childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (DOID:0081419)
Alliance: disease page
Synonyms: DYSTONIA 29, CHILDHOOD-ONSET; DYTOABG; MECR-related neurologic disorder; MEPAN syndrome; Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
Alt IDs: OMIM:617282, ORDO:508093
Definition: A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later.