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Childhood onset GLUT1 deficiency syndrome 2
rareA form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.
- Identifiers
- MONDO:0012805 OMIM:612126Orphanet:98811
- Causal genes
- SLC2A1
- Part of
- GLUT1 deficiency syndromeDisorder of carbohydrate transmembrane transport and absorptionParoxysmal dyskinesia
- Also known as
- childhood onset GLUT1 deficiency syndrome type 2 · dystonia 18 · DYT-SLC2A1 · DYT18 · GLUT1 deficiency syndrome 2
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