X-linked dystonia-parkinsonism
Findings
No curated finding names X-linked dystonia-parkinsonism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.
Definition from the Mondo Disease Ontology (MONDO:0010747), read 2026-09-29. CC BY 4.0.
Features
19 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.
- BlepharospasmHPOHP:0000643
- Frequent (30% to 79% of cases)
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- ChoreaHPOHP:0002072
- Frequent (30% to 79% of cases)
- Focal dystoniaHPOHP:0004373
- Frequent (30% to 79% of cases)
- Hand tremorHPOHP:0002378
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- Parkinsonism with favorable response to dopaminergic medicationHPOHP:0002548
- Frequent (30% to 79% of cases)
- Postural instabilityHPOHP:0002172
- Frequent (30% to 79% of cases)
- Progressive extrapyramidal muscular rigidityHPOHP:0007158
- Frequent (30% to 79% of cases)
- Resting tremorHPOHP:0002322
- Frequent (30% to 79% of cases)
- Shuffling gaitHPOHP:0002362
- Frequent (30% to 79% of cases)
- Torsion dystoniaHPOHP:0001304
- Frequent (30% to 79% of cases)
Show the remaining 7
- Aspiration pneumoniaHPOHP:0011951
- Occasional (5% to 29% of cases)
- Frequent fallsHPOHP:0002359
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- Impaired oropharyngeal swallow responseHPOHP:0031162
- Occasional (5% to 29% of cases)
- Laryngeal stridorHPOHP:0006511
- Occasional (5% to 29% of cases)
- Limb dystoniaHPOHP:0002451
- Occasional (5% to 29% 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.
- TAF1HGNC:11535
- Strong · Ambry Genetics · X-linked · 2024
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Genomics England PanelApp · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
7 names
Resolves to: X-linked dystonia-parkinsonism
- Also called
- dystonia-Parkinsonism, X-linked, X-linked recessiveDYT-TAF1DYT3LubagLubag syndromeX-linked dystonia ParkinsonismXDP