Screening for late-onset Pompe disease in Finland

Johanna Palmio, Mari Auranen, Sari Kiuru-Enari, Mervi Löfberg, Olaf Bodamer, Bjarne Udd

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Pompe disease (glycogen storage disease type II) is caused by autosomal recessive mutations in GAA gene. The estimated frequency of late-onset Pompe disease is around 1:60,000. However, only two infantile and one late-onset Pompe patients have been reported in Finland with a population of 5 million. We screened for late-onset Pompe disease in a cohort of undetermined myopathy patients with proximal muscle weakness and/or elevated serum creatine kinase values. Acid α-glucosidase (GAA) activity in dried blood spots was measured and clinical data collected in 108 patients. Four patients had low normal GAA activity; all the others had activities well within the normal range. Re-analyses of these patients did not reveal new Pompe patients. Our findings suggest that Pompe disease is extremely rare in Finland. Finland is an example of an isolated population with enrichment of certain mutations for genetic disorders and low occurrence of some autosomal recessive diseases.

Original languageEnglish (US)
Pages (from-to)982-985
Number of pages4
JournalNeuromuscular Disorders
Issue number11
StatePublished - 2014


  • Glycogen storage disease type II
  • Late-onset
  • Pompe disease
  • Screening

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology


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