Introduction: The identification of LMNA-related muscular dystrophy is important because it poses life-threatening cardiac complications. However, diagnosis of LMNA-related muscular dystrophy based on clinical features is challenging.
Methods: We reviewed the clinical phenotypes of 14 children with LMNA variants, focusing on the cardiac function and genotypes.
Results: Most patients presented with motor developmental delay or gait abnormalities. Eight (57%) patients had prominent neck extensor weakness or contractures. All patients showed ankle contractures at an early stage. Regular cardiac surveillance allowed for the detection of dysrhythmias in 57% of patients at a mean age of 14 years (range, 5-26). All patients had missense variants; however, there were no clear phenotype-genotype correlations.
Discussion: Early diagnosis of LMNA-related muscular dystrophy provides an opportunity for cardiac surveillance, potentially leading to the prevention of cardiac mortality in children.
Keywords: cardiac involvement; childhood-onset muscular dystrophy; dysrhythmia; lamin A/C; pediatric.
© 2019 Wiley Periodicals, Inc.