Cardioembolic stroke related to limb-girdle muscular dystrophy 1B
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
BMC Research Notes 2013, 6:32 doi:10.1186/1756-0500-6-32Published: 29 January 2013
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.
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.
We suggested that LMNA gene related myopathies should be considered in young stroke patients with long-standing myopathic features.