dystonia 16
Findings
No curated finding names dystonia 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
Definition from the Mondo Disease Ontology (MONDO:0012789), read 2026-09-29. CC BY 4.0.
- Onset and course
- Juvenile onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
16 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.
- Generalized dystoniaHPOHP:0007325
- 7 of 7 reported patients
- Limb dystoniaHPOHP:0002451
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Dysphonia
Show the remaining 4
- TorticollisHPOHP:0000473
- Frequent (30% to 79% of cases)
- Unsteady gaitHPOHP:0002317
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- 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.
- PRKRAHGNC:9438
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: dystonia 16
- Also called
- dystonia type 16dystonic disorder caused by mutation in PRKRADYT-PRKRADYT16early-onset dystonia parkinsonismPRKRA dystonic disorder