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Journal articles on the topic 'Late-onset Pome disease'

Author: Grafiati

Published: 30 June 2021

Last updated: 29 July 2025

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1

Safina, D. R., L. R. Alimbekova, and A. T. Faskhutdinov. "Late-onset Pompe disease." Clinical pharmacology and therapy 35, no. 3 (2024): 63–66. http://dx.doi.org/10.32756/0869-5490-2024-3-63-66.

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Pompe disease is a rare neuromuscular disorder associated with acid maltase deficiency. The severity of clinical manifestations and age of onset correlate with the type of mutation in the GAA gene and residual activity of lysosomal α-1,4-glucosidase. The infantile form of Pompe disease is characterized by hypertrophic cardiomyopathy, generalized muscle weakness, hypotonia, hepatomegaly and death from respiratory failure within the first year of life. Late-onset Pompe disease may develop at any age and affects skeletal muscle, causing slowly progressive muscle weakness and respiratory impairmen

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2

Mattosova, S., A. Hlavata, P. Spalek, L. Kotysova, D. Macekova, and J. Chandoga. "Late onset form of Pompe disease." Bratislava Medical Journal 116, no. 08 (2015): 502–5. http://dx.doi.org/10.4149/bll_2015_097.

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3

Schneider, Joseph, Lynn A. Burmeister, Kyle Rudser, Chester B. Whitley, and Jeanine Jarnes Utz. "Hypothyroidism in late-onset Pompe disease." Molecular Genetics and Metabolism Reports 8 (September 2016): 24–27. http://dx.doi.org/10.1016/j.ymgmr.2016.06.002.

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4

Roberts, Mark. "Late-Onset Pompe Disease: A Multisystemic Disorder." Journal of Neuromuscular Diseases 2, s1 (2015): S1. http://dx.doi.org/10.3233/jnd-159001.

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5

Mišurová, Radka, and Věra Malinová. "The late-onset form of Pompe disease." Neurologie pro praxi 22, no. 4 (2021): 325–30. http://dx.doi.org/10.36290/neu.2021.053.

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6

Goker-Alpan, Ozlem, Vellore G. Kasturi, Maninder K. Sohi, et al. "Pregnancy Outcomes in Late Onset Pompe Disease." Life 10, no. 9 (2020): 194. http://dx.doi.org/10.3390/life10090194.

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There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function secondary to the involvement of the respiratory muscles. In a cohort of twenty-five females, the effects of both PD on the course of pregnancy and the effects of pregnancy on PD were investigated. Reproductive history, course of pregnancy, use of Enzyme replacement therapy (ERT), PD symptoms, and outcomes of each pregnancy were obtained through a ques

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7

Frezza, E., C. Terracciano, M. Giacanelli, E. Rastelli, G. Greco, and R. Massa. "Late-Onset Pompe Disease with Nemaline Bodies." Case Reports in Neurological Medicine 2018 (September 27, 2018): 1–5. http://dx.doi.org/10.1155/2018/4127213.

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Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system. Clinical presentation is highly variable, with infantile and late-onset (LOPED) forms. Although muscle biopsy findings are rather stereotyped, atypical features have been described. A 52-year-old man without a family history of muscle disorders presented with slowly progressing upper and lower limb girdle weakness and hyperCKemia. At needle EMG, a diffuse neurogenic pattern was detected. Mus

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8

Jones, Harrison, Kelly Crisp, Milisa Batten, et al. "Lingual pathophysiology in late-onset Pompe disease." Molecular Genetics and Metabolism 123, no. 2 (2018): S72. http://dx.doi.org/10.1016/j.ymgme.2017.12.178.

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9

Xirou, S., C. Papadopoulos, V. Nikolakopoulou, et al. "ERT efficacy in late onset Pompe disease." Neuromuscular Disorders 26 (October 2016): S110. http://dx.doi.org/10.1016/j.nmd.2016.06.090.

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10

Lamartine S.Monteiro, M., and G. Remiche. "Late-onset Pompe disease associated with polyneuropathy." Neuromuscular Disorders 29, no. 12 (2019): 968–72. http://dx.doi.org/10.1016/j.nmd.2019.08.016.

