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dystonia 9
Summary
- Synonym
-
- paroxysmal choreoathetosis with spasticity
- Definition
- A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, 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.
- Super Class
- autosomal dominant disease dystonia glucose transporter type 1 deficiency syndrome
External Links
- Disease Ontology
- DOID:0090044
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11166 | Solute carrier family 2, facilitated glucose transporter member 1 |
