{"topic_id":"companion_breed_health_weimaraner_omia5259_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_weimaraner_omia5259_dog\ncategory: companion-breed-health\ntitle: \"Weimaraner — Dystonia-ataxia syndrome, paroxysmal, TNR-related (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/weimaraner_omia5259_5259.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 307\nverification:\n  method: substring_match\n  claims: 4\n  passed: 4\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_weimaraner_omia5259_dog/01_companion_breed_health_weimaraner_omia5259_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Weimaraner — Dystonia-ataxia syndrome, paroxysmal, TNR-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002663/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Weimaraner — Dystonia-ataxia syndrome, paroxysmal, TNR-related (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Weimaraner (Dog)`\n- `Disorder: `\n- `Clin feat: Christen et al. (2023): Four Weimaraner dogs (3 males and 1 female) from three different litters were presented for episodes of abnormal gait characterized by increased muscle contractions (dystonia), ataxia, and hypermetria, leading to occasional collapse. Kyphosis and low head carriage were also consistent features... . ... The age of onset was 3 to 7 months. Increased emotional arousal or exercise was reported to trigger the abnormal episodes, which could occur multiple times daily for 5 to 15 minutes. Two dogs displayed intermittent anisocoria associated with the episodes. Resting physical and neurological examinations were unremarkable in all cases, although the reported abnormalities were elicited by short periods of exercise in 3 dogs. Results of diagnostic investigations, including hematology, biochemistry, urine organic acids, lactate and pyruvate levels, enzymatic testing for storage diseases, acetylcholine receptor antibodies, muscle and nerve biopsies, MRI (brain and spinal cord), cerebrospinal fluid analysis, and electrophysiology, were mainly unremarkable`\n- `Defect: yes`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 388254795 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Christen et al. (2023): \"Whole genome sequencing revealed a private frameshift variant in the TNR (tenascin-R) gene in an affected dog, XM_038542431.1:c.831dupC, which is predicted to truncate more than 75% of the open read frame. Genotypes in a cohort of 4 affected and 70 unaffected Weimaraners showed perfect association with the disease phenotype.\"\n\n## Evidence (references)\nDerived 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.\n- 2023. A TNR frameshift variant in Weimaraner dogs with an exercise-induced paroxysmal movement disorder. Mov Disord — PubMed:PMID37023257 | DOI:10.1002/mds.29391 — OMIA Phene_Article / Article\n- 2024. Canine paroxysmal dyskinesia-a review. Front Vet Sci — PubMed:PMID39119350 | DOI:10.3389/fvets.2024.1441332 — OMIA Phene_Article / Article\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:619653 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:601995 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Weimaraner — Dystonia-ataxia syndrome, paroxysmal, TNR-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Weimaraner — Dystonia-ataxia syndrome, paroxysmal, TNR-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/37023257/","retrieved":"","ref":"PMID 37023257","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":778,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}