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Pompe disease in Austria: clinical, genetic and epidemiological aspects.
J Neurol 2018; 265(1):159-164JN

Abstract

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.

Authors+Show Affiliations

Department of Neurology, Medical University Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.Christian Doppler-Laboratory for Cardio-Metabolic Immunotherapy and Clinical Division of Endocrinology and Metabolism, Internal Medicine III, Medical University of Vienna, Vienna, Austria.Department of Neurology, Klinikum Klagenfurt Am Wörthersee, Klagenfurt, Austria.Department of Neurology, Barmherzige Brüder, Linz, Austria.Department of Neurology, Barmherzige Brüder, Linz, Austria.Neurological Therapy Center Gmundnerberg, Altmünster, Austria.Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.Department for Paediatrics, Institute for Inborn Errors of Metabolism, Paracelsus Medical University, Salzburg, Austria.Department of Neurology, Paracelsus Medical University, Salzburg, Austria.Department of Paediatrics, Kaiser-Franz-Josef-Hospital, Vienna, Austria.Neuromuscular Research Department, Center of Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.Neuromuscular Research Department, Center of Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.Privatklinik Maria Hilf, Klagenfurt Am Wörthersee, Austria.Department of Pediatrics, Medical University Graz, Graz, Austria.Department of Neurology, Medical University Graz, Graz, Austria.Department of Neurology, Medical University Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria. julia.wanschitz@i-med.ac.at.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29181627

Citation

Löscher, W N., et al. "Pompe Disease in Austria: Clinical, Genetic and Epidemiological Aspects." Journal of Neurology, vol. 265, no. 1, 2018, pp. 159-164.
Löscher WN, Huemer M, Stulnig TM, et al. Pompe disease in Austria: clinical, genetic and epidemiological aspects. J Neurol. 2018;265(1):159-164.
Löscher, W. N., Huemer, M., Stulnig, T. M., Simschitz, P., Iglseder, S., Eggers, C., ... Wanschitz, J. V. (2018). Pompe disease in Austria: clinical, genetic and epidemiological aspects. Journal of Neurology, 265(1), pp. 159-164. doi:10.1007/s00415-017-8686-6.
Löscher WN, et al. Pompe Disease in Austria: Clinical, Genetic and Epidemiological Aspects. J Neurol. 2018;265(1):159-164. PubMed PMID: 29181627.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pompe disease in Austria: clinical, genetic and epidemiological aspects. AU - Löscher,W N, AU - Huemer,M, AU - Stulnig,T M, AU - Simschitz,P, AU - Iglseder,S, AU - Eggers,C, AU - Moser,H, AU - Möslinger,D, AU - Freilinger,M, AU - Lagler,F, AU - Grinzinger,S, AU - Reichhardt,M, AU - Bittner,R E, AU - Schmidt,W M, AU - Lex,U, AU - Brunner-Krainz,M, AU - Quasthoff,S, AU - Wanschitz,J V, Y1 - 2017/11/27/ PY - 2017/10/27/received PY - 2017/11/18/accepted PY - 2017/11/15/revised PY - 2017/11/29/pubmed PY - 2018/7/28/medline PY - 2017/11/29/entrez KW - Clinical phenotype KW - Enzyme replacement therapy KW - Epidemiology KW - Genetics KW - Pompe disease SP - 159 EP - 164 JF - Journal of neurology JO - J. Neurol. VL - 265 IS - 1 N2 - 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. SN - 1432-1459 UR - https://www.unboundmedicine.com/medline/citation/29181627/Pompe_disease_in_Austria:_clinical_genetic_and_epidemiological_aspects_ L2 - https://dx.doi.org/10.1007/s00415-017-8686-6 DB - PRIME DP - Unbound Medicine ER -