Targeting the Subthalamic Nucleus in MEGDEL Syndrome: A Case Report of a Clinically Effective Intervention for Debilitating Lingual Dyskinesia and Dystonia

Abstract

Mitochondrial diseases exhibit heterogeneous pathophysiologies and phenotypes that, depending on severity, may substantially impair health, development, and life quality. This heterogeneity makes accurate disease-speci fi c treatment indispensable. This applies in particular to MEGDEL syndrome (associated with mutations in SERAC1): in the largest published cohort (n = 67), 58% of the patients exhibited oropharyngeal dyskinesia and tongue protrusion, whereas dystonic symptoms were observed in 82%. 1 Whereas a prior report documents successful deep brain stimulation (DBS) of the globus pallidus internus (GPi) in MEGDEL syndrome (Sharma et al. 2021), 2 this report details the fi rst therapeutically successful intervention targeting the sub-thalamic nucleus (STN).