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11

Yang, C. F., D. M. Niu, M. J. Jeng, Y. S. Lee, P. C. Taso, and W. J. Soong. "Late-Onset Pompe Disease With Left-Sided Bronchomalacia." Respiratory Care 60, no. 2 (2014): e26-e29. http://dx.doi.org/10.4187/respcare.03419.

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12

Berresford, S. "Alglucosidase-?? of benefit in late-onset Pompe disease." Inpharma Weekly &NA;, no. 1635 (2008): 13. http://dx.doi.org/10.2165/00128413-200816350-00023.

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13

Jastrzębska, Aleksandra, Anna Potulska‐Chromik, Anna Łusakowska, et al. "Screening for late‐onset Pompe disease in Poland." Acta Neurologica Scandinavica 140, no. 4 (2019): 239–43. http://dx.doi.org/10.1111/ane.13133.

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14

McIntosh, Paul, Laura Case, Stephanie Austin, and Priya Kishnani. "Characterization of gait in late onset Pompe disease." Molecular Genetics and Metabolism 114, no. 2 (2015): S78. http://dx.doi.org/10.1016/j.ymgme.2014.12.171.

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15

McIntosh, Paul T., Laura E. Case, Justin M. Chan, Stephanie L. Austin, and Priya Kishnani. "Characterization of gait in late onset Pompe disease." Molecular Genetics and Metabolism 116, no. 3 (2015): 152–56. http://dx.doi.org/10.1016/j.ymgme.2015.09.001.

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16

Hamed, Alaa, Andrew Stewart, Milki Tilimo, Robert Krupnick, LeAnne Maddux, and Margaret Meyer. "PRO instrument development for late-onset Pompe disease." Molecular Genetics and Metabolism 120, no. 1-2 (2017): S61—S62. http://dx.doi.org/10.1016/j.ymgme.2016.11.140.

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17

Jones, Harrison N., Kaylea Nicholson, and Kelly D. Crisp. "Respiratory muscle training in late-onset Pompe disease." Molecular Genetics and Metabolism 120, no. 1-2 (2017): S72. http://dx.doi.org/10.1016/j.ymgme.2016.11.169.

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18

Finsterer, Josef. "Late-onset Pompe disease manifests in the brain." Molecular Genetics and Metabolism Reports 20 (September 2019): 100488. http://dx.doi.org/10.1016/j.ymgmr.2019.100488.

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19

Palmio, Johanna, Mari Auranen, Sari Kiuru-Enari, Mervi Löfberg, Olaf Bodamer, and Bjarne Udd. "Screening for late-onset Pompe disease in Finland." Neuromuscular Disorders 24, no. 11 (2014): 982–85. http://dx.doi.org/10.1016/j.nmd.2014.06.438.

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20

Panosyan, Francis B., Michael F. Fitzpatrick, and Charles F. Bolton. "Late Onset Pompe Disease Mimicking Rigid Spine Syndrome." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 41, no. 2 (2014): 286–89. http://dx.doi.org/10.1017/s0317167100016760.

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21

Laforêt, Pascal, Valérie Doppler, Catherine Caillaud, et al. "Rigid spine syndrome revealing late-onset Pompe disease." Neuromuscular Disorders 20, no. 2 (2010): 128–30. http://dx.doi.org/10.1016/j.nmd.2009.11.006.

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22

Papadimas, G. K., G. Terzis, S. Methenitis, et al. "Body composition analysis in late-onset Pompe disease." Molecular Genetics and Metabolism 102, no. 1 (2011): 41–43. http://dx.doi.org/10.1016/j.ymgme.2010.09.002.

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23

Musumeci, Olimpia, and Antonio Toscano. "Diagnostic tools in late onset Pompe disease (LOPD)." Annals of Translational Medicine 7, no. 13 (2019): 286. http://dx.doi.org/10.21037/atm.2019.06.60.

