Term Name:	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
Synonyms:	DYSTONIA 29, CHILDHOOD-ONSET, DYTOABG, MECR-related neurologic disorder, MEPAN syndrome, Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
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.
Ontology:	Human Disease [DOID:0081419]   ( DOID:0081419 )