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KMID : 1130620170130040405
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Journal of Clinical Neurology
2017 Volume.13 No. 4 p.405 ~ p.410
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Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
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Lee Young-Gun
Lee Jung-Hwan
Park Hyung-Jun
Choi Young-Chul
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Abstract
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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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KEYWORD
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lamin A/C, limb-girdle muscular dystrophy type 1B, emery-dreifuss muscular dystrophy
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