Conditions / Genetic
glucose transporter type 1 deficiency syndrome 2
info · Genetic
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.
Signs and symptoms
- Decreased circulating haptoglobin concentration
- Dyskinesia
- Hemolytic anemia
- Reticulocytosis
- Splenomegaly
- Increased CSF lactate
- Cerebral atrophy
- EEG abnormality
- Choreoathetosis
- Dystonia
Also known as: DYT18; GLUT1 deficiency syndrome 2; GLUT1DS2; childhood-onset GLUT1 deficiency syndrome 2; dystonia 18