Although no universally accepted diagnostic criteria exist for the LSS, this case supports a LLS associated with a pathogenic DNM1 variant, characterized by mild-neurodevelopmental regression, epilepsy, sensorineural hearing loss, generalized dystonia, ataxic gait, and bilateral basal ganglia hyperintensities on MRI, in the absence of elevated serum lactate levels or response to coenzyme Q treatment [6, 11, 18]. Here, DNM1 is linked to generalized dystonia.