Shetland Sheepdog — paroxysmal exercise-induced dyskinesia (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_shetland_sheepdog_paroxysmal_exercise_induced_dyskinesia_dog category: companion-breed-health title: "Shetland Sheepdog — paroxysmal exercise-induced dyskinesia (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/shetland_sheepdog_paroxysmal_exercise_induced_dyskinesia_6054.txt date_parsed: 2026-08-02 tokens_estimated: 258 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_shetland_sheepdog_paroxysmal_exercise_induced_dyskinesia_dog/01_companion_breed_health_shetland_sheepdog_paroxysmal_exercise_induced_dyskinesia_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Shetland Sheepdog — paroxysmal exercise-induced dyskinesia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002868/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Shetland Sheepdog — paroxysmal exercise-induced dyskinesia (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Shetland Sheepdog (Dog)
• Disorder: paroxysmal exercise-induced dyskinesia
• Clin feat: Nessler et al. (2020): Four female Shetland Sheepdogs (age 2–6 years) were presented due to progressive dyskinetic episodes. ... The episodes were characterized by generalized ataxia with hypermetria and muscular hypertonia of all limbs, dystonia, normal to mildly reduced mentation, and a mild tremor. In the more severe episodes, the dogs were no longer ambulatory. ... The episodes varied from minutes to hours and could start while at rest, or during activity. In case 4, they were triggered by excitement or stress ... . In cases 1–3, hot weather seemed to aggravate the clinical signs. ... Laboratory diagnostic findings included mild lactic acidosis and lactaturia, mild intermittent serum creatine kinase (CK) elevation and hypoglycemia. Electrophysiological tests and magnetic resonance imaging of the brain were unremarkable.
• Defect: yes

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 398298918 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Nessler et al. (2020) investigated four "female Shetland Sheepdogs with hypertonic paroxysmal dyskinesia, mainly triggered by exercise and stress ... . The genomes of two cases were sequenced and compared to 654 control genomes. The analysis revealed a case-specific missense variant, c.1658G&gt;A or p.Arg553Gln, in the&nbsp;<em>PCK2</em> gene encoding the mitochondrial phosphoenolpyruvate carboxyk…

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 2024. Canine paroxysmal dyskinesia-a review. Front Vet Sci — PubMed:PMID39119350 | DOI:10.3389/fvets.2024.1441332 — OMIA Phene_Article / Article
• 2020. Mitochondrial PCK2 missense variant in Shetland Sheepdogs with paroxysmal exercise-induced dyskinesia (PED). Genes (Basel) — PubMed:PMID32660061 | DOI:10.3390/genes11070774 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:614095 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."