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Importance of early diagnosis in LMNA ‐related muscular dystrophy for cardiac surveillance
Author(s) -
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 MoonWoo,
Chae JongHee
Publication year - 2019
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26700
Subject(s) - lmna , medicine , muscular dystrophy , muscle contracture , congenital muscular dystrophy , pediatrics , cardiology , physical therapy , surgery , lamin , psychiatry , nucleus
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.