Peer-reviewed veterinary case report
X-linked muscle disease causing weakness in a Maine coon cat
By Kopke, Matthew A et al.·Published in Journal of veterinary internal medicine·2022·School of Veterinary Science·View original on PubMed →
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Original publication title: X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat.
- Species:
- cat
Plain-English summary
A 7-month-old male Maine coon cat was brought in because he was having trouble walking and seemed weak. After tests, the vet found that he had a genetic condition called X-linked myotubular myopathy, which affects muscle function. Unfortunately, because his condition was worsening and had a poor outlook, the owners decided to euthanize him. This case highlights the importance of genetic testing in Maine coon cats, as breeders may want to screen for this condition to avoid passing it on to future litters.
People also search for: Maine coon cat weakness · cat genetic disorders · myotubular myopathy in cats · cat euthanasia decision
Abstract
OBJECTIVE: Describe the clinical course and diagnostic and genetic findings in a cat with X-linked myotubular myopathy. CASE SUMMARY: A 7-month-old male Maine coon was evaluated for progressively worsening gait abnormalities and generalized weakness. Neurolocalization was to the neuromuscular system. Genetic testing for spinal muscular atrophy (LIX1) was negative. Given the progressive nature and suspected poor long-term prognosis, the owners elected euthanasia. Histopathology of skeletal muscle obtained post-mortem disclosed numerous rounded atrophic or hypotrophic fibers with internal nuclei or central basophilic staining. Using oxidative reactions mediated by cytochrome C oxidase and succinic dehydrogenase, scattered myofibers were observed to have central dark staining structures and a "ring-like" appearance. Given the cat's age and clinical history, a congenital myopathy was considered most likely, with the central nuclei and "ring-like" changes consistent with either centronuclear or myotubular myopathy. Whole genome sequencing identified an underlying missense variant in myotubularin 1 (MTM1), a known candidate gene for X-linked myotubular myopathy. NEW OR UNIQUE INFORMATION PROVIDED: This case is the first report of X-linked myotubular myopathy in a cat with an MTM1 missense mutation. Maine coon cat breeders may consider screening for this variant to prevent production of affected cats and to eradicate the variant from the breeding population.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/35962713/