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Cardioembolic stroke related to limb-girdle muscular dystrophy 1B

Chih-Hao Chen1, Sung-Chun Tang, Yi-Ning Su

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

BMC Research Notes
|January 31, 2013
PubMed

Insights

Limb-girdle muscular dystrophy 1B is linked to cardioembolic stroke. A novel lamin A/C gene mutation was identified in a young stroke patient, highlighting LMNA myopathies as a consideration.

Area of Science:

  • Neurology
  • Genetics
  • Cardiology

Background:

  • Cardioembolic stroke is an underestimated complication in limb-girdle muscular dystrophy 1B patients.
  • This case highlights a potential genetic link between LMNA mutations and stroke.

Observation:

  • A 39-year-old man presented with progressive proximal muscle weakness and cardiac arrhythmia.
  • He experienced an acute ischemic stroke in the left middle cerebral artery territory.
  • Genetic analysis revealed a novel LMNA gene mutation (c.513+1 G>A) causing a splicing aberration.

Findings:

  • The patient received intravenous recombinant tissue plasminogen activator therapy with significant neurological recovery.
  • The identified LMNA mutation suggests a role in the pathogenesis of both myopathy and stroke.

Implications:

  • LMNA gene-related myopathies should be considered in young stroke patients with a history of myopathic features.
  • This case expands the clinical spectrum of LMNA mutations and emphasizes the importance of genetic evaluation in cryptogenic stroke.
Abstract

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