dystonia 22, juvenile-onset (DOID:0060966)
Alliance: disease page
Alt IDs: OMIM:620453
Definition: A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22.