title: Screening for late-onset Pompe disease in Finland.
abstract: 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.
authors.affiliation: Neuromuscular Research Center, Tampere University Hospital and University of Tampere, Tampere, Finland. Electronic address: johanna.palmio@uta.fi.
authors.forename: Johanna
authors.initials: J
authors.lastname: Palmio
authors.affiliation: Department of Neurology, Unit for Neuromuscular Diseases, Helsinki University Central Hospital, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, 00029 Helsinki, Finland.
authors.forename: Mari
authors.initials: M
authors.lastname: Auranen
authors.affiliation: Department of Neurology, Unit for Neuromuscular Diseases, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Sari
authors.initials: S
authors.lastname: Kiuru-Enari
authors.affiliation: Department of Neurology, Unit for Neuromuscular Diseases, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Mervi
authors.initials: M
authors.lastname: Löfberg
authors.affiliation: Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, USA.
authors.forename: Olaf
authors.initials: O
authors.lastname: Bodamer
authors.affiliation: Neuromuscular Research Center, Tampere University Hospital and University of Tampere, Tampere, Finland; Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Neurology Department, Vaasa Central Hospital, Vaasa, Finland.
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005387:Finland / Q000453:epidemiology; D006009:Glycogen Storage Disease Type II / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology*; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D009431:Neural Conduction / Q000235:genetics; D015898:Tomography Scanners, X-Ray Computed; D055815:Young Adult; D000520:alpha-Glucosidases / Q000097:blood
chemical_list: D000520:alpha-Glucosidases
keywords: Glycogen storage disease type II; Late-onset; Pompe disease; Screening