Esteemed speakers Dr Hacer Durmus and Dr Sevim Erdem Özdamar shared their experience & expertise on the diagnosis and management of late-onset Pompe disease.

Summary of key highlights from the webinar :

  • Some red flags to look out for Pompe disease: paraspinal and abdominal muscle weaknesses, early respiratory involvement, skapula alata and rigid spine.
  • Perform a basal measurement of lung function in patients who may have hereditary muscle disorders, which includes Pompe disease.
  • Screening of Pompe disease is important via a dried blood spot (DBS) test which is easy and convenient to use.
  • Early diagnosis and initiation of Enzyme Replacement Therapy (ERT) can reduce the progression of muscle damage, loss of motor ability and respiratory dysfunction.
  • ERT are well tolerated, has positive safety profiles, increases or stabilizes motor function and stabilizes respiratory function in most LOPD patients.

MAT-MY-2200666 07/2022
MAT-MY-2200410 05/2022