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Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture

Authors
 Younggun Lee  ;  Jung Hwan Lee  ;  Hyung Jun Park  ;  Young-Chul Choi 
Citation
 JOURNAL OF CLINICAL NEUROLOGY, Vol.13(4) : 405-410, 2017 
Journal Title
JOURNAL OF CLINICAL NEUROLOGY
ISSN
 1738-6586 
Issue Date
2017
Keywords
emery-dreifuss muscular dystrophy ; lamin A/C ; limb-girdle muscular dystrophy type 1B
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 nonspecific 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 undiagnosed muscular dystrophy or laminopathy.
Files in This Item:
T201704131.pdf Download
DOI
10.3988/jcn.2017.13.4.405
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Jung Hwan(이정환)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161129
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