How is LGMD2B/Miyoshi diagnosed?
Diagnosis is generally made based on the following information: • A detailed patient and family history (a 3 generation pedigree) • The source of the muscle weakness (nerve or muscle) • A detailed examination looking for specific symptoms of LGMD2B or Miyoshi, as described above • Muscle biopsy • Blood testing • Genetic testing (sequencing the dysferlin gene to identify disease causing mutations) »top
