Early-onset LMNA-associated muscular dystrophy with later involvement of contracture

Younggun Lee, Jung Hwan Lee, Hyung Jun Park, Young Chul Choi

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background and Purpose The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. Methods We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with non-specific or other types of muscular dystrophy. Results Certain clinical features such as delayed contracture involvement and calf hypertrophy were found to contribute to a delayed diagnosis. Muscle biopsies were not informative for the diagnosis in these patients. Conclusions Genetic testing of single or multiple genes is useful for confirming a diagnosis of LMNA-associated muscular dystrophy. Even EDMD patients could experience the later involvement of contracture, so clinicians should consider early genetic testing for patients with undiag-nosed muscular dystrophy or laminopathy.

Original languageEnglish
Pages (from-to)405-410
Number of pages6
JournalJournal of Clinical Neurology (Korea)
Volume13
Issue number4
DOIs
Publication statusPublished - 2017 Oct

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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