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

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).