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BVES-related limb girdle muscular dystrophy

Last edited: 4/15/2026

Overview

Limb girdle muscular dystrophy (LGMD) associated with mutations in the BAG3 gene (BVES-related LGMD) is characterized by progressive muscle weakness and atrophy primarily affecting the pelvic and shoulder girdles. 1

Diagnosis

  • Clinical Presentation: Progressive muscle weakness and atrophy in the pelvic and shoulder girdles.
  • Electrocardiogram (ECG) Monitoring: Essential to detect cardiac arrhythmias, which can be an early presenting feature. 1
  • Cardiac Evaluation: Echocardiography and cardiac MRI to assess myocardial involvement and potential cardiomyopathy.
  • Genetic Testing: Identification of BAG3 mutations confirms the diagnosis.
  • Muscle Biopsy: Histological examination to assess muscle fiber morphology and confirm dystrophic changes.

    • Management

  • Cardiac Monitoring: Regular ECGs and echocardiograms to manage arrhythmias and cardiomyopathy. 1
  • Pacing Devices: Permanent pacemakers for patients with atrial paralysis.
  • Symptomatic Treatment: Physical therapy and assistive devices to maintain mobility and function.
  • Multidisciplinary Care: Collaboration with cardiologists, neurologists, and physical therapists.

    • Special Populations

  • Cardiac Complications: Increased vigilance for cardiac arrhythmias in pediatric and elderly patients due to potential early onset and rapid progression. 1

    • Key Recommendations

  • Consider underlying muscular dystrophy, particularly BVES-related LGMD, in patients presenting with unexplained cardiac arrhythmias. (Evidence: Moderate) 1
  • Implement regular cardiac monitoring, including ECGs and echocardiograms, in patients diagnosed with BVES-related LGMD. (Evidence: Expert opinion) 1
  • Evaluate and manage potential atrial paralysis with permanent pacing as indicated. (Evidence: Weak) 1

    • References

    1 Ng W, Lau CP. Cardiac arrhythmias as presenting symptoms in patients with limb-girdle muscular dystrophy. International journal of cardiology 1997. link02911-7)

    Original source

    1. [1]
      Cardiac arrhythmias as presenting symptoms in patients with limb-girdle muscular dystrophy. — Ng W, Lau CP International journal of cardiology (1997)
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