Secondary Dystonia in a Novel Mitochondriopathy Responsive to Deep Brain Stimulation Therapy

This is the authors' abstract. We don't add key points for this paper.

Basal ganglia are particularly vulnerable to mitochondrial dysfunction leading to a wide range of movement disorders of which dystonia and parkinsonism are the most common. Management of these conditions remains a challenge, because their response to all available treatments is poor. MEGDEL syndrome (3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, and Leigh-like syndrome) is one such rare mitochondriopathy that presents in early childhood. We report a patient with novel mutations in SERAC1 gene who presented with secondary dystonia and had a meaningful and sustained improvement in her condition with bilateral deep brain stimulation (DBS) therapy of the globus pallidus interna (GPi).