Abstract:

Objective To analyze the clinical features and genetic variations of pseudohypertrophic muscular dystrophy (PMD) in children. Methods From August 2016 to May 2024, 107 children with PMD diagnosed by genetic testing in the Department of Pediatrics of the First Affiliated Hospital of Xinxiang Medical University and Dongguan Eighth People's Hospital / Dongguan Children's Hospital were included. The clinical manifestations, biochemical testing and genetic variation results were analyzed. Results All 107 patients were male, and the main clinical manifestations were muscle weakness, elevated transaminase and creatine kinase. Creatine kinase, alanine aminotransferase and aspartate aminotransferase increased significantly. Through high-throughput sequencing and multiplex ligation-dependent probe amplification, it was found that most of the anti-amyotrophic globulin genes had exon deletion mutations ( n=73), and exon duplication mutations, and minor mutations were detected in 12 and 22 cases, respectively. All mutations could occur anywhere in the gene, but dominantly in the exon 44-55 region ( n=60, 70.59%). Conclusion Muscle weakness, elevated transaminase and creatine kinase are the main clinical manifestations of children with PMD. Children with significant elevation of transaminase and creatine kinase need to be tested for anti-muscle atrophy globulin gene.

Key words: pseudohypertrophic muscular dystrophy, muscle weakness, transaminases, creatine kinase