View : 78 Download: 0

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

Title
Early-onset LMNA-associated muscular dystrophy with later involvement of contracture
Authors
Lee Y.Lee J.H.Park H.J.Choi Y.-C.
Ewha Authors
박형준
SCOPUS Author ID
박형준scopusscopus
Issue Date
2017
Journal Title
Journal of Clinical Neurology (Korea)
ISSN
1738-6586JCR Link
Citation
vol. 13, no. 4, pp. 405 - 410
Keywords
Emery-dreifuss muscular dystrophyLamin A/CLimb-girdle muscular dystrophy type 1B
Publisher
Korean Neurological Association
Indexed
SCIE; SCOPUS; KCI WOS 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. © 2017 Korean Neurological Association.
DOI
10.3988/jcn.2017.13.4.405
Appears in Collections:
의료원 > 의료원 > Journal papers
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE