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Late onset Pompe Disease in India - Beyond the Caucasian phenotype.

Publication ,  Journal Article
Puri, RD; Setia, N; N, V; Jagadeesh, S; Nampoothiri, S; Gupta, N; Muranjan, M; Bhat, M; Girisha, KM; Kabra, M; Verma, J; Thomas, DC; Biji, I ...
Published in: Neuromuscul Disord
May 2021

We evaluated the clinical histories, motor and pulmonary functions, cardiac phenotypes and GAA genotypes of an Indian cohort of twenty patients with late onset Pompe disease (LOPD) in this multi-centre study. A mean age at onset of symptoms and diagnosis of 9.9 ± 9.7 years and 15.8 ± 12.1 years respectively was identified. All patients had lower extremity limb-girdle muscle weakness. Seven required ventilatory support and seven used mobility assists. Of the four who used both assists, two received ventilatory support prior to wheelchair use. Cardiac involvement was seen in eight patients with various combinations of left ventricular hypertrophy, tricuspid regurgitation, cardiomyopathy, dilated ventricles with biventricular dysfunction and aortic regurgitation. Amongst 20 biochemically diagnosed patients (low residual GAA enzyme activity) GAA genotypes of 19 patients identified homozygous variants in eight and compound heterozygous in 11: 27 missense, 3 nonsense, 2 initiator codon, 3 splice site and one deletion. Nine variants in 7 patients were novel. The leaky Caucasian, splice site LOPD variant, c.-32-13T>G mutation was absent. This first study from India provides an insight into a more severe LOPD phenotype with earlier disease onset at 9.9 years compared to 33.3 years in Caucasian patients, and cardiac involvement more than previously reported. The need for improvement in awareness and diagnosis of LOPD in India is highlighted.

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Published In

Neuromuscul Disord

DOI

EISSN

1873-2364

Publication Date

May 2021

Volume

31

Issue

5

Start / End Page

431 / 441

Location

England

Related Subject Headings

  • Young Adult
  • Retrospective Studies
  • RNA Splice Sites
  • Phenotype
  • Neurology & Neurosurgery
  • Mutation
  • Male
  • India
  • Humans
  • Homozygote
 

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Puri, R. D., Setia, N., N, V., Jagadeesh, S., Nampoothiri, S., Gupta, N., … Kishnani, P. S. (2021). Late onset Pompe Disease in India - Beyond the Caucasian phenotype. Neuromuscul Disord, 31(5), 431–441. https://doi.org/10.1016/j.nmd.2021.02.013
Puri, Ratna Dua, Nitika Setia, Vinu N, Sujatha Jagadeesh, Sheela Nampoothiri, Neerja Gupta, Mamta Muranjan, et al. “Late onset Pompe Disease in India - Beyond the Caucasian phenotype.Neuromuscul Disord 31, no. 5 (May 2021): 431–41. https://doi.org/10.1016/j.nmd.2021.02.013.
Puri RD, Setia N, N V, Jagadeesh S, Nampoothiri S, Gupta N, et al. Late onset Pompe Disease in India - Beyond the Caucasian phenotype. Neuromuscul Disord. 2021 May;31(5):431–41.
Puri, Ratna Dua, et al. “Late onset Pompe Disease in India - Beyond the Caucasian phenotype.Neuromuscul Disord, vol. 31, no. 5, May 2021, pp. 431–41. Pubmed, doi:10.1016/j.nmd.2021.02.013.
Puri RD, Setia N, N V, Jagadeesh S, Nampoothiri S, Gupta N, Muranjan M, Bhat M, Girisha KM, Kabra M, Verma J, Thomas DC, Biji I, Raja J, Makkar R, Verma IC, Kishnani PS. Late onset Pompe Disease in India - Beyond the Caucasian phenotype. Neuromuscul Disord. 2021 May;31(5):431–441.
Journal cover image

Published In

Neuromuscul Disord

DOI

EISSN

1873-2364

Publication Date

May 2021

Volume

31

Issue

5

Start / End Page

431 / 441

Location

England

Related Subject Headings

  • Young Adult
  • Retrospective Studies
  • RNA Splice Sites
  • Phenotype
  • Neurology & Neurosurgery
  • Mutation
  • Male
  • India
  • Humans
  • Homozygote