torsion dystonia 2
Findings
No curated finding names torsion dystonia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.
Definition from the Mondo Disease Ontology (MONDO:0009141), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Slowly progressive
HPO, annotations 2026-09-02
Features
11 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.
- Torsion dystoniaHPOHP:0001304
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- TorticollisHPOHP:0000473
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- BlepharospasmHPOHP:0000643
- 2 of 4 reported patients
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% 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.
- HPCAHGNC:5144
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: torsion dystonia 2
- Also called
- autosomal recessive torsion dystonia 2dystonic disorder caused by mutation in HPCADYT2HPCA dystonic disordertorsion dystonia type 2