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

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 dys...

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Autores principales: Lee, Younggun, Lee, Jung Hwan, Park, Hyung Jun, Choi, Young-Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653629/
https://www.ncbi.nlm.nih.gov/pubmed/29057633
http://dx.doi.org/10.3988/jcn.2017.13.4.405
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author Lee, Younggun
Lee, Jung Hwan
Park, Hyung Jun
Choi, Young-Chul
author_facet Lee, Younggun
Lee, Jung Hwan
Park, Hyung Jun
Choi, Young-Chul
author_sort Lee, Younggun
collection PubMed
description 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.
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spelling pubmed-56536292017-10-24 Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture Lee, Younggun Lee, Jung Hwan Park, Hyung Jun Choi, Young-Chul J Clin Neurol Original Article 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. Korean Neurological Association 2017-10 2017-09-27 /pmc/articles/PMC5653629/ /pubmed/29057633 http://dx.doi.org/10.3988/jcn.2017.13.4.405 Text en Copyright © 2017 Korean Neurological Association http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Lee, Younggun
Lee, Jung Hwan
Park, Hyung Jun
Choi, Young-Chul
Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
title Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
title_full Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
title_fullStr Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
title_full_unstemmed Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
title_short Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
title_sort early-onset lmna-associated muscular dystrophy with later involvement of contracture
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653629/
https://www.ncbi.nlm.nih.gov/pubmed/29057633
http://dx.doi.org/10.3988/jcn.2017.13.4.405
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