childhood onset GLUT1 deficiency syndrome 2 (DOID:0090045)
Alliance: disease page
Alt IDs: OMIM:612126, ICD10CM:G24.8, ORDO:98811
Definition: A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.