Peer-reviewed veterinary case report
Toy Poodle puppy with muscle weakness from Duchenne gene mutation
By Sakai, Kosei et al.·Published in The Journal of veterinary medical science·2022·Graduate School of Life and Environmental Sciences, Japan·View original on PubMed →
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Original publication title: Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the Duchenne muscular dystrophy gene.
- Species:
- dog
Plain-English summary
A 10-month-old male Toy Poodle was brought to the vet because he had trouble standing and moving properly. Blood tests showed very high levels of a muscle enzyme, indicating muscle damage, and a muscle biopsy confirmed that his muscle fibers were degenerating. Further testing revealed that he had a genetic condition called dystrophin-deficient muscular dystrophy, which is caused by a mutation in a specific gene. This case is significant as it's the first reported instance of this condition in Toy Poodles. Unfortunately, there is no cure for muscular dystrophy, but supportive care can help manage symptoms.
People also search for: Toy Poodle muscle problems · puppy postural abnormality · muscular dystrophy in dogs treatment
Abstract
A 10-month-old, intact male Toy Poodle was referred for a postural abnormality. Blood biochemical tests revealed a marked increase in plasma creatine phosphokinase (CPK) concentration. The isoenzyme test showed that 99% of serum CPK consisted of CPK-MM. Histopathological evaluation of muscle biopsy samples confirmed scattered degeneration and necrosis of myofibers. Immunohistochemistry for dystrophin showed an absence of staining in muscle cells. Based on these findings, the dog was diagnosed with dystrophin-deficient muscular dystrophy. Whole genome sequencing using genomic DNA extracted from blood revealed a single base pair insertion in exon 45 of the Duchenne muscular dystrophy (DMD) gene. This is the first report on muscular dystrophy in Toy Poodles and identified a novel mutation in the DMD gene.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/35135937/