Skip to main content
Journal cover image

Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.

Publication ,  Journal Article
Kishnani, PS; Amartino, HM; Lindberg, C; Miller, TM; Wilson, A; Keutzer, J; Pompe Registry Boards of Advisors,
Published in: Am J Med Genet A
October 2013

Diagnostic delays in Pompe disease are common. The diagnostic gap (the time from the onset of symptoms to the diagnosis of Pompe disease) and factors associated with diagnostic delays were examined among Pompe Registry patients in three onset categories: Group A, onset ≤12 months of age with cardiomyopathy; Group B, onset ≤12 months without cardiomyopathy and onset >12 months to ≤12 years; and Group C, onset >12 years. Of 1,003 patients, 647 were available for analysis. In all groups, musculoskeletal signs and symptoms were among the most frequent presenting signs and symptoms, in addition to cardiomyopathy in Group A, which was part of the group's definition. Diagnostic gaps existed in all three groups. Patients presenting with respiratory and musculoskeletal signs and symptoms concurrently had the shortest diagnostic gap, while those presenting with neither respiratory nor musculoskeletal signs and symptoms had the longest. Independent factors influencing the probability of a long diagnostic gap included presenting signs and symptoms (all three groups) and year of diagnosis and age at symptom onset (Groups B and C). Group B, which represents the infantile patients without cardiomyopathy and juvenile Pompe cases, had the longest median gap (12.6 years). Diagnostic testing methods used also were reviewed. Despite the availability of blood-based assays that can be used to quickly and accurately diagnose Pompe disease, diagnostic gaps in Pompe patients across the disease spectrum continue.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

October 2013

Volume

161A

Issue

10

Start / End Page

2431 / 2443

Location

United States

Related Subject Headings

  • Time Factors
  • Registries
  • Male
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Female
  • Delayed Diagnosis
  • Child, Preschool
  • Child
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Kishnani, P. S., Amartino, H. M., Lindberg, C., Miller, T. M., Wilson, A., Keutzer, J., & Pompe Registry Boards of Advisors, . (2013). Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A, 161A(10), 2431–2443. https://doi.org/10.1002/ajmg.a.36110
Kishnani, Priya S., Hernán M. Amartino, Christopher Lindberg, Timothy M. Miller, Amanda Wilson, Joan Keutzer, and Joan Pompe Registry Boards of Advisors. “Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.Am J Med Genet A 161A, no. 10 (October 2013): 2431–43. https://doi.org/10.1002/ajmg.a.36110.
Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J, et al. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013 Oct;161A(10):2431–43.
Kishnani, Priya S., et al. “Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.Am J Med Genet A, vol. 161A, no. 10, Oct. 2013, pp. 2431–43. Pubmed, doi:10.1002/ajmg.a.36110.
Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J, Pompe Registry Boards of Advisors. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013 Oct;161A(10):2431–2443.
Journal cover image

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

October 2013

Volume

161A

Issue

10

Start / End Page

2431 / 2443

Location

United States

Related Subject Headings

  • Time Factors
  • Registries
  • Male
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Female
  • Delayed Diagnosis
  • Child, Preschool
  • Child