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 language | English |
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Pages (from-to) | 405-410 |
Number of pages | 6 |
Journal | Journal of Clinical Neurology (Korea) |
Volume | 13 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2017 Oct |
Bibliographical note
Funding Information:AV: atrioventricular, CK: creatine kinase, ECG: electrocardiography, EDMD: Emery-Dreifuss muscular dystrophy, EMG: electromyography, L/Ex: lower extremities, LGMD1B: limb-girdle muscular dystrophy type 1B, MRC: Medical Research Council, RBBB: right bundle branch block, U/Ex: upper extremities.
Publisher Copyright:
© 2017 Korean Neurological Association.
All Science Journal Classification (ASJC) codes
- Neurology
- Clinical Neurology