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childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease dystonia
External Links
- Disease Ontology
- DOID:0081419
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
