childhood-onset dystonia with optic atrophy and basal ganglia abnormalities

Term ID

DOID:0081419

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. https://pubmed.ncbi.nlm.nih.gov/27817865/

References

• GARD:13488
• MIM:617282
• ORDO:508093

Ontology

Human Disease   ( DOID:0081419 )