Email updates

Keep up to date with the latest news and content from BMC Research Notes and BioMed Central.

Open Access Case Report

Cardioembolic stroke related to limb-girdle muscular dystrophy 1B

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

Author Affiliations

1 Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, Taiwan

2 Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan

For all author emails, please log on.

BMC Research Notes 2013, 6:32  doi:10.1186/1756-0500-6-32

Published: 29 January 2013

Abstract

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.

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