Pompe disease in Austria: clinical, genetic and epidemiological aspects

• DOI: 10.1007/s00415-017-8686-6
• Publication Date: 2017-11-27T06:46:00Z
• Authors: W. N. Löscher; M. Huemer; T. M. Stulnig; P. Simschitz; S. Iglseder; C. Eggers; H. Moser; D. Möslinger; M. Freilinger; F. Lagler; S. Grinzinger; M. Reichhardt; R. E. Bittner; W. M. Schmidt; U. Lex; M. Brunner-Krainz; S. Quasthoff; J. V. Wanschitz
• Keywords: Neuroradiology; Clinical phenotype

In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD LOPD) in Austria. Paediatric neuromuscular centres were contacted to provide set anonymized clinical genetic data patients with IOPD LOPD. The number receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. We found 25 24 families, 4 21 LOPD resulting prevalence 1:350,914. most frequent manifestation lower limb-girdle phenotype combined axial weakness. Three clinically pauci- or asymptomatic diagnosed because persistent hyperCKemia. Diagnostic delay 7.4 ± 9.7 years. common mutation c.-32-13T > G. All 17 symptomatic are ERT. Standardized follow-up only available six for 6-min walk test (6minWT) ten forced vital capacity (FVC). Mean FVC did not decline (before ERT; 63.6 39.7%; last evaluation during ERT: 61.9 26.9%; P = 0.5) while there trend mean distance covered by 6minWT 373.5 117.9 m; 308.5 120.8 0.077). study shows Austria than other European countries corroborates weakness as presentation, although hyperCKemia may be first indication