Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Jul 18;8(1):10898.
doi: 10.1038/s41598-018-29170-7.

Quantitative Muscle MRI to Follow Up Late Onset Pompe Patients: A Prospective Study

Collaborators, Affiliations
Free PMC article

Quantitative Muscle MRI to Follow Up Late Onset Pompe Patients: A Prospective Study

Sebastian Figueroa-Bonaparte et al. Sci Rep. .
Free PMC article


Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the progression of muscle symptoms. Reliable biomarkers are needed to follow up ERT-treated and asymptomatic LOPD patients in clinical practice. In this study, 32 LOPD patients (22 symptomatic and 10 asymptomatic) underwent muscle MRI using 3-point Dixon and were evaluated at the time of the MRI with several motor function tests and patient-reported outcome measures, and again after one year. Muscle MRI showed a significant increase of 1.7% in the fat content of the thigh muscles in symptomatic LOPD patients. In contrast, there were no noteworthy differences between muscle function tests in the same period of time. We did not observe any significant changes either in muscle MRI or in muscle function tests in asymptomatic patients over the year. We conclude that 3-point Dixon muscle MRI is a useful tool for detecting changes in muscle structure in symptomatic LOPD patients and could become part of the current follow-up protocol in daily clinics.

Conflict of interest statement

The study was supported by Sanofi-Genzyme. The company did not interfere in the design of the protocol or review any data obtained from patients. There are no other conflicts of interest.


Figure 1
Figure 1
Analysis of fat fraction in thigh and trunk muscles in LOPD patients at baseline. (A,B) Show an example of how ROIs are drawn to obtain total muscle area and fat fraction in 3-point Dixon images. (C) shows the fat fraction calculated for thigh and trunk muscles in symptomatic (red) and asymptomatic (blue) patients. The box plot includes the 25th–75th percentile, the mid lines indicate the median, bars are the 5th–95th percentiles. *P < 0.05, **P < 0.01 and ***P < 0.001. RF: Rectus Femoris, VL: Vastus Lateralis, Gr: Gracilis, VM: Vastus Medialis, Sa: Sartorius, BFSH: Biceps Femoris Short Head, VI: Vastus Intermedius, ST: Semitendinosus, AL: Adductor Longus, BFLH: Biceps Femoris Long Head, Pso: Psoas, SM: Semimembranosus, Ps: Paraspinalis, and AM: Adductor Major.
Figure 2
Figure 2
Yearly progression in thigh muscle fat replacement in symptomatic LOPD patients. The box plot includes the 25th–75th percentile, the mid lines indicate the median, bars are the 5th–95th percentiles. Each dot represents one symptomatic LOPD patient. Mann-Whitney U Test, ***P < 0.001.
Figure 3
Figure 3
Yearly progression of fat replacement in individual muscles of symptomatic patients. (A) Each dot represents fat fraction calculated in a single muscle. Vertical lines divide muscles based on baseline fat fractions: low (green dots, 0–30%), intermediate (red dots, 30–60%) and severe (orange dots, 60–90%). (B) Increase in muscle fat replacement related to baseline fat fraction. The box plot includes the 25th–75th percentile, the mid lines indicate the median, bars correspond to the 5th–95th percentiles. Black dots are outliers. Kruskal-Wallis test, *P < 0.05, **P < 0.01.

Similar articles

See all similar articles

Cited by 7 articles

  • POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
    Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C. Servián-Morilla E, et al. Acta Neuropathol. 2020 Mar;139(3):565-582. doi: 10.1007/s00401-019-02117-6. Epub 2020 Jan 3. Acta Neuropathol. 2020. PMID: 31897643
  • Pompe disease: what are we missing?
    Schoser B. Schoser B. Ann Transl Med. 2019 Jul;7(13):292. doi: 10.21037/atm.2019.05.29. Ann Transl Med. 2019. PMID: 31392204 Free PMC article. Review.
  • Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.
    Byrne BJ, Fuller DD, Smith BK, Clement N, Coleman K, Cleaver B, Vaught L, Falk DJ, McCall A, Corti M. Byrne BJ, et al. Ann Transl Med. 2019 Jul;7(13):290. doi: 10.21037/atm.2019.05.56. Ann Transl Med. 2019. PMID: 31392202 Free PMC article. Review.
  • Identification of serum microRNAs as potential biomarkers in Pompe disease.
    Carrasco-Rozas A, Fernández-Simón E, Lleixà MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nuñez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group, Díaz-Manera J, Gallardo E. Carrasco-Rozas A, et al. Ann Clin Transl Neurol. 2019 Jul;6(7):1214-1224. doi: 10.1002/acn3.50800. Epub 2019 Jun 12. Ann Clin Transl Neurol. 2019. PMID: 31353854 Free PMC article. Clinical Trial.
  • A genetic modifier of symptom onset in Pompe disease.
    Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP. Bergsma AJ, et al. EBioMedicine. 2019 May;43:553-561. doi: 10.1016/j.ebiom.2019.03.048. Epub 2019 Mar 25. EBioMedicine. 2019. PMID: 30922962 Free PMC article.
See all "Cited by" articles


    1. Bembi B, et al. Diagnosis of glycogenosis type II. Neurology. 2008;71:S4–11. doi: 10.1212/WNL.0b013e31818da91e. - DOI - PubMed
    1. Schuller A, Wenninger S, Strigl-Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C:80–88. doi: 10.1002/ajmg.c.31322. - DOI - PubMed
    1. van der Ploeg AT, et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010;362:1396–1406. doi: 10.1056/NEJMoa0909859. - DOI - PubMed
    1. van der Ploeg AT, et al. Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab. 2012;107:456–461. doi: 10.1016/j.ymgme.2012.09.015. - DOI - PubMed
    1. Gungor D, et al. Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis. 2013;8:49. doi: 10.1186/1750-1172-8-49. - DOI - PMC - PubMed

Publication types