No abstract

Status dystonicus is a movement disorder emergency that has been a source of controversy in terms of terminology, phenomenology, and management since it was first described in 1982. Here we argue that the current use of the term status dystonicus falls well short of the precision needed for either clinical or academic use. We performed a critical review on this topic, describing possible pathophysiological mechanisms and areas of uncertainties. This review also addresses the problems derived by the extreme clinical heterogeneity of this condition, as the lack of an objective criterion useful for the definition, or the fact that status dystonicus may present not only in the context of a known dystonic syndrome. We propose a new possible definition that includes not only dystonia but also other hyperkinetic movements in the wide range of movement disorders that can be seen during an episode. The new definition keeps the term status dystonicus and highlights the fact that this is a medical emergency based on the impairment of bulbar and/or respiratory function requiring hospital admission as the principal feature. Furthermore, the new definition should not consider as necessary unspecific features as patient's condition at baseline, the distribution of dystonia, occurrence of systemic symptoms such as fever or laboratory findings. We hope that this proposal will stimulate the debate on this subject among our peers, further developing a clinical and pathophysiological understanding of status dystonicus. © 2017 International Parkinson and Movement Disorder Society.

Background Disorders related to dysfunction of coenzyme (CoQ10) metabolism, including AarF domain containing kinase 3 gene (ADCK3) mutations, have received attention due to the potential for response to CoQ10 supplementation. Methods We describe two new cases of neurological syndromes due to ADCK3 mutations that obtained striking benefit from CoQ10, and a third who did not. We also review 20 cases from the literature in which responses to CoQ10 were documented out of all 38 previously reported cases. Results Despite the remarkable responses in some cases with ataxia and movement disorders (myoclonus, dystonia, tremor), overall, we were not able to identify variables that predicted response to CoQ10 supplementation. Conclusions Based on our experience and data from the literature, we recommend a minimum of 10 mg/kg/day of ubiquinone with titration up to 15 mg/kg/day, maintained at least for 6 months in order to obtain or exclude potential benefit from therapy.