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3. Pompe disease in Austria: clinical, genetic and epidemiological aspects

Author

Löscher, W N, Huemer, Martina, Stulnig, T M, Simschitz, P, Iglseder, S, Eggers, C, Moser, H, Möslinger, D, Freilinger, M, Lagler, F, Grinzinger, S, Reichhardt, M, Bittner, R E, Schmidt, W M, Lex, U, Brunner-Krainz, M, Quasthoff, S, Wanschitz, J V, Löscher, W N, Huemer, Martina, Stulnig, T M, Simschitz, P, Iglseder, S, Eggers, C, Moser, H, Möslinger, D, Freilinger, M, Lagler, F, Grinzinger, S, Reichhardt, M, Bittner, R E, Schmidt, W M, Lex, U, Brunner-Krainz, M, Quasthoff, S, and Wanschitz, J V

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.

Published
2018

4. Pompe disease in Austria: clinical, genetic and epidemiological aspects.

Author

Löscher, W. N., Huemer, M., Stulnig, T. M., Simschitz, P., Iglseder, S., Eggers, C., Moser, H., Möslinger, D., Freilinger, M., Lagler, F., Grinzinger, S., Reichhardt, M., Bittner, R. E., Schmidt, W. M., Lex, U., Brunner-Krainz, M., Quasthoff, S., and Wanschitz, J. V.

Subjects
GLYCOGEN storage disease type II, GLYCOGEN storage disease, DISEASE prevalence, SYMPTOMS, EPIDEMIOLOGY, DIAGNOSIS, THERAPEUTICS
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. [ABSTRACT FROM AUTHOR]

Published
2018
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6. Pompe disease in Austria: clinical, genetic and epidemiological aspects

Author

Christian Eggers, Florian B. Lagler, Stefan Quasthoff, Wolfgang Löscher, Stephan Iglseder, Philipp Simschitz, S. Grinzinger, Reginald E. Bittner, Wolfgang M. Schmidt, U. Lex, Michael Freilinger, Dorothea Möslinger, H. Moser, Michaela Brunner-Krainz, Thomas M. Stulnig, M. Reichhardt, Julia Wanschitz, M. Huemer, University of Zurich, and Wanschitz, J V

Subjects
0301 basic medicine, Adult, Male, medicine.medical_specialty, Pediatrics, Vital capacity, Neurology, Delayed Diagnosis, Adolescent, Epidemiology, Vital Capacity, 610 Medicine & health, Disease, Asymptomatic, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Clinical phenotype, medicine, Genetics, Humans, Age of Onset, Child, Alglucosidase alfa, Aged, Retrospective Studies, Original Communication, business.industry, Glycogen Storage Disease Type II, Pompe disease, alpha-Glucosidases, Enzyme replacement therapy, Middle Aged, 2728 Neurology (clinical), 030104 developmental biology, 10036 Medical Clinic, 2808 Neurology, Austria, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug, Follow-Up Studies
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.

Published
2017

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