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Holzwarth J, Minopoli N, Pfrimmer C, et al. Clinical and Genetic Aspects of Juvenile Onset Pompe Disease. Neuropediatrics. 2021;doi: 10.1055/s-0041-1735250.
Holzwarth, J., Minopoli, N., Pfrimmer, C., Smitka, M., Borrel, S., Kirschner, J., Muschol, N., Hartmann, H., Hennermann, J. B., Neubauer, B. A., Hobbiebrunken, E., Husain, R., & Hahn, A. (2021). Clinical and Genetic Aspects of Juvenile Onset Pompe Disease. Neuropediatrics, . https://doi.org/10.1055/s-0041-1735250
Holzwarth, Johanna, et al. "Clinical and Genetic Aspects of Juvenile Onset Pompe Disease." Neuropediatrics vol. (2021). doi: https://doi.org/10.1055/s-0041-1735250
Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann JB, Neubauer BA, Hobbiebrunken E, Husain R, Hahn A. Clinical and Genetic Aspects of Juvenile Onset Pompe Disease. Neuropediatrics. 2021 Dec 01; doi: 10.1055/s-0041-1735250. Epub 2021 Dec 01. PMID: 34852371.
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Neuropediatrics. 2021 Dec 01; doi: 10.1055/s-0041-1735250. Epub 2021 Dec 01.

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.

Neuropediatrics

Johanna Holzwarth, Nadja Minopoli, Charlotte Pfrimmer, Martin Smitka, Sabine Borrel, Janbernd Kirschner, Nicole Muschol, Hans Hartmann, Julia B Hennermann, Bernd A Neubauer, Elke Hobbiebrunken, Ralf Husain, Andreas Hahn

Affiliations

  1. Department of Child Neurology, Justus-Liebig University Gießen, Germany.
  2. Children's hospital, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  3. Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Freiburg, Germany.
  4. Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  5. Hannover Medical School, Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover, Germany.
  6. Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.
  7. Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany.
  8. Centre for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany.

PMID: 34852371 DOI: 10.1055/s-0041-1735250

Abstract

Little is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1-17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family history in three (9%), hyperCKemia in eight (23.5%), motor developmental delay in three (9%), and muscle weakness and/or pain in 17 (50%). Rare clinical signs were failure to thrive, recurrent diarrhea, and suspected hepatopathy with glycogen storage. Thirty-two different mutations were identified. Twenty-seven patients (79.5%) carried the milder c.32-13T > G mutation, known to be associated with a broad range of phenotypes. Three out of eight patients manifesting within the first year of life showed generalized muscle weakness, hypertrophic cardiomyopathy, and had to be ventilated during the course of disease, thereby demonstrating clinical overlap with infantile onset Pompe disease.These findings demonstrate that the phenotype of JOPD is broad and that the differential is not only restricted to neuromuscular disorders. Genotypic analysis was useful to delineate subjects with early onset JOPD from those with IOPD, but overall genotype-phenotype correlation was poor.

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Conflict of interest statement

None declared.

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