Paroxysmal Dyskinesia (Discovered in the Irish Soft Coated Wheaten Terrier; PIGN-related; PxD)
Paroxysmal Dyskinesia (Discovered in the Irish Soft Coated Wheaten Terrier; PIGN-related; PxD). Autosomal recessive. Observed in 1 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,626 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.
- OMIA identifier
- OMIA:002084-9615
- InheritanceInheritance patternWhat it isHow the condition is passed down: recessive (two copies needed), dominant (one copy), or more complex.For your dogRecessive means a single-copy carrier is usually healthy but can still pass it on.PreciselyThe documented mode of Mendelian transmission (autosomal recessive or dominant, X-linked, etc.) per OMIA.OMIA · documented
- Autosomal recessive
- Source dataset
- Sniff Atlas v1.0.1 / DOI
A model of human multiple congenital anomalies-hypotonia-seizures syndrome 1
This is the canine counterpart of multiple congenital anomalies-hypotonia-seizures syndrome 1 in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.
In people, the disease is described as: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.
In humans it is also called: MCAHS1, PIGN-CDG, inherited GPI anchor-deficiency.
Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.
From OMIA's curated record
Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.
Molecular genetics
Human analog
OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.
Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002084-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).
Published references
The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 7.
- Canine paroxysmal dyskinesia-a review. · Front Vet Sci · 2024 · PMID 39119350
- An overview of canine inherited neurological disorders with known causal variants. · Animals (Basel) · 2023 · PMID 38003185
- Dystonia in veterinary neurology. · J Vet Intern Med · 2022 · PMID 36086931
- International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. · J Vet Intern Med · 2021 · PMID 33769611
- Paroxysmal dyskinesia in Border Terriers: Clinical, epidemiological, and genetic investigations. · J Vet Intern Med · 2017 · PMID 28703446
- A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. · Neurogenetics · 2016 · PMID 27891564
References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.
Set each parent's status for Paroxysmal Dyskinesia (Discovered in the Irish Soft Coated Wheaten Terrier; PIGN-related; PxD) and see the odds for their puppies. Single recessive variant, exact Mendelian math.
These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.
See what Paroxysmal Dyskinesia (Discovered in the Irish Soft Coated Wheaten Terrier; PIGN-related; PxD) looks like in your dog's breed.
Top 1 well-sampled breeds (n ≥ 50)
Maximum carrier frequencyCarrier frequencyWhat it isHow many dogs in a breed carry one copy of a disease variant, usually without being affected themselves.For your dogA carrier is typically healthy. For most recessive conditions a dog needs two copies to be at risk.PreciselyThe proportion of a population carrying at least one copy of the variant allele. Population prevalence, not disease incidence.Sniff Atlas (Donner 2023) · measured per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervalsWilson 95% confidence intervalWhat it isThe range the true frequency is probably in. A wide range means we are less sure, usually because few dogs were tested.For your dogTrust tight ranges; treat wide ones as rough estimates.PreciselyA binomial-proportion confidence interval (Wilson score, 95%) that stays reliable at small sample sizes.Sniff Atlas methodology · statistical. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.
▸ Full table with Wilson 95% confidence intervals
| Breed | Carrier frequency | n tested |
|---|---|---|
| Soft Coated Wheaten Terrier | 3.1% | 606 |
265 additional breeds in the Donner 2023 cohort were tested but showed no carriers.
Scope
This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.
Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.
Citations
If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:
- Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
- OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:002084-9615.
- Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.
Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.
Related
- Sniff Atlas v1.0.1, the source dataset for these frequencies.
- Browse breeds, per-breed Mendelian profiles, including this disease in context.
- OMIA entry OMIA:002084-9615, authoritative clinical reference.
- About OMIA, the catalogue this record comes from, and how Sniff uses it.