Lee Younggun, Lee Jung Hwan, Park Hyung Jun, Choi Young Chul
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
J Clin Neurol. 2017 Oct;13(4):405-410. doi: 10.3988/jcn.2017.13.4.405.
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.
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.
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.
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.
早发性LMNA相关肌营养不良症的早期诊断对于预防与心脏传导阻滞相关的心脏骤停至关重要。然而，由于临床表现的异质性，早发性埃默里-德赖富斯肌营养不良症（EDMD）伴后期挛缩和1B型肢带型肌营养不良症的诊断常常延迟。我们旨在确定导致诊断延迟的临床特征。
我们回顾了4例近期通过靶向外显子组测序被诊断为LMNA相关肌营养不良症的患者，他们最初被诊断为非特异性或其他类型的肌营养不良症。
发现某些临床特征，如挛缩累及延迟和小腿肥大，会导致诊断延迟。肌肉活检对这些患者的诊断并无帮助。
单基因或多基因的基因检测有助于确诊LMNA相关肌营养不良症。即使是EDMD患者也可能出现后期挛缩，因此临床医生对于未确诊的肌营养不良症或核纤层蛋白病患者应考虑早期进行基因检测。
