Peer-reviewed veterinary case report
Muscle weakness and joint problems in Staffordshire Terriers
By Jankelunas, Leanne et al.·Published in Journal of veterinary internal medicine·2023·Department of Veterinary Clinical Sciences, United States·View original on PubMed →
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Original publication title: Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy.
- Species:
- dog
Plain-English summary
Two 10-month-old American Staffordshire Terrier siblings were brought to the vet because they were getting weaker and had trouble with their joints, which started around 6 months of age. After various tests, including muscle biopsies, the vets found that they had a genetic issue linked to a type of muscular dystrophy. Specifically, a deletion in the COL6A3 gene was identified, which affects muscle function. Unfortunately, this condition is inherited and can lead to ongoing muscle weakness and joint problems.
People also search for: American Staffordshire Terrier muscle weakness · congenital muscular dystrophy in dogs · joint problems in puppies
Abstract
Two (male and female) 10-month-old American Staffordshire Terrier littermates presented for progressive weakness, joint contracture, and distal limb joint hyperlaxity beginning around 6 months of age. Neurological examination, serum creatine kinase activity, infectious disease titers, cerebrospinal fluid analysis, and electrodiagnostic testing were performed. Muscle biopsies were collected for histopathology and immunofluorescence staining for localization of dystrophy associated proteins. Whole-genome sequencing (WGS) was performed on 1 affected dog. Variants were compared to a database of 671 unaffected dogs of multiple breeds. Histopathology confirmed a dystrophic phenotype and immunofluorescence staining of muscle cryosections revealed an absence of staining for collagen-6. WGS identified a homozygous 1 bp deletion in the COL6A3 gene, unique to the first affected dog. Sanger sequencing confirmed the homozygous presence of the frameshift variant in both affected dogs. This report describes the clinical features and most likely genetic basis of an Ullrich-like recessively inherited form of congenital muscular dystrophy in American Staffordshire Terriers.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/37706358/