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MEPAN syndrome

Disease definition

A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive childhood-onset dystonia, DYT29 type
    • Childhood-onset generalized dystonia-optic atrophy syndrome
    • DYT29
    • Dystonia 29
    • Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: E88.8
  • OMIM: 617282
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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