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24

Fayssoil, Abdallah, Olivier Nardi, Djillali Annane, and David Orlikowski. "Right ventricular function in late-onset Pompe disease." Journal of Clinical Monitoring and Computing 28, no. 4 (2014): 419–21. http://dx.doi.org/10.1007/s10877-014-9551-0.

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25

Cupler, Edward J., Kenneth I. Berger, Robert T. Leshner, et al. "Consensus treatment recommendations for late-onset Pompe disease." Muscle & Nerve 45, no. 3 (2011): 319–33. http://dx.doi.org/10.1002/mus.22329.

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26

Labella, Beatrice, Stefano Cotti Piccinelli, Barbara Risi, et al. "A Comprehensive Update on Late-Onset Pompe Disease." Biomolecules 13, no. 9 (2023): 1279. http://dx.doi.org/10.3390/biom13091279.

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Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical presentations are usually considered, named infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD), which differ in age of onset, organ involvement, and severity of disease. Assessment of acid alpha-glucosidase activity on a dried blood spot is the first-line screening test, which needs to be confirmed by genetic analysis in case of suspected deficiency. LOPD is a multi-system disease, thus requiring a multidisc

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27

Papadimas, George, Gerassimos Terzis, Constantinos Papadopoulos, et al. "Bone density in patients with late onset Pompe disease." International Journal of Endocrinology and Metabolism 10, no. 4 (2012): 599–603. http://dx.doi.org/10.5812/ijem.4967.

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28

Musumeci, Olimpia, Carmen Terranova, Alessia Pugliese, Vincenzo Rizzo, Paolo Girlanda, and Antonio Toscano. "Electromyographic findings in patients with late-onset pompe disease." Journal of the Neurological Sciences 429 (October 2021): 119360. http://dx.doi.org/10.1016/j.jns.2021.119360.

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29

Hansen, J. S., E. G. Pedersen, D. Gaist, et al. "Screening for late-onset Pompe disease in western Denmark." Acta Neurologica Scandinavica 137, no. 1 (2017): 85–90. http://dx.doi.org/10.1111/ane.12811.

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30

Hernandez, Zachary, Kelly Wickstrom, and Tammer El-Aini. "Medical image of the month: late-onset Pompe disease." Southwest Journal of Pulmonary and Critical Care 20, no. 4 (2020): 124–25. http://dx.doi.org/10.13175/swjpcc022-20.

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31

Croce, M., F. Naz, L. Barzaghi, et al. "673P Magnetization transfer imaging in late-onset Pompe disease." Neuromuscular Disorders 43 (October 2024): 104441.731. http://dx.doi.org/10.1016/j.nmd.2024.07.740.

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32

Ruiz, Agustin Gutierrez, Joaquina Prieto Prieto, Amaia Laita Legarreta, and Maria Carmen Percaz Bados. "No. 15 Pompe Disease Late-Onset: A Case Report." PM&R 6, no. 8 (2014): S100. http://dx.doi.org/10.1016/j.pmrj.2014.08.293.

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33

Papadopoulos, C., G. K. Papadimas, H. Michelakakis, E. Kararizou, and P. Manta. "Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease." Molecular Genetics and Metabolism Reports 1 (2014): 2–4. http://dx.doi.org/10.1016/j.ymgmr.2013.10.002.

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34

Schneider, Ilka, Ole Hensel, and Stephan Zierz. "Response: Late-onset Pompe disease manifests in the brain." Molecular Genetics and Metabolism Reports 21 (December 2019): 100516. http://dx.doi.org/10.1016/j.ymgmr.2019.100516.

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35

Kostera-Pruszczyk, A., A. Potulska-Chromik, A. Lusakowska, et al. "Screening for late onset Pompe disease – Single center experience." Neuromuscular Disorders 26 (October 2016): S107. http://dx.doi.org/10.1016/j.nmd.2016.06.081.

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36

Monteiro, Sergio G., and Eduardo L. De Vito. "Blunted respiratory drive response in late onset Pompe disease." Neuromuscular Disorders 27, no. 2 (2017): 201–2. http://dx.doi.org/10.1016/j.nmd.2016.12.015.

