dystonia 9
Findings
No curated finding names dystonia 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
Definition from the Mondo Disease Ontology (MONDO:0010983), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Paroxysmal dyskinesiaHPOHP:0007166
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- ChoreoathetosisHPOHP:0001266
- Frequent (30% to 79% of cases)
- DiplopiaHPOHP:0000651
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Episodic ataxiaHPOHP:0002131
- Frequent (30% to 79% of cases)
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- ParesthesiaHPOHP:0003401
- Frequent (30% to 79% of cases)
- Spastic paraplegiaHPOHP:0001258
- Frequent (30% to 79% of cases)
Show the remaining 1
- Bilateral tonic-clonic seizureHPOHP:0002069
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC2A1HGNC:11005
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: dystonia 9
- Also called
- dystonia type 9DYT9episodic choreoathetosis/spasticity