Peer-reviewed veterinary case report
Dog with congenital muscular dystrophy from LAMA2 gene deletion
By Shelton, G Diane et al.·Published in Journal of veterinary internal medicine·2022·Department of Pathology, United States·View original on PubMed →
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Original publication title: Congenital muscular dystrophy in a dog with a LAMA2 gene deletion.
- Species:
- dog
Plain-English summary
A 2-year-old female dog had trouble walking normally and couldn't fully open her jaw since she was adopted as a puppy. Tests showed high levels of a muscle enzyme and revealed muscle damage, confirming she had congenital muscular dystrophy due to a genetic issue with the LAMA2 gene. Unfortunately, this condition is serious and currently has no cure, but understanding the diagnosis can help owners manage their pet's care and comfort.
People also search for: dog muscle disease symptoms · why is my dog limping · congenital muscular dystrophy in dogs · dog jaw problems · LAMA2 gene deletion in dogs
Abstract
A 2-year-old female spayed dog was presented with a chronic history of short-strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography, muscle biopsies with immunofluorescent staining, and whole genome sequencing (WGS) were performed. A dystrophic phenotype was identified histologically in muscle biopsies, deficiency of laminin α2 protein was confirmed by immunofluorescent staining, and a deletion in the LAMA2 gene was identified by analysis of the WGS data. Congenital muscular dystrophy associated with a disease variant in LAMA2 was identified.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/34854126/