FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dystonia 9 ID (Ontology) DOID:0090044 (Human Disease)
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.
Also Known As "paroxysmal choreoathetosis with spasticity"
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 dystonia 9       5
 for disease ribbon | dystonia 9       5
 model of | dystonia 9       5
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease______________________
 |__glucose transporter type 1 deficiency syndrome__|
glucose metabolism disease                          |
 |__glucose transporter type 1 deficiency syndrome__|
movement disease                                    |
 |__dystonia________________________________________|
                                                    dystonia 9  5 rec.
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Is a autosomal dominant disease
glucose transporter type 1 deficiency syndrome
dystonia
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Synonyms
  • "paroxysmal choreoathetosis with spasticity" EXACT
Secondary IDs
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ICD10CM:G24.8
MIM:601042
ORDO:53583
UMLS_CUI:C1832855