Peer-reviewed veterinary case report
Muscle disease from missing dystrophin in Shiba Inu dogs
By Mcleay, Laura et al.·Published in Genes·2025·Small Animal Specialist Hospital, Australia·View original on PubMed →
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Original publication title: Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion EncompassingExon 5.
- Species:
- dog
Plain-English summary
Two Shiba Inu littermates were brought in for high levels of a muscle enzyme called creatine kinase, which can indicate muscle damage. Muscle biopsies showed signs of muscle disease, and tests confirmed that both dogs were missing a protein called dystrophin, which is crucial for muscle health. Genetic testing revealed a deletion in their DNA linked to this condition, which is inherited in a specific way. Sadly, one of the dogs died from heart failure, while the other showed no signs of muscle issues at the time of the report. This case highlights a new genetic link to muscle disease in Shiba Inu dogs.
People also search for: Shiba Inu muscle disease · dog high creatine kinase levels · dystrophin deficiency in dogs
Abstract
BACKGROUND: Two Shiba Inu littermates presented for investigation of marked and persistent elevation of creatine kinase activities. METHOD AND RESULTS: Histopathology of muscle biopsy samples revealed a dystrophic phenotype and immunostaining confirmed an absence of dystrophin protein in both cases. Whole genome sequencing of one affected dog revealed a complex deletion in thegene encompassing exon 5. Screening of 27 related dogs confirmed an X-linked inheritance. The variant was identified in three related male dogs. One littermate died from cardiac arrest and the other littermate had no clinical myopathic signs at the time of the manuscript's preparation. An additional related male dog reportedly died suddenly during grooming. CONCLUSION: This study adds a new breed to the canine dystrophinopathy spectrum having a ~17 kb deletion that encompasses exon 5 ofThis same exon 5 deletion has been identified in human dystrophin-deficient muscular dystrophy patients.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/41300820/