Status dystonicus: management and prevention in children at high risk

Abstract

Background: Status dystonicus (SD) is a movement disorder emergency associated with significant morbidity and life-threatening events that requires immediate and effective treatment. Nevertheless, SD is currently an under-recognized and undertreated condition, partly due to the lack of a standard definition and because it can be the acute complicated course of both primary and secondary dystonias. In subjects with SD, due to  the delay of identification and  lacking prevention of trigger and precipitant factors, intensive care management is consistently required. Objectives: We performed a critical review of this topic, outlining clinical features and linked genetic disorders to recognize subject at higher risk of SD, describing precipitant and trigger factors and proposing potential pharmacological treatment strategies in order to prevent hospitalization. Results: Genetic predisposition included: primary dystonias particularly in the case of  TOR1A mutation; epileptic encephalopathy such as ARX and GNAO1 genetic variants and neurodegenerative disorders as PANK2. Early recognition of SD should be oriented by the following sign and symptoms: fever, tachycardia, respiratory change, hypertension, sweating and autonomic instability, elevated serum CK. Pain, fever and dehydration are main trigger factors that have to be prevented or quickly controlled. Achieving sleep could be the first therapeutic option in those with high risk of developing SD. Recently, enteral or transdermal clonidine as safety and efficacy therapeutic alternative was proposed. Conclusion: Recognizing high risk children for Status dystonicus from the onset of subtle signs and avoiding trigger factors could drive towards better management avoiding intensive treatments.