torsion dystonia 2 (DOID:0090038)
Alliance: disease page
Alt IDs: OMIM:224500, ICD10CM:G24.1, ORDO:99657
Definition: A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35.