--- license: permission_granted topic_id: companion_breed_health_staffordshire_bull_terrier_omia4759_dog category: companion-breed-health title: "Staffordshire Bull Terrier — Congenital muscular dystrophy, LAMA2-related (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/staffordshire_bull_terrier_omia4759_4759.txt date_parsed: 2026-08-02 tokens_estimated: 788 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_staffordshire_bull_terrier_omia4759_dog/01_companion_breed_health_staffordshire_bull_terrier_omia4759_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: "Staffordshire Bull Terrier — Congenital muscular dystrophy, LAMA2-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002459/9615/" 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
Staffordshire Bull Terrier — Congenital muscular dystrophy, LAMA2-related (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: Staffordshire Bull Terrier (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Muscular dystrophy due to causal variants in emLAMA2 /emis one of several inherited forms of muscular dystrophy in dogs.Clin feat: The affected [Italian Greyhound] dog presented with an abnormal short-strided gait, generalized muscle atrophy, and poor growth since 2-months of age. Serum biochemistry revealed a marked elevation in creatine kinase activity. Electrodiagnostic testing supported a myopathy. ... Physical examination revealed a poor body condition score (1/9) with generalized skeletal muscle atrophy. The dog would stand with mild kyphosis and valgus deformities. When ambulating the dog would maintain this posture, show a stiff pelvic limb gait with limited flexion of both stifles and hocks, and would externally rotate both tarsi during the early swing phase while externally rotating the stifles during the postural stance phase. The patellar reflexes were decreased bilaterally and the withdrawal reflexes were mildly decreased in the thoracic limbs. ... At 8 months of age, the gait worsened with intermittent, bilateral pelvic limb lameness. A repeat orthopedic examination revealed grade 3 and grade 2 patellar luxation on the left and right pelvic limb, respectively. Body condition score remained poor at 2/9. The dog was still alive at the time of manuscript submission, at one year and six months of age. At that stage, he was occasionally stumbling in the thoracic limbs and was coping with two walks a day of approximately 1800 meters each. Occasionally, he was taken for approximately 4000 m walks on top of his regular walks, after which he seemed tired. (Christen et al. 2021). Shelton et al. (2022): The [FS Staffordshire terrier] dog of this report presented for clinical evaluation at 2 years of age; however, clinical signs of weakness, stiff gait, and reduced jaw mobility had been present since the dog was adopted from a shelter at a few months of age. The history, neurological examination, increases in CK, electromyography abnormalities, and pathological changes on muscle biopsy were consistent with a chronic and progressive dystrophic myopathy. ... . Neither cranial nerve abnormalities nor behavioral changes were identified ...Defect: yesPathology: Christen et al. (2021): Biopsies [from the Italian Greyhound] were evaluated from the cranial tibial and gluteus muscles with similar changes in both muscles. A marked variability in myofiber size was observed with numerous atrophic fibers (diameters lt; 10 µm) and scattered hypertrophic fibers. Mild endomysial fibrosis, scattered myofibers containing internal nuclei, and occasional necrotic fibers undergoing phagocytosis were observed. The pattern of changes were consistent with a congenital myopathy with a dystrophic phenotype. Shelton et al. (2022): A dystrophic phenotype was identified histologically in muscle biopsies [of the FS Staffordshire terrier], deficiency of laminin α2 protein was confirmed by immunofluorescent staining ...
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 388250508 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Christen et al. (2021) "sequenced the genome of the affected [Italian Greyhound] dog and compared the data to that of 795 control genomes. This search revealed a private homozygous nonsense variant in LAMA2, XM_022419950.1:c.3285G>A, predicted to truncate 65% of the open reading frame of the wild type laminin α2 protein, XP_022275658.1:p.(Trp1095*). Immunofluorescent staining performed on muscl…
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.
- 2021. LAMA2 nonsense variant in an Italian Greyhound with congenital muscular dystrophy. Genes (Basel) — PubMed:PMID34828429 | DOI:10.3390/genes12111823 — OMIA Phene_Article / Article
- 2022. Congenital muscular dystrophy in a dog with a LAMA2 gene deletion. J Vet Intern Med — PubMed:PMID34854126 | DOI:10.1111/jvim.16330 — 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:156225 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607855 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:618138 (type: trait) — 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."