Peer-reviewed veterinary case report
Muscle disease from sarcoglycan mutation in miniature dachshunds
By Mickelson, James R et al.·Published in Skeletal muscle·2021·Department of Veterinary and Biomedical Sciences, United States·View original on PubMed →
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Original publication title: Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.
- Species:
- dog
Plain-English summary
A group of related miniature dachshund dogs showed symptoms like difficulty exercising, a stiff walk, trouble swallowing, and dark urine. Tests revealed that they had a muscle disease called limb-girdle muscular dystrophy due to a genetic mutation in the sarcoglycan A gene. This condition leads to muscle weakness and damage, and affected dogs were found in different parts of the world. Unfortunately, there is no cure for this genetic disorder, but understanding it can help in managing the symptoms and improving the quality of life for these dogs.
People also search for: miniature dachshund muscle disease · dog exercise intolerance causes · sarcoglycan A mutation in dogs
Abstract
BACKGROUND: A cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria, and markedly elevated serum creatine kinase activities were identified. METHODS: Muscle biopsy histopathology, immunofluorescence microscopy, and western blotting were combined to identify the specific pathologic phenotype of the myopathy, and whole genome SNP array genotype data and whole genome sequencing were combined to determine its genetic basis. RESULTS: Muscle biopsies were dystrophic. Sarcoglycanopathy, a form of limb-girdle muscular dystrophy, was suspected based on immunostaining and western blotting, where α, β, and γ-sarcoglycan were all absent or reduced. Genetic mapping and whole genome sequencing identified a premature stop codon mutation in the sarcoglycan A subunit gene (SGCA). Affected dachshunds were confirmed on several continents. CONCLUSIONS: This first SGCA mutation found in dogs adds to the literature of genetic bases of canine muscular dystrophies and their usefulness as comparative models of human disease.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/33407862/