torsion dystonia 4
Findings
No curated finding names torsion dystonia 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
Definition from the Mondo Disease Ontology (MONDO:0007493), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
20 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.
- DysphoniaHPOHP:0001618
- 6 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Generalized dystoniaHPOHP:0007325
- Very frequent (80% to 99% of cases)
- Laryngeal dystoniaHPOHP:0012049
- Very frequent (80% to 99% of cases)
- TorticollisHPOHP:0000473
- 6 of 8 reported patients
- Frequent (30% to 79% of cases)
- Eunuchoid habitusHPOHP:0003782
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
Show the remaining 8
- DysphagiaHPOHP:0002015
- 2 of 8 reported patients
- Occasional (5% to 29% of cases)
- Involuntary movementsHPOHP:0004305
- Occasional (5% to 29% of cases)
- KyphoscoliosisHPOHP:0002751
- Occasional (5% to 29% of cases)
- Respiratory distressHPOHP:0002098
- Occasional (5% to 29% of cases)
- Upper limb postural tremorHPOHP:0007351
- Occasional (5% to 29% of cases)
- Limb dystoniaHPOHP:0002451
- 2 of 8 reported patients
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.
- TUBB4AHGNC:20774
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: torsion dystonia 4
- Also called
- DYT4hereditary whispering dysphoniatorsion dystonia type 4whispering dysphonia