Screening for late-onset Pompe disease in Poland

Objectives We aimed to screen for late-onset Pompe disease using the dried blood spot (DBS) test in a cohort of patients with limb-girdle muscle weakness or persistent hyperCKemia. Materials and methods Patients with limb-girdle muscle weakness, persistently elevated CK, rigid spine syndrome, dyspnoea, myalgia or sibling of the patient diagnosed with LOPD were included in the study. Acid alpha-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry and followed by genetic testing when required. Study was conducted between June 2014 and May 2017. Results A total of 337 patients aged 32.2 years (range 2-80) were included in the study. Late-onset Pompe disease was diagnosed in 10 patients (3.0% of tested cohort). All were compound heterozygotes with common c.32-13T>G mutation on one allele and missense or frameshift mutation on the other. Two of the mutations (c.1951delG and c.397T>G) were not reported previously. Seven of the patients started enzyme replacement therapy. Conclusions DBS test is a reliable method for screening for late-onset Pompe disease.