, are expanding our understanding of childhood dystonia and expanding the spectrum of its diagnosis. A trial with levodopa can be both diagnostic and therapeutic in children with dystonia that responds to levodopa. However, for most children with early-onset dystonia, treatment is symptomatic with variable effectiveness. Unfortunately, there is a small amount of available research on the therapy of childhood dystonia, and most recommendations for treatment are based on consensus or the opinion of experts dealing with dystonia. In this presentation, we will present the available guidelines for the diagnostic assessment and pharmacological treatment of dystonia starting in childhood.