' '
Deutsch | English    

Forschungsdatenbank PMU-SQQUID

Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Loscher, WN; Huemer, M; Stulnig, TM; Simschitz, P; Iglseder, S; Eggers, C; Moser, H; Moslinger, D; Freilinger, M; Lagler, F; Grinzinger, S; Reichhardt, M; Bittner, RE; Schmidt, WM; Lex, U; Brunner-Krainz, M; Quasthoff, S; Wanschitz, JV
J NEUROL. 2018; 265(1): 159-164.
Originalarbeiten (Zeitschrift)


Grinzinger Susanne
Lagler Florian


 G. All IOPD and 17 symptomatic LOPD patients are receiving ERT. Standardized follow-up was only available in six LOPD patients for the 6-min walk test (6minWT) and in ten for the 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 was a trend to decline in the mean distance covered by the 6minWT (before ERT: 373.5 ± 117.9 m; last evaluation during ERT: 308.5 ± 120.8 m; P = 0.077). The study shows a lower prevalence of Pompe disease in Austria than in other European countries and corroborates a limb-girdle phenotype with axial weakness as the most common clinical presentation, although asymptomatic hyperCKemia may be the first indication of LOPD.

Find related publications in this database (Keywords)

Pompe disease
Clinical phenotype
Enzyme replacement therapy