Limb‐girdle muscular dystrophy in a miniature dachshund in the UK

Summary A 14‐month‐old female miniature dachshund presented with a 3‐month history of progressive dysphagia, regurgitation, inappetence and weight loss. Physical examination revealed poor body condition, generalised muscle atrophy with a stiff gait, macroglossia and a prominent caudal mandibular region. Serum biochemistry showed markedly increased muscle enzymes, including creatine kinase activity at 15,925 U/L (reference: <150). Computed tomography revealed a severe hiatal hernia, diffuse diaphragmatic thickening, macroglossia, lateral displacement of mandibular cheek teeth and atrophy of the appendicular and masticatory muscles. Electromyography showed complex repetitive discharges in the hamstring and gastrocnemius muscles. Muscle biopsy samples confirmed a dystrophic phenotype, and immunostaining did not detect sarcoglycan proteins. Surgical correction of the hiatal hernia was performed, and supportive care, including steroids, was provided while awaiting genetic test results for the Sarcoglycan A gene variant causing limb‐girdle muscular dystrophy 2D in the miniature dachshund breed. The dog was confirmed homozygous for the limb‐girdle muscular dystrophy 2D variant and euthanased 11 days after due to lack of improvement and poor prognosis.