Importance of early diagnosis in LMNA‐related muscular dystrophy for cardiac surveillance. Issue 6 (30th September 2019)

• Record Type: Journal Article
• Authors: Choi, Sun Ah; Cho, Anna; Kim, Soo Yeon; Kim, Woo Joong; Shim, Young Kyu; Lee, Jin Sook; Jang, Se Song; Lim, Byung Chan; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Kim, Ki Joong; Kim, Man Jin; Seong, Moon‐Woo; Chae, Jong‐Hee
• Is Part Of: Muscle & nerve. Volume 60:Issue 6(2019)
• Page Start: 668
• Page End: 672
• Publication Date: 2019-09-30
• Subjects: cardiac involvement -- childhood‐onset muscular dystrophy -- dysrhythmia -- lamin A/C -- pediatric; Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.26700
• Languages: English
• ISSNs: 0148-639X

Abstract

Abstract: 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.