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.