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37

Kurashige, T., N. Shiroma, A. Motoda, et al. "P.17.2 Late onset Pompe disease with dilated cardiomyopathy." Neuromuscular Disorders 23, no. 9-10 (2013): 826–27. http://dx.doi.org/10.1016/j.nmd.2013.06.652.

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38

Gupta, Punita, Edward C. Nunziato, and Swati Sathe. "Prevalence of late onset Pompe disease in unclassified LGMD." Molecular Genetics and Metabolism 108, no. 2 (2013): S45. http://dx.doi.org/10.1016/j.ymgme.2012.11.102.

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39

Hagemans, M. L. C., S. P. M. Schie, A. C. J. W. Janssens, P. A. Doorn, A. J. J. Reuser, and A. T. Ploeg. "Fatigue: an important feature of late-onset Pompe disease." Journal of Neurology 254, no. 7 (2007): 941–45. http://dx.doi.org/10.1007/s00415-006-0434-2.

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40

Dobbins, Julia, Tim Pyragius, Kristian Brion, et al. "112 Blood spot testing for late onset pompe disease." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 6 (2018): A44.2—A44. http://dx.doi.org/10.1136/jnnp-2018-anzan.111.

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IntroductionPompe disease is classified by age of onset and presentation. Late-onset Pompe disease (LOPD) generally presents with progressive limb-girdle and respiratory muscle weakness. Diagnosis is confirmed following dried blood spot (DBS) enzyme assay by a second method, either mutation or glucose tetra-saccharide analysis.MethodsFrom 2000 to 2016, acid α –glucosidase (GAA) activity in DBS was measured using the immuno-capture assay of . Umapathysivam et al. (2001) From 2016 testing used the multiplex tandem mass spectrometry method (6-PLEX LC-MSMS, Perkin Elmer), measuring six lysosomal s

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41

Matsui, Misa, Kimiko Inoue, Saburo Sakoda, et al. "Screening for late-onset Pompe disease in undiagnosed myopathies." Neurology and Clinical Neuroscience 5, no. 2 (2016): 60–64. http://dx.doi.org/10.1111/ncn3.12108.

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42

Faraguna, Martha Caterina, Viola Crescitelli, Anna Fornari, et al. "Treatment Dilemma in Children with Late-Onset Pompe Disease." Genes 14, no. 2 (2023): 362. http://dx.doi.org/10.3390/genes14020362.

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In recent years, there has been a significant increase in the diagnosis of asymptomatic Late-Onset Pompe Disease (LOPD) patients, who are detected via family screening or Newborn Screening (NBS). The dilemma is when to start Enzyme Replacement Therapy (ERT) in patients without any clinical sign of the disease, considering its important benefits in terms of loss of muscle but also its very high cost, risk of side effects, and long-term immunogenicity. Muscle Magnetic Resonance Imaging (MRI) is accessible, radiation-free, and reproducible; therefore, it is an important instrument for the diagnos

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43

Angelini, Corrado, Marco Savarese, Marina Fanin, and Vincenzo Nigro. "Next generation sequencing detection of late onset pompe disease." Muscle & Nerve 53, no. 6 (2016): 981–83. http://dx.doi.org/10.1002/mus.25042.

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44

Schüller, Angela, Stephan Wenninger, Nicola Strigl-Pill, and Benedikt Schoser. "Toward deconstructing the phenotype of late-onset Pompe disease." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 160C, no. 1 (2012): 80–88. http://dx.doi.org/10.1002/ajmg.c.31322.

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45

Hobson-Webb, Lisa D., and Priya S. Kishnani. "How common is misdiagnosis in late-onset pompe disease?" Muscle & Nerve 45, no. 2 (2012): 301–2. http://dx.doi.org/10.1002/mus.22296.

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46

Leontieva, I. V., Yu S. Isaeva, I. M. Miklashevich, and S. A. Thermosesov. "Cardiovascular system damage in the late-onset Pompe disease." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 68, no. 3 (2023): 83–91. http://dx.doi.org/10.21508/1027-4065-2023-68-3-83-91.

