Peer-reviewed veterinary case report
Mild muscle swelling and breathing trouble in a cat with genetic
By Muto, Harunobu et al.·Published in Journal of veterinary internal medicine·2024·Otakibashi Animal Hospital, Japan·View original on PubMed →
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Original publication title: Association of a novel dystrophin (DMD) genetic nonsense variant in a cat with X-linked muscular dystrophy with a mild clinical course.
- Species:
- cat
Plain-English summary
A 9-year-old male domestic shorthair cat was brought to the vet due to ongoing muscle swelling and breathing difficulties that had started when he was 3 years old. Tests showed high levels of certain enzymes in his blood, and examinations revealed muscle swelling in his neck and limbs, along with a slow gait. Further tests indicated muscle damage and regeneration, leading to the discovery of a unique genetic variant linked to X-linked muscular dystrophy (FXMD). Despite his condition, the cat exhibited mild symptoms and has managed to live a long life.
People also search for: cat muscle swelling · cat breathing problems · X-linked muscular dystrophy in cats · cat genetic disorders · treatment for cat muscle disease
Abstract
X-linked muscular dystrophy in cats (FXMD) is an uncommon disease, with few reports describing its pathogenic genetic variants. A 9-year-old castrated male domestic shorthair cat was presented with persistent muscle swelling and breathing difficulty from 3 years of age. Serum activity of alanine aminotransferase, aspartate transaminase, and creatine kinase were abnormally high. Physical and neurological examinations showed muscle swelling in the neck and proximal limb, slow gait, and occasional breathing difficulties. Electromyography showed pseudomyotonic discharges and complex repetitive discharges with a "dive-bomber" sound. Histopathology revealed muscle necrosis and regeneration. Whole-genome sequencing identified a novel and unique hemizygous nonsense genetic variant, c.8333G > A in dystrophin (DMD), potentially causing a premature termination codon (p.Trp2778Ter). Based on a combination of clinical and histological findings and the presence of the DMD nonsense genetic variant, this case was considered FXMD, which showed mild clinical signs and long-term survival, even though immunohistochemical characterization was lacking.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/38415938/