Although this may be a result of the early stage of disease in these dogs, lack of optic nerve involvement is not entirely atypical for individuals with MECR variants, and because of the heterogeneity of clinical phenotypes occurring in children, research recently has suggested replacing the term childhood‐onset dystonia and optic atrophy with mitochondrial enoyl CoA reductase protein‐associated neurodegeneration (MEPAN).21, 22. Here, MECR is linked to Dystonia.