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SHR Neuro Krebs Kardio Lipid

Löscher, WN; Huemer, M; Stulnig, TM; Simschitz, P; Iglseder, S; Eggers, C; Moser, H; Möslinger, D; Freilinger, M; Lagler, F; Grinzinger, S; Reichhardt, M; Bittner, RE; Schmidt, WM; Lex, U; Brunner-Krainz, M; Quasthoff, S; Wanschitz, JV.
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
J Neurol. 2018; 265(1):159-164 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Autor/innen der Med Uni Graz:
Brunner-Krainz Michaela
Quasthoff Stefan

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Plum Analytics:
Number of Figures: 1
In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. We found 25 patients in 24 families, 4 IOPD and 21 LOPD with a resulting prevalence of 1:350,914. The most frequent clinical manifestation in LOPD was a lower limb-girdle phenotype combined with axial weakness. Three patients were clinically pauci- or asymptomatic and were diagnosed because of persistent hyperCKemia. Diagnostic delay in LOPD was 7.4 ± 9.7 years. The most common mutation was c.-32-13T > 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 (using NLM MeSH Indexing)
Adolescent -
Adult -
Age of Onset -
Aged -
Austria - epidemiology
Child -
Delayed Diagnosis -
Enzyme Replacement Therapy - methods
Female -
Follow-Up Studies -
Glycogen Storage Disease Type II - epidemiology
Glycogen Storage Disease Type II - genetics
Glycogen Storage Disease Type II - physiopathology
Glycogen Storage Disease Type II - therapy
Humans -
Male -
Middle Aged -
Mutation - genetics
Retrospective Studies -
Vital Capacity - physiology
alpha-Glucosidases - genetics

Find related publications in this database (Keywords)
Pompe disease
Clinical phenotype
Enzyme replacement therapy
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