Peer-reviewed veterinary case report
Muscle weakness and swallowing trouble in a young Australian Cattle
By Bernier-Parker, Nathan et al.·Published in Journal of the American Animal Hospital Association·2025·From the Veterinary Neurological Center·View original on PubMed →
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Original publication title: Dystrophin-Deficient Muscular Dystrophy in an Australian Cattle Dog (Blue Heeler).
- Species:
- dog
Plain-English summary
A 9-month-old male Australian Cattle Dog was brought to the vet because he was getting weaker and having trouble swallowing, starting at 4 months old. Blood tests showed very high levels of a muscle enzyme, and muscle biopsies confirmed he had a condition called dystrophin-deficient muscular dystrophy, which affects muscle function. This is the first time this specific muscle disease has been identified in this breed. Unfortunately, there is no cure, and further genetic testing is needed to understand the exact cause of the condition.
People also search for: Australian Cattle Dog weakness · dog swallowing problems · muscular dystrophy in dogs · high creatine kinase in dogs · dog muscle disease treatment
Abstract
X-linked dystrophin-deficient muscular dystrophy is associated with a mutation of the DYS gene located on the X chromosome. To date, dystrophinopathy has been identified in 16 different dog breeds with 20 different variants confirmed. In this report, a 9 mo old male Australian cattle dog was evaluated for progressive generalized weakness and dysphagia beginning at 4 mo of age. A markedly elevated creatine kinase activity was noted on blood chemistry, and muscle biopsies confirmed a dystrophic phenotype. Dystrophin deficiency was identified by immunohistochemistry. In this report we identify dystrophin-deficient muscular dystrophy for the first time in a 9 mo old intact male Australian cattle dog. This finding expands the list of breeds confirmed with dystrophinopathy. Whole-genome sequencing is required to identify the causative mutation.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/40531087/