glucose transporter type 1 deficiency syndrome 2

Term ID

DOID:0090045

Synonyms

• childhood-onset GLUT1 deficiency syndrome 2
• dystonia 18
• DYT18
• GLUT1 deficiency syndrome 2
• GLUT1DS2
• paroxysmal exercise-induced dyskinesia
• paroxysmal exertion-induced dyskinesia
• PED

Definition

A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. (2)

References

• GARD:10541
• ICD10CM:G24.8
• MESH:C564288
• MIM:612126
• ORDO:98811
• UMLS_CUI:C1842534

Ontology

Human Disease   ( DOID:0090045 )