Cardioembolic stroke related to limb-girdle muscular dystrophy 1B

BMC Research Notes

Jiann-Shing Jeng¹  Chih-Chao Yang¹  Yi-Ning Su²  Sung-Chun Tang¹  Chih-Hao Chen¹ 

[1] Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, Taiwan;Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan

关键词: Cardiac arrhythmia;    Thrombolytic therapy;    Cardioembolic stroke;    Emery-Dreifuss muscular dystrophy;    Limb-girdle muscular dystrophy;    Neuromuscular disorder;   

Others  :  1144923
DOI  :  10.1186/1756-0500-6-32

 received in 2012-09-28, accepted in 2012-12-18,  发布年份 2013

【 摘 要 】

Background

Cardioembolic stroke is an under-recognized complication in patients with limb-girdle muscular dystrophy 1B. Here we present a young stroke patient who had a novel lamin A/C gene (LMNA) mutation.

Case presentation

This is a 39-year-old man who had slowly progressive proximal muscle weakness and cardiac arrhythmia since adolescent and a family history of similar manifestation. He sustained acute ischemic stroke in the left middle cerebral artery territory. Intravenous recombinant tissue plasminogen activator therapy was given with significant neurological improvement. Additionally, genetic sequencing of the LMNA gene of the patient identified a mutation in c.513+1 G>A that resulted in a splicing aberration.

Conclusion

We suggested that LMNA gene related myopathies should be considered in young stroke patients with long-standing myopathic features.

【 授权许可】

   
2013 Chen et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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