A novel DMD gene missense variant (c.2207T>C) caused X-linked muscular dystrophy in a cat, whose clinical course remained stable over 1.5 years with supportive management.
Case Report (n=1)
This case expands the known spectrum of feline DMD variants and highlights the value of genetic testing combined with muscle histopathology for diagnosing chronic presentations of muscular dystrophy.
X-linked dystrophin-deficient muscular dystrophy (DD-MD) is an uncommon neuromuscular disorder in cats. We described an adult male cat with chronic tongue protrusion, dysphagia, muscle hypertrophy, and a history of rhabdomyolysis associated with anesthesia. Clinical pathology revealed markedly increased CK activity, muscle histopathology demonstrated a dystrophic phenotype, and an absence of dystrophin protein was confirmed by immunofluorescent staining. Whole genome sequencing identified two potential disease-causing variants, including a new missense variant in the DMD gene (c.2207T>C; p.Gln736Arg), which was considered causative of the clinical phenotype. A second variant in the CLIC2 gene was also detected but was considered unlikely to cause myopathic signs. The clinical course remained stable over 1.5 years with supportive management and dietary modification, and no further episodes of rhabdomyolysis occurred. This case expands the known spectrum of feline DMD variants and highlights the value of genetic testing combined with muscle histopathology for diagnosing chronic presentations of MD. Avoidance of inhalant anesthetics may be important in managing affected cats due to the risk of acute muscle injury.
Cridge et al. (Tue,) conducted a case report in X-linked dystrophin-deficient muscular dystrophy (n=1). Supportive management and dietary modification was evaluated on Clinical course and episodes of rhabdomyolysis. A novel DMD gene missense variant (c.2207T>C) caused X-linked muscular dystrophy in a cat, whose clinical course remained stable over 1.5 years with supportive management.