dystonia 12

Term ID

DOID:0090056

Synonyms

Definition

A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. (2)

References

• ICD10CM:G24.1
• MESH:C538001
• OMIM:128235
• ORDO:71517

Ontology

Human Disease   ( DOID:0090056 )