Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.
10.3988/jcn.2017.13.4.405
- Author:
Younggun LEE
1
;
Jung Hwan LEE
;
Hyung Jun PARK
;
Young Chul CHOI
Author Information
1. Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac
- Publication Type:Original Article
- Keywords:
lamin A/C;
limb-girdle muscular dystrophy type 1B;
emery-dreifuss muscular dystrophy
- MeSH:
Biopsy;
Contracture*;
Delayed Diagnosis;
Diagnosis;
Early Diagnosis;
Exome;
Genetic Testing;
Humans;
Hypertrophy;
Muscular Dystrophies*;
Muscular Dystrophies, Limb-Girdle;
Muscular Dystrophy, Emery-Dreifuss
- From:Journal of Clinical Neurology
2017;13(4):405-410
- CountryRepublic of Korea
- Language:English
-
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.