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The article presents a clinical case of metabolic hypertrophic cardiomyopathy against the background of a late-onset form of Pompe disease, illustrating the difficulties of differential diagnostic search for the cause of the disease. The clinical, laboratory and genetic aspects of the diagnosis of Pompe disease are highlighted. The features of laboratory diagnostics, the difficult path to the correct diagnosis and the appointment of enzyme replacement therapy are discussed. Much attention is paid to the clinical symptoms of the disease — the most significant damage to the cardiovascular system

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47

Borelli, Elena, Maria Luisa Casciana, Claudia Salemi, Silvia Sordelli, and Silvia Fasoli. "IperCKemia asintomatica: la malattia di Pompe late-onset." Medico e Bambino pagine elettroniche 24, no. 4 (2021): 105–8. http://dx.doi.org/10.53126/mebxxiv105.

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The paper reports the case of a 7-year-old boy who presented with elevated alanine and aspartate transaminases. Further investigations demonstrated elevated creatine kinase (CK), so an underlying metabolic disorder was investigated even in absence of clinical manifestations. Dried blood spot (DBS) screening test for acid α-glucosidase (AAG) enzyme activity was below normal levels and molecular genetic testing for AAG gene demonstrated pathogenic mutations. The diagnosis of late-onset Pompe disease (LOPD) was finally confirmed. Thanks to the early diagnosis, the child would be under close surve

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48

Salinas-Suikouski, Robert, Fabricio González-Andrade, and Gabriela Aguinaga-Romero. "Enfermedad de Pompe de inicio tardío desencadenada por el embarazo, reporte de una variante clínica genómica descrita por primera vez en un adulto." Revista Ecuatoriana de Neurologia 29, no. 2 (2020): 113–18. http://dx.doi.org/10.46997/revecuatneurol29200113.

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Antecedentes: esta es la primera vez en el mundo que la variante NM_000152 (GAA_V001): c.1555A˃G; p. (Met519Val), se describe en una mujer adulta, desencadenada por el embarazo. Es una mutación sin sentido por sustitución, homocigótica, probablemente patógena. Reporte del caso: se trata de una mujer adulta mestiza, nacida y residente en Ecuador, que durante su período de lactancia, después de un embarazo y un parto por cesárea, debutó con un trastorno musculoesquelético. Se hospitalizó a la paciente en el Hospital Eugenio Espejo en Quito, Ecuador; donde ella ha sido readmitida por varias veces

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49

Smertina, L. P., F. I. Ausheva, A. V. Gryaznov, D. A. Svetlakov, and L. N. Kolbasin. "Late-onset Pompe disease: preliminary results of enzyme replacement therapy." Neuromuscular Diseases 9, no. 2 (2019): 43–49. http://dx.doi.org/10.17650/2222-8721-2019-9-2-43-49.

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Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the activity of the enzyme alglucosidase alpha or acid maltase. The variety of phenotypic forms and varying degrees of damage to the skeletal and respiratory muscles, cardiomyocytes and internal organs greatly complicates the diagnosis and treatment of patients with Pompe»s disease. This article describ

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50

Jaskuła, Karolina, Konrad Merkisz, Sylwia Nemeczek, et al. "Late-onset Pompe disease - literature review and summary of current knowledge." Quality in Sport 9, no. 1 (2023): 11–18. http://dx.doi.org/10.12775/qs.2023.09.01.001.

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Introduction: Pompe disease is a glycogen storage disorder caused by the deficient activity of the lysosomal enzyme acid α-glucosidase (GAA). Mutations in the GAA gene lead to the accumulation of glycogen in different organs. In a late-onset form (late-onset Pompe disease), the disease is characterized by slow, progressive proximal limb and respiratory muscle weakness. The diagnosis is based on a low level of GAA either in the muscle biopsy or in the leucocytes. LOPD is treated with enzyme replacement therapy (ERT). Purpose: Summary of currently knowladge about Late-onset Pompe disease - chara

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