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The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.

Publication ,  Journal Article
Roberts, M; Kishnani, PS; van der Ploeg, AT; Müller-Felber, W; Merlini, L; Prasad, S; Case, LE
Published in: Mol Genet Metab
December 2011

Pompe disease is a rare, autosomal recessive, progressively debilitating, and often fatal neuromuscular disorder. While scoliosis is common in many other neuromuscular disorders, there is little information on its prevalence and impact in Pompe disease. To further our understanding, we performed a cross-sectional analysis of data from the Pompe Registry, a multinational, long-term observational program that contains the largest collection of data in the world of patients with Pompe disease. In this analysis, patients were categorized by age during the natural history period (defined as the time when patients never received enzyme replacement therapy) and by age at onset of symptoms as infants (≤0 to <2 years of age); children (≥2 to <13 years of age); juveniles (≥13 to <20 years of age); and adults (≥20 years of age). Scoliosis was defined by clinical assessment, X-ray of the spine, or both. Data on scoliosis were available in the majority of patients enrolled in the registry as of September 2010 (711/873, 81.4%). Scoliosis was present in a third of all patients with scoliosis data (235/711, 33%) in the Pompe Disease Registry. Scoliosis was found more frequently in patients with onset of Pompe symptoms as children (57.0%) and juveniles (52.9%) than in patients with onset of symptoms as adults (24.8%). Only 18.4% (38/206) of patients with onset of symptoms as infants were reported as having scoliosis. Scoliosis was reported in the majority (62.5%) of wheelchair users for all age groups. A larger percentage of patients with scoliosis required respiratory support than patients without scoliosis (44% vs 27.2%, respectively), and pulmonary function in those with scoliosis was consistently reduced in the 3 older age groups compared to those without scoliosis, with the largest differences demonstrated in juveniles. Patients with scoliosis had been diagnosed with Pompe disease for a mean of 1.2 (±14.34) years before the first reporting of scoliosis. As with other registry analyses, data were collected from multiple sites in different countries and assessments of scoliosis therefore may not be based on consistent criteria. However, the observed occurrence of scoliosis across all age groups of patients with Pompe disease and its association with increased clinical morbidity, underscores the need for clinical assessment of scoliosis in all patients with Pompe disease.

Duke Scholars

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

December 2011

Volume

104

Issue

4

Start / End Page

574 / 582

Location

United States

Related Subject Headings

  • Young Adult
  • Scoliosis
  • Respiratory Function Tests
  • Registries
  • Prevalence
  • Mobility Limitation
  • Middle Aged
  • Male
  • Infant
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
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Roberts, M., Kishnani, P. S., van der Ploeg, A. T., Müller-Felber, W., Merlini, L., Prasad, S., & Case, L. E. (2011). The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab, 104(4), 574–582. https://doi.org/10.1016/j.ymgme.2011.08.011
Roberts, Mark, Priya S. Kishnani, Ans T. van der Ploeg, Wolfgang Müller-Felber, Luciano Merlini, Suyash Prasad, and Laura E. Case. “The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.Mol Genet Metab 104, no. 4 (December 2011): 574–82. https://doi.org/10.1016/j.ymgme.2011.08.011.
Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, et al. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab. 2011 Dec;104(4):574–82.
Roberts, Mark, et al. “The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.Mol Genet Metab, vol. 104, no. 4, Dec. 2011, pp. 574–82. Pubmed, doi:10.1016/j.ymgme.2011.08.011.
Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, Case LE. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab. 2011 Dec;104(4):574–582.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

December 2011

Volume

104

Issue

4

Start / End Page

574 / 582

Location

United States

Related Subject Headings

  • Young Adult
  • Scoliosis
  • Respiratory Function Tests
  • Registries
  • Prevalence
  • Mobility Limitation
  • Middle Aged
  • Male
  • Infant
  • Humans