Peer-reviewed veterinary case report
Muscle weakness from alpha-dystroglycan deficiency in Sphynx
By Martin, Paul T et al.·Published in Neuromuscular disorders : NMD·2008·The Research Institute at Nationwide Children's Hospital, United States·View original on PubMed →
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Original publication title: Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.
- Species:
- cat
Plain-English summary
A 3-year-old Sphynx cat was found to have muscle weakness and difficulty moving, which gradually worsened over time. Tests showed that the cat had a condition called muscular dystrophy linked to a deficiency of a protein called alpha-dystroglycan, which is important for muscle function. Unlike other forms of this condition, the cat's muscles were not affected by nerve issues, and the problem stemmed from a lack of protein expression rather than a change in how the protein was made. Unfortunately, there is no specific treatment for this condition, but understanding it can help owners manage their cat's symptoms better.
People also search for: Sphynx cat muscle weakness · cat muscular dystrophy symptoms · treatment for cat muscle problems
Abstract
Recent studies have identified a number of forms of muscular dystrophy, termed dystroglycanopathies, which are associated with loss of natively glycosylated alpha-dystroglycan. Here we identify a new animal model for this class of disorders in Sphynx and Devon Rex cats. Affected cats displayed a slowly progressive myopathy with clinical and histologic hallmarks of muscular dystrophy including skeletal muscle weakness with no involvement of peripheral nerves or CNS. Skeletal muscles had myopathic features and reduced expression of alpha-dystroglycan, while beta-dystroglycan, sarcoglycans, and dystrophin were expressed at normal levels. In the Sphynx cat, analysis of laminin and lectin binding capacity demonstrated no loss in overall glycosylation or ligand binding for the alpha-dystroglycan protein, only a loss of protein expression. A reduction in laminin-alpha2 expression in the basal lamina surrounding skeletal myofibers was also observed. Sequence analysis of translated regions of the feline dystroglycan gene (DAG1) in affected cats did not identify a causative mutation, and levels of DAG1 mRNA determined by real-time QRT-PCR did not differ significantly from normal controls. Reduction in the levels of glycosylated alpha-dystroglycan by immunoblot was also identified in an affected Devon Rex cat. These data suggest that muscular dystrophy in Sphynx and Devon Rex cats results from a deficiency in alpha-dystroglycan protein expression, and as such may represent a new type of dystroglycanopathy where expression, but not glycosylation, is affected.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/18